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From: <koe...@us...> - 2015-04-24 21:27:29
|
Revision: 5351
http://sourceforge.net/p/obo/svn/5351
Author: koehlers
Date: 2015-04-24 21:27:22 +0000 (Fri, 24 Apr 2015)
Log Message:
-----------
didn't work to import to github
Removed Paths:
-------------
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_1/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_2/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_3/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_4/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_5/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_6/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-04-24 21:03:19
|
Revision: 5350
http://sourceforge.net/p/obo/svn/5350
Author: koehlers
Date: 2015-04-24 21:03:07 +0000 (Fri, 24 Apr 2015)
Log Message:
-----------
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-1.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-14.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-15.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-16.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-17.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-18.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-19.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-2.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-20.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-21.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-29.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-3.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-31.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-32.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-34.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-35.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-37.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-38.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-39.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-4.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-42.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-43.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-44.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-45.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-46.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-47.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-48.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-51.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-52.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-53.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-54.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-57.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-58.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-59.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-62.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-65.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-66.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-67.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-68.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-70.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-72.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-74.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-76.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-8.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-81.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-85.tab
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-92.tab
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-1.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-1.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-1.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-1.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:1 Wolf-Hirschhorn Syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:1 HPO:skoehler May 29, 2013
+DECIPHER:1 Wolf-Hirschhorn Syndrome HP:0001518 Small for gestational age IEA IEA DECIPHER:1 HPO:skoehler May 29, 2013
+DECIPHER:1 Wolf-Hirschhorn Syndrome HP:0000252 Microcephaly IEA IEA DECIPHER:1 HPO:skoehler May 29, 2013
+DECIPHER:1 Wolf-Hirschhorn Syndrome HP:0001250 Seizures IEA IEA DECIPHER:1 HPO:skoehler May 29, 2013
+DECIPHER:1 Wolf-Hirschhorn Syndrome HP:0001252 Muscular hypotonia IEA IEA DECIPHER:1 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-14.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-14.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-14.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-14.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:14 Prader-Willi syndrome (Type 1) HP:0001956 Truncal obesity IEA IEA DECIPHER:14 HPO:skoehler May 29, 2013
+DECIPHER:14 Prader-Willi syndrome (Type 1) HP:0000135 Hypogonadism IEA IEA DECIPHER:14 HPO:skoehler May 29, 2013
+DECIPHER:14 Prader-Willi syndrome (Type 1) HP:0001249 Intellectual disability IEA IEA DECIPHER:14 HPO:skoehler May 29, 2013
+DECIPHER:14 Prader-Willi syndrome (Type 1) HP:0008872 Feeding difficulties in infancy IEA IEA DECIPHER:14 HPO:skoehler May 29, 2013
+DECIPHER:14 Prader-Willi syndrome (Type 1) HP:0001252 Muscular hypotonia IEA IEA DECIPHER:14 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-15.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-15.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-15.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-15.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,7 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:15 NF1-microdeletion syndrome HP:0001067 Neurofibromas IEA IEA DECIPHER:15 HPO:skoehler May 29, 2013
+DECIPHER:15 NF1-microdeletion syndrome HP:0001627 Abnormality of the heart IEA IEA DECIPHER:15 HPO:skoehler May 29, 2013
+DECIPHER:15 NF1-microdeletion syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:15 HPO:skoehler May 29, 2013
+DECIPHER:15 NF1-microdeletion syndrome HP:0000957 Cafe-au-lait spot IEA IEA DECIPHER:15 HPO:skoehler May 29, 2013
+DECIPHER:15 NF1-microdeletion syndrome HP:0000280 Coarse facial features IEA IEA DECIPHER:15 HPO:skoehler May 29, 2013
+DECIPHER:15 NF1-microdeletion syndrome HP:0000316 Hypertelorism IEA IEA DECIPHER:15 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-16.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-16.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-16.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-16.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0001627 Abnormality of the heart IEA IEA DECIPHER:16 HPO:skoehler May 29, 2013
+DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0000750 Delayed speech and language development IEA IEA DECIPHER:16 HPO:skoehler May 29, 2013
+DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0001611 Nasal speech IEA IEA DECIPHER:16 HPO:skoehler May 29, 2013
+DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0005403 T lymphocytopenia IEA IEA DECIPHER:16 HPO:skoehler May 29, 2013
+DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0002901 Hypocalcemia IEA IEA DECIPHER:16 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-17.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-17.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-17.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-17.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:17 Sotos syndrome HP:0000098 Tall stature IEA IEA DECIPHER:17 HPO:skoehler May 29, 2013
+DECIPHER:17 Sotos syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:17 HPO:skoehler May 29, 2013
+DECIPHER:17 Sotos syndrome HP:0005616 Accelerated skeletal maturation IEA IEA DECIPHER:17 HPO:skoehler May 29, 2013
+DECIPHER:17 Sotos syndrome HP:0000256 Macrocephaly IEA IEA DECIPHER:17 HPO:skoehler May 29, 2013
+DECIPHER:17 Sotos syndrome HP:0000303 Mandibular prognathia IEA IEA DECIPHER:17 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-18.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-18.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-18.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-18.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,7 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:18 1p36 microdeletion syndrome HP:0000490 Deeply set eye IEA IEA DECIPHER:18 HPO:skoehler May 29, 2013
+DECIPHER:18 1p36 microdeletion syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:18 HPO:skoehler May 29, 2013
+DECIPHER:18 1p36 microdeletion syndrome HP:0000307 Pointed chin IEA IEA DECIPHER:18 HPO:skoehler May 29, 2013
+DECIPHER:18 1p36 microdeletion syndrome HP:0000270 Delayed cranial suture closure IEA IEA DECIPHER:18 HPO:skoehler May 29, 2013
+DECIPHER:18 1p36 microdeletion syndrome HP:0001250 Seizures IEA IEA DECIPHER:18 HPO:skoehler May 29, 2013
+DECIPHER:18 1p36 microdeletion syndrome HP:0001252 Muscular hypotonia IEA IEA DECIPHER:18 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-19.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-19.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-19.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-19.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:19 Potocki-Lupski syndrome (17p11.2 duplication syndrome) HP:0000736 Short attention span IEA IEA DECIPHER:19 HPO:skoehler May 29, 2013
+DECIPHER:19 Potocki-Lupski syndrome (17p11.2 duplication syndrome) HP:0000752 Hyperactivity IEA IEA DECIPHER:19 HPO:skoehler May 29, 2013
+DECIPHER:19 Potocki-Lupski syndrome (17p11.2 duplication syndrome) HP:0000717 Autism IEA IEA DECIPHER:19 HPO:skoehler May 29, 2013
+DECIPHER:19 Potocki-Lupski syndrome (17p11.2 duplication syndrome) HP:0004322 Short stature IEA IEA DECIPHER:19 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-2.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-2.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-2.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-2.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,4 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:2 Cri du Chat Syndrome (5p deletion) HP:0001620 High pitched voice IEA IEA DECIPHER:2 HPO:skoehler May 29, 2013
+DECIPHER:2 Cri du Chat Syndrome (5p deletion) HP:0001249 Intellectual disability IEA IEA DECIPHER:2 HPO:skoehler May 29, 2013
+DECIPHER:2 Cri du Chat Syndrome (5p deletion) HP:0000252 Microcephaly IEA IEA DECIPHER:2 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-20.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-20.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-20.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-20.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0001249 Intellectual disability IEA IEA DECIPHER:20 HPO:skoehler May 29, 2013
+DECIPHER:20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0000752 Hyperactivity IEA IEA DECIPHER:20 HPO:skoehler May 29, 2013
+DECIPHER:20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0000717 Autism IEA IEA DECIPHER:20 HPO:skoehler May 29, 2013
+DECIPHER:20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0000750 Delayed speech and language development IEA IEA DECIPHER:20 HPO:skoehler May 29, 2013
+DECIPHER:20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0001252 Muscular hypotonia IEA IEA DECIPHER:20 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-21.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-21.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-21.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-21.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:21 Miller-Dieker syndrome (MDS) HP:0001627 Abnormality of the heart IEA IEA DECIPHER:21 HPO:skoehler May 29, 2013
+DECIPHER:21 Miller-Dieker syndrome (MDS) HP:0000252 Microcephaly IEA IEA DECIPHER:21 HPO:skoehler May 29, 2013
+DECIPHER:21 Miller-Dieker syndrome (MDS) HP:0001339 Lissencephaly IEA IEA DECIPHER:21 HPO:skoehler May 29, 2013
+DECIPHER:21 Miller-Dieker syndrome (MDS) HP:0002007 Frontal bossing IEA IEA DECIPHER:21 HPO:skoehler May 29, 2013
+DECIPHER:21 Miller-Dieker syndrome (MDS) HP:0011800 Midface retrusion IEA IEA DECIPHER:21 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-29.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-29.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-29.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-29.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,9 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0010829 Impaired temperature sensation IEA IEA DECIPHER:29 HPO:skoehler May 29, 2013
+DECIPHER:29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0001761 Pes cavus IEA IEA DECIPHER:29 HPO:skoehler May 29, 2013
+DECIPHER:29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0003382 Hypertrophic nerve changes IEA IEA DECIPHER:29 HPO:skoehler May 29, 2013
+DECIPHER:29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0002495 Impaired vibratory sensation IEA IEA DECIPHER:29 HPO:skoehler May 29, 2013
+DECIPHER:29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0010831 Impaired proprioception IEA IEA DECIPHER:29 HPO:skoehler May 29, 2013
+DECIPHER:29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0007328 Impaired pain sensation IEA IEA DECIPHER:29 HPO:skoehler May 29, 2013
+DECIPHER:29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0002450 Abnormality of the motor neurons IEA IEA DECIPHER:29 HPO:skoehler May 29, 2013
+DECIPHER:29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0003431 Decreased motor nerve conduction velocity IEA IEA DECIPHER:29 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-3.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-3.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-3.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-3.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,8 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:3 Williams-Beuren Syndrome (WBS) HP:0000232 Everted lower lip vermilion IEA IEA DECIPHER:3 HPO:skoehler May 29, 2013
+DECIPHER:3 Williams-Beuren Syndrome (WBS) HP:0000736 Short attention span IEA IEA DECIPHER:3 HPO:skoehler May 29, 2013
+DECIPHER:3 Williams-Beuren Syndrome (WBS) HP:0001249 Intellectual disability IEA IEA DECIPHER:3 HPO:skoehler May 29, 2013
+DECIPHER:3 Williams-Beuren Syndrome (WBS) HP:0004322 Short stature IEA IEA DECIPHER:3 HPO:skoehler May 29, 2013
+DECIPHER:3 Williams-Beuren Syndrome (WBS) HP:0001650 Aortic valve stenosis IEA IEA DECIPHER:3 HPO:skoehler May 29, 2013
+DECIPHER:3 Williams-Beuren Syndrome (WBS) HP:0000272 Malar flattening IEA IEA DECIPHER:3 HPO:skoehler May 29, 2013
+DECIPHER:3 Williams-Beuren Syndrome (WBS) HP:0000691 Microdontia IEA IEA DECIPHER:3 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-31.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-31.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-31.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-31.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,3 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:31 Hereditary Liability to Pressure Palsies (HNPP) HP:0012078 Motor conduction block IEA IEA DECIPHER:31 HPO:skoehler May 29, 2013
+DECIPHER:31 Hereditary Liability to Pressure Palsies (HNPP) HP:0002450 Abnormality of the motor neurons IEA IEA DECIPHER:31 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-32.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-32.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-32.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-32.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,4 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:32 22q11 duplication syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:32 HPO:skoehler May 29, 2013
+DECIPHER:32 22q11 duplication syndrome HP:0001611 Nasal speech IEA IEA DECIPHER:32 HPO:skoehler May 29, 2013
+DECIPHER:32 22q11 duplication syndrome HP:0000506 Telecanthus IEA IEA DECIPHER:32 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-34.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-34.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-34.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-34.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:34 Potocki-Shaffer syndrome HP:0002697 Parietal foramina IEA IEA DECIPHER:34 HPO:skoehler May 29, 2013
+DECIPHER:34 Potocki-Shaffer syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:34 HPO:skoehler May 29, 2013
+DECIPHER:34 Potocki-Shaffer syndrome HP:0002762 Multiple exostoses IEA IEA DECIPHER:34 HPO:skoehler May 29, 2013
+DECIPHER:34 Potocki-Shaffer syndrome HP:0010461 Abnormality of the male genitalia IEA IEA DECIPHER:34 HPO:skoehler May 29, 2013
+DECIPHER:34 Potocki-Shaffer syndrome HP:0000270 Delayed cranial suture closure IEA IEA DECIPHER:34 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-35.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-35.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-35.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-35.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:35 WAGR 11p13 deletion syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:35 HPO:skoehler May 29, 2013
+DECIPHER:35 WAGR 11p13 deletion syndrome HP:0000526 Aniridia IEA IEA DECIPHER:35 HPO:skoehler May 29, 2013
+DECIPHER:35 WAGR 11p13 deletion syndrome HP:0010461 Abnormality of the male genitalia IEA IEA DECIPHER:35 HPO:skoehler May 29, 2013
+DECIPHER:35 WAGR 11p13 deletion syndrome HP:0009726 Renal neoplasm IEA IEA DECIPHER:35 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-37.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-37.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-37.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-37.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:37 3q29 microdeletion syndrome HP:0000426 Prominent nasal bridge IEA IEA DECIPHER:37 HPO:skoehler May 29, 2013
+DECIPHER:37 3q29 microdeletion syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:37 HPO:skoehler May 29, 2013
+DECIPHER:37 3q29 microdeletion syndrome HP:0000322 Short philtrum IEA IEA DECIPHER:37 HPO:skoehler May 29, 2013
+DECIPHER:37 3q29 microdeletion syndrome HP:0000276 Long face IEA IEA DECIPHER:37 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-38.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-38.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-38.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-38.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:38 Pelizaeus-Merzbacher disease HP:0000639 Nystagmus IEA IEA DECIPHER:38 HPO:skoehler May 29, 2013
+DECIPHER:38 Pelizaeus-Merzbacher disease HP:0002415 Leukodystrophy IEA IEA DECIPHER:38 HPO:skoehler May 29, 2013
+DECIPHER:38 Pelizaeus-Merzbacher disease HP:0001252 Muscular hypotonia IEA IEA DECIPHER:38 HPO:skoehler May 29, 2013
+DECIPHER:38 Pelizaeus-Merzbacher disease HP:0011400 Abnormal CNS myelination IEA IEA DECIPHER:38 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-39.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-39.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-39.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-39.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,8 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:39 8p23.1 deletion syndrome HP:0001627 Abnormality of the heart IEA IEA DECIPHER:39 HPO:skoehler May 29, 2013
+DECIPHER:39 8p23.1 deletion syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:39 HPO:skoehler May 29, 2013
+DECIPHER:39 8p23.1 deletion syndrome HP:0000752 Hyperactivity IEA IEA DECIPHER:39 HPO:skoehler May 29, 2013
+DECIPHER:39 8p23.1 deletion syndrome HP:0001631 Defect in the atrial septum IEA IEA DECIPHER:39 HPO:skoehler May 29, 2013
+DECIPHER:39 8p23.1 deletion syndrome HP:0000028 Cryptorchidism IEA IEA DECIPHER:39 HPO:skoehler May 29, 2013
+DECIPHER:39 8p23.1 deletion syndrome HP:0000776 Congenital diaphragmatic hernia IEA IEA DECIPHER:39 HPO:skoehler May 29, 2013
+DECIPHER:39 8p23.1 deletion syndrome HP:0006695 Atrioventricular canal defect IEA IEA DECIPHER:39 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-4.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-4.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-4.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-4.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:4 Angelman syndrome (Type 1) HP:0002353 EEG abnormality IEA IEA DECIPHER:4 HPO:skoehler May 29, 2013
+DECIPHER:4 Angelman syndrome (Type 1) HP:0001249 Intellectual disability IEA IEA DECIPHER:4 HPO:skoehler May 29, 2013
+DECIPHER:4 Angelman syndrome (Type 1) HP:0000252 Microcephaly IEA IEA DECIPHER:4 HPO:skoehler May 29, 2013
+DECIPHER:4 Angelman syndrome (Type 1) HP:0002078 Truncal ataxia IEA IEA DECIPHER:4 HPO:skoehler May 29, 2013
+DECIPHER:4 Angelman syndrome (Type 1) HP:0001250 Seizures IEA IEA DECIPHER:4 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-42.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-42.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-42.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-42.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,10 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0001627 Abnormality of the heart IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0000347 Micrognathia IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0001249 Intellectual disability IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0000494 Downslanted palpebral fissures IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0004467 Preauricular pit IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0002023 Anal atresia IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0000612 Iris coloboma IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0004322 Short stature IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
+DECIPHER:42 Cat-Eye Syndrome (Type I) HP:0000384 Preauricular skin tag IEA IEA DECIPHER:42 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-43.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-43.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-43.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-43.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,4 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:43 7q11.23 duplication syndrome HP:0000736 Short attention span IEA IEA DECIPHER:43 HPO:skoehler May 29, 2013
+DECIPHER:43 7q11.23 duplication syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:43 HPO:skoehler May 29, 2013
+DECIPHER:43 7q11.23 duplication syndrome HP:0000750 Delayed speech and language development IEA IEA DECIPHER:43 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-44.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-44.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-44.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-44.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:44 2q37 monosomy HP:0001156 Brachydactyly syndrome IEA IEA DECIPHER:44 HPO:skoehler May 29, 2013
+DECIPHER:44 2q37 monosomy HP:0000490 Deeply set eye IEA IEA DECIPHER:44 HPO:skoehler May 29, 2013
+DECIPHER:44 2q37 monosomy HP:0001249 Intellectual disability IEA IEA DECIPHER:44 HPO:skoehler May 29, 2013
+DECIPHER:44 2q37 monosomy HP:0000219 Thin upper lip vermilion IEA IEA DECIPHER:44 HPO:skoehler May 29, 2013
+DECIPHER:44 2q37 monosomy HP:0000311 Round face IEA IEA DECIPHER:44 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-45.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-45.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-45.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-45.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,32 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001419 X-linked recessive inheritance TEA http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 13, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001319 Neonatal hypotonia TEA typical male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 13, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0010864 Intellectual disability, severe PCS PCS male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup; PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000750 Delayed speech and language development TEA hallmark male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002191 Progressive spasticity HP:0003578 Onset in childhood PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002205 Recurrent respiratory infections TEA 75% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001250 Seizures TEA 50% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000717 Autism TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001255 Psychomotor retardation TEA typical male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002022 Feeding difficulties TEA typical male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001508 Failure to thrive TEA typical male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000248 Brachycephaly TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000272 Malar flattening TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000400 Macrotia TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000425 Flattened nasal bridge TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002066 Gait ataxia TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002019 Constipation TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002079 Hypoplasia of the corpus callosum TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000009 Functional abnormality of the bladder TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001432 Early death TEA 50% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000716 Depression TEA rare female female http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002540 Inability to walk TEA 33% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0001344 Absent speech TEA 70% male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000739 Anxiety TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0008758 Stereotypical motor behaviors TEA occasional male male http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000252 Microcephaly PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0000160 Narrow mouth PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002307 Drooling PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002020 Gastroesophageal reflux PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002015 Dysphagia PCS PCS male male PMID:17088400 Sep 15, 2010
+DECIPHER:45 Xq28 (MECP2) duplication dupXq28 HP:0002720 IgA deficiency HP:0003578 Onset in childhood PCS PCS male male PMID:17088400 Sep 15, 2010
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-46.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-46.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-46.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-46.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,12 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0000407 Sensorineural hearing impairment IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0001770 Toe syndactyly IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0007925 Lacrimal duct aplasia IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0000175 Cleft palate IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0000161 Median cleft lip IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0004691 2-3 toe syndactyly IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0000078 Abnormality of the genital system IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0001839 Ectrodactyly (feet) IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0010554 Cutaneous finger syndactyly IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0001171 Ectrodactyly (hands) IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
+DECIPHER:46 Split hand/foot malformation 1 (SHFM1) HP:0000079 Abnormality of the urinary system IEA IEA DECIPHER:46 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-47.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-47.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-47.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-47.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,4 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:47 RCAD (renal cysts and diabetes) HP:0001392 Abnormality of the liver IEA IEA DECIPHER:47 HPO:skoehler May 29, 2013
+DECIPHER:47 RCAD (renal cysts and diabetes) HP:0005562 Multiple renal cysts IEA IEA DECIPHER:47 HPO:skoehler May 29, 2013
+DECIPHER:47 RCAD (renal cysts and diabetes) HP:0000819 Diabetes mellitus IEA IEA DECIPHER:47 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-48.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-48.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-48.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-48.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,4 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:48 Early-onset Alzheimer disease with cerebral amyloid angiopathy HP:0000726 Dementia IEA IEA DECIPHER:48 HPO:skoehler May 29, 2013
+DECIPHER:48 Early-onset Alzheimer disease with cerebral amyloid angiopathy HP:0002185 Neurofibrillary tangles IEA IEA DECIPHER:48 HPO:skoehler May 29, 2013
+DECIPHER:48 Early-onset Alzheimer disease with cerebral amyloid angiopathy HP:0100256 Senile plaques IEA IEA DECIPHER:48 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-51.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-51.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-51.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-51.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,9 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:51 2q33.1 deletion syndrome HP:0000708 Behavioural/Psychiatric Abnormality IEA IEA DECIPHER:51 HPO:skoehler May 29, 2013
+DECIPHER:51 2q33.1 deletion syndrome HP:0000175 Cleft palate IEA IEA DECIPHER:51 HPO:skoehler May 29, 2013
+DECIPHER:51 2q33.1 deletion syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:51 HPO:skoehler May 29, 2013
+DECIPHER:51 2q33.1 deletion syndrome HP:0000023 Inguinal hernia IEA IEA DECIPHER:51 HPO:skoehler May 29, 2013
+DECIPHER:51 2q33.1 deletion syndrome HP:0000218 High palate IEA IEA DECIPHER:51 HPO:skoehler May 29, 2013
+DECIPHER:51 2q33.1 deletion syndrome HP:0004322 Short stature IEA IEA DECIPHER:51 HPO:skoehler May 29, 2013
+DECIPHER:51 2q33.1 deletion syndrome HP:0001250 Seizures IEA IEA DECIPHER:51 HPO:skoehler May 29, 2013
+DECIPHER:51 2q33.1 deletion syndrome HP:0008872 Feeding difficulties in infancy IEA IEA DECIPHER:51 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-52.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-52.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-52.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-52.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,10 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0001627 Abnormality of the heart IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0000664 Synophrys IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0000252 Microcephaly IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0011800 Midface retrusion IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0010808 Protruding tongue IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0001252 Muscular hypotonia IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0003196 Short nose IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
+DECIPHER:52 9q subtelomeric deletion syndrome HP:0000463 Anteverted nares IEA IEA DECIPHER:52 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-53.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-53.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-53.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-53.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:53 Prader-Willi Syndrome (Type 2) HP:0001956 Truncal obesity IEA IEA DECIPHER:53 HPO:skoehler May 29, 2013
+DECIPHER:53 Prader-Willi Syndrome (Type 2) HP:0000135 Hypogonadism IEA IEA DECIPHER:53 HPO:skoehler May 29, 2013
+DECIPHER:53 Prader-Willi Syndrome (Type 2) HP:0001249 Intellectual disability IEA IEA DECIPHER:53 HPO:skoehler May 29, 2013
+DECIPHER:53 Prader-Willi Syndrome (Type 2) HP:0008872 Feeding difficulties in infancy IEA IEA DECIPHER:53 HPO:skoehler May 29, 2013
+DECIPHER:53 Prader-Willi Syndrome (Type 2) HP:0001252 Muscular hypotonia IEA IEA DECIPHER:53 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-54.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-54.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-54.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-54.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:54 Angelman syndrome (Type 2) HP:0002353 EEG abnormality IEA IEA DECIPHER:54 HPO:skoehler May 29, 2013
+DECIPHER:54 Angelman syndrome (Type 2) HP:0001249 Intellectual disability IEA IEA DECIPHER:54 HPO:skoehler May 29, 2013
+DECIPHER:54 Angelman syndrome (Type 2) HP:0000252 Microcephaly IEA IEA DECIPHER:54 HPO:skoehler May 29, 2013
+DECIPHER:54 Angelman syndrome (Type 2) HP:0002078 Truncal ataxia IEA IEA DECIPHER:54 HPO:skoehler May 29, 2013
+DECIPHER:54 Angelman syndrome (Type 2) HP:0001250 Seizures IEA IEA DECIPHER:54 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-57.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-57.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-57.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-57.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:57 17q21.31 recurrent microdeletion syndrome HP:0001249 Intellectual disability IEA IEA DECIPHER:57 HPO:skoehler May 29, 2013
+DECIPHER:57 17q21.31 recurrent microdeletion syndrome HP:0001518 Small for gestational age IEA IEA DECIPHER:57 HPO:skoehler May 29, 2013
+DECIPHER:57 17q21.31 recurrent microdeletion syndrome HP:0008872 Feeding difficulties in infancy IEA IEA DECIPHER:57 HPO:skoehler May 29, 2013
+DECIPHER:57 17q21.31 recurrent microdeletion syndrome HP:0001252 Muscular hypotonia IEA IEA DECIPHER:57 HPO:skoehler May 29, 2013
+DECIPHER:57 17q21.31 recurrent microdeletion syndrome HP:0000276 Long face IEA IEA DECIPHER:57 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-58.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-58.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-58.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-58.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:58 Leri-Weill dyschondrostosis (LWD) - SHOX deletion HP:0003067 Madelung deformity IEA IEA DECIPHER:58 HPO:skoehler May 29, 2013
+DECIPHER:58 Leri-Weill dyschondrostosis (LWD) - SHOX deletion HP:0006394 Limited pronation/supination of forearm IEA IEA DECIPHER:58 HPO:skoehler May 29, 2013
+DECIPHER:58 Leri-Weill dyschondrostosis (LWD) - SHOX deletion HP:0002986 Radial bowing IEA IEA DECIPHER:58 HPO:skoehler May 29, 2013
+DECIPHER:58 Leri-Weill dyschondrostosis (LWD) - SHOX deletion HP:0008873 Disproportionate short-limb short stature IEA IEA DECIPHER:58 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-59.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-59.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-59.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-59.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:59 Adult-onset autosomal dominant leukodystrophy (ADLD) HP:0011096 Peripheral demyelination IEA IEA DECIPHER:59 HPO:skoehler May 29, 2013
+DECIPHER:59 Adult-onset autosomal dominant leukodystrophy (ADLD) HP:0002459 Dysautonomia IEA IEA DECIPHER:59 HPO:skoehler May 29, 2013
+DECIPHER:59 Adult-onset autosomal dominant leukodystrophy (ADLD) HP:0002415 Leukodystrophy IEA IEA DECIPHER:59 HPO:skoehler May 29, 2013
+DECIPHER:59 Adult-onset autosomal dominant leukodystrophy (ADLD) HP:0007256 Abnormality of pyramidal motor function IEA IEA DECIPHER:59 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-62.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-62.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-62.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-62.tab 2015-04-24 21:03:07 UTC (rev 5350)
@@ -0,0 +1,3 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+DECIPHER:62 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) HP:0001249 Intellectual disability IEA IEA DECIPHER:62 HPO:skoehler May 29, 2013
+DECIPHER:62 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) HP:0000252 Microcephaly IEA IEA DECIPHER:62 HPO:skoehler May 29, 2013
Copied: phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-65.tab (from rev 5348, phenotype-commons/annotations/OMIM/by-disease/annotated/DECIPHER-65.tab)
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/DECIPHER-65.tab ...
[truncated message content] |
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From: <koe...@us...> - 2015-04-24 20:00:53
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Revision: 5349
http://sourceforge.net/p/obo/svn/5349
Author: koehlers
Date: 2015-04-24 20:00:50 +0000 (Fri, 24 Apr 2015)
Log Message:
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Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_5/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <koe...@us...> - 2015-04-24 19:56:18
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Revision: 5348
http://sourceforge.net/p/obo/svn/5348
Author: koehlers
Date: 2015-04-24 19:56:16 +0000 (Fri, 24 Apr 2015)
Log Message:
-----------
more directory structure
Added Paths:
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phenotype-commons/annotations/OMIM/by-disease/rare-diseases/DECIPHER/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_1/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_2/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_3/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_4/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/OMIM_6/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <koe...@us...> - 2015-04-24 19:47:18
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Revision: 5347
http://sourceforge.net/p/obo/svn/5347
Author: koehlers
Date: 2015-04-24 19:47:11 +0000 (Fri, 24 Apr 2015)
Log Message:
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adding more structure
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/common-diseases/
phenotype-commons/annotations/OMIM/by-disease/rare-diseases/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <cmu...@us...> - 2015-04-24 02:59:08
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Revision: 5346
http://sourceforge.net/p/obo/svn/5346
Author: cmungall
Date: 2015-04-24 02:59:01 +0000 (Fri, 24 Apr 2015)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2015-04-23/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <koe...@us...> - 2015-04-23 11:23:05
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Revision: 5344
http://sourceforge.net/p/obo/svn/5344
Author: koehlers
Date: 2015-04-23 11:22:58 +0000 (Thu, 23 Apr 2015)
Log Message:
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entered: svn propset lock TRUE annotated/
Property Changed:
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phenotype-commons/annotations/OMIM/by-disease/annotated/
Index: phenotype-commons/annotations/OMIM/by-disease/annotated
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated 2015-04-20 09:41:05 UTC (rev 5343)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated 2015-04-23 11:22:58 UTC (rev 5344)
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated
___________________________________________________________________
Added: lock
## -0,0 +1 ##
+TRUE
\ No newline at end of property
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <pr...@us...> - 2015-04-19 14:00:23
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Revision: 5342
http://sourceforge.net/p/obo/svn/5342
Author: probins
Date: 2015-04-19 14:00:20 +0000 (Sun, 19 Apr 2015)
Log Message:
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Revising annotations based on new terms added today
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613686.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615960.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108720.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108720.tab 2015-04-18 05:17:22 UTC (rev 5341)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108720.tab 2015-04-19 14:00:20 UTC (rev 5342)
@@ -1,40 +1,41 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000028 Cryptorchidism IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000175 Cleft palate IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000272 Malar flattening IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000347 Micrognathia IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000425 Flattened nasal bridge IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000470 Short neck IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000520 Proptosis IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000878 11 pairs of ribs TAS TAS OMIM:108720 HPO:probinson Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001156 Brachydactyly syndrome IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001420 Isolated cases IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001561 Polyhydramnios IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001602 Laryngeal stenosis IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001622 Premature birth IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0001762 Talipes equinovarus IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002007 Frontal bossing IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002084 Encephalocele IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002949 Fused cervical vertebrae IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002968 Rhizomelic limb shortening IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002982 Tibial bowing IEA IEA OMIM:108720 HPO:skoehler Jun 20, 2010
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002986 Radial bowing IEA IEA OMIM:108720 HPO:skoehler Jun 20, 2010
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0002990 Fibular aplasia IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003014 Short humeri TAS TAS OMIM:108720 HPO:probinson Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003042 Elbow dislocation IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003196 Short nose IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003417 Coronal cleft vertebrae IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003826 Stillbirth IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0004592 Thoracic platyspondyly IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006408 Distal tapering femur IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006495 Aplasia/Hypoplasia of the ulna IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0010049 Short metacarpal IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0010743 Short metatarsal IEA IEA OMIM:108720 HPO Feb 17, 2009
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0003097 Short femur TAS TAS OMIM:108720 HPO:probinson Jun 10, 2012
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0006406 Club-shaped proximal femur TAS TAS OMIM:108720 HPO:probinson Jun 10, 2012
-OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0003811 Neonatal death IEA IEA OMIM-CS:MISCELLANEOUS > ALL CASES HAVE BEEN STILLBORN OR IMMEDIATE NEONATAL DEATH OMIM:108720 HPO:skoehler Jan 22, 2013
-OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0001217 Clubbing IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT FEMORA WITH PROXIMAL CLUBBING AND DISTAL TAPERING OMIM:108720 HPO:skoehler Jan 22, 2013
-OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0001217 Clubbing IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT HUMERI WITH PROXIMAL CLUBBING AND DISTAL TAPERING OMIM:108720 HPO:skoehler Jan 22, 2013
-OMIM:108720 #108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:108720 HPO:skoehler Nov 28, 2013
-OMIM:108720 ATELOSTEOGENESIS, TYPE I HP:0000774 Narrow chest TAS TAS OMIM:108720 HPO:probinson Feb 1, 2015
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000028 Cryptorchidism IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000175 Cleft palate IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000272 Malar flattening IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000347 Micrognathia IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000425 Flattened nasal bridge IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000470 Short neck IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000520 Proptosis IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000878 11 pairs of ribs TAS TAS OMIM:108720 HPO:probinson Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001156 Brachydactyly syndrome IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001420 Isolated cases IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001561 Polyhydramnios IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001602 Laryngeal stenosis IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001622 Premature birth IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001762 Talipes equinovarus IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002007 Frontal bossing IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002084 Encephalocele IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002949 Fused cervical vertebrae IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002968 Rhizomelic limb shortening IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002982 Tibial bowing IEA IEA OMIM:108720 HPO:skoehler Jun 20, 2010
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002986 Radial bowing IEA IEA OMIM:108720 HPO:skoehler Jun 20, 2010
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002990 Fibular aplasia IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0005792 Short humerus TAS TAS OMIM:108720 HPO:probinson Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003042 Elbow dislocation IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003196 Short nose IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003417 Coronal cleft vertebrae IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003826 Stillbirth IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0004592 Thoracic platyspondyly IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0006408 Distal tapering femur IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0006495 Aplasia/Hypoplasia of the ulna IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0010049 Short metacarpal IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0010743 Short metatarsal IEA IEA OMIM:108720 HPO Feb 17, 2009
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003097 Short femur TAS TAS OMIM:108720 HPO:probinson Jun 10, 2012
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0006406 Club-shaped proximal femur TAS TAS OMIM:108720 HPO:probinson Jun 10, 2012
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003811 Neonatal death IEA IEA OMIM-CS:MISCELLANEOUS > ALL CASES HAVE BEEN STILLBORN OR IMMEDIATE NEONATAL DEATH OMIM:108720 HPO:skoehler Jan 22, 2013
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001217 Clubbing IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT FEMORA WITH PROXIMAL CLUBBING AND DISTAL TAPERING OMIM:108720 HPO:skoehler Jan 22, 2013
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001217 Clubbing IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT HUMERI WITH PROXIMAL CLUBBING AND DISTAL TAPERING OMIM:108720 HPO:skoehler Jan 22, 2013
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:108720 HPO:skoehler Nov 28, 2013
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000774 Narrow chest TAS TAS OMIM:108720 HPO:probinson Feb 1, 2015
+OMIM:108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0030330 Multinucleated giant chondrocytes in epiphyseal cartilage TAS TAS OMIM:108720 HPO:probinson Apr 19, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118100.tab 2015-04-18 05:17:22 UTC (rev 5341)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118100.tab 2015-04-19 14:00:20 UTC (rev 5342)
@@ -23,3 +23,4 @@
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0007291 Posterior fossa cyst PCS PCS occasional ISBN-13:978-0721606156 HPO:probinson Apr 24, 2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0002813 Abnormality of limb bone morphology HP:0003577 Congenital onset PCS PCS occasional PMID:16585825;PMID:18425797 HPO:probinson Apr 24, 2012
MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0005640 Abnormal vertebral segmentation and fusion HP:0003577 Congenital onset PCS PCS hallmark PMID:18425797 HPO:probinson Apr 24, 2012
+MIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT MIM:601147 GROWTH/DIFFERENTIATION FACTOR 6 MIM:601147 / wt (alleles .0001, 0002, 0003, 0004) GDF6 HP:0030325 Cervicomedullary schisis PCS PCS PMID:11950676 HPO:probinson Apr 19, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab 2015-04-18 05:17:22 UTC (rev 5341)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab 2015-04-19 14:00:20 UTC (rev 5342)
@@ -24,9 +24,9 @@
OMIM:224300 DYSOSTEOSCLEROSIS HP:0002659 Increased susceptibility to fractures IEA IEA OMIM:224300 HPO Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0002689 Absent paranasal sinuses TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0008479 Hypoplastic vertebral bodies TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002868 Narrow iliac wings IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002868 Narrow iliac wings TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0002870 Obstructive sleep apnea TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0003015 Flared metaphyses TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0003015 Flared metaphysis TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0003301 Irregular vertebral endplates IEA IEA OMIM:224300 HPO Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0003498 Disproportionate short stature TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0005089 Abnormal metaphyseal trabeculation TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
@@ -34,9 +34,9 @@
OMIM:224300 DYSOSTEOSCLEROSIS HP:0006383 Progressive bowing of long bones TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0006429 Broad femoral neck TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0006480 Premature loss of teeth TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011349 Abducens palsy TAS TAS OMIM-CS:HEAD AND NECK_FACE > ABDUCENS PALSY OMIM:224300 HPO:skoehler Oct 17, 2012
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011220 Prominent forehead TAS TAS OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:224300 HPO:skoehler Oct 17, 2012
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0007209 Facial paralysis TAS TAS OMIM-CS:HEAD AND NECK_FACE > FACIAL PARALYSIS OMIM:224300 HPO:skoehler Oct 22, 2013
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0011349 Abducens palsy TAS TAS OMIM-CS:HEAD AND NECK_FACE > ABDUCENS PALSY OMIM:224300 HPO:skoehler Oct 17, 2012
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0011220 Prominent forehead TAS TAS OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:224300 HPO:skoehler Oct 17, 2012
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0007209 Facial paralysis TAS TAS OMIM-CS:HEAD AND NECK_FACE > FACIAL PARALYSIS OMIM:224300 HPO:skoehler Oct 22, 2013
OMIM:224300 DYSOSTEOSCLEROSIS HP:0000773 Short ribs TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
OMIM:224300 DYSOSTEOSCLEROSIS HP:0000885 Broad ribs TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
OMIM:224300 DYSOSTEOSCLEROSIS HP:0100923 Clavicular sclerosis TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
@@ -44,3 +44,4 @@
OMIM:224300 DYSOSTEOSCLEROSIS HP:0002694 Sclerosis of skull base TAS TAS OMIM:224300 HPO Mar 22, 2015
OMIM:224300 DYSOSTEOSCLEROSIS HP:0005019 Diaphyseal thickening TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
OMIM:224300 DYSOSTEOSCLEROSIS HP:0000941 Short diaphyses TAS TAS OMIM:224300 HPO Mar 22, 2015
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0030320 Increased intervertebral space TAS TAS OMIM:224300 HPO:probinson Apr 19, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258800.tab 2015-04-18 05:17:22 UTC (rev 5341)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258800.tab 2015-04-19 14:00:20 UTC (rev 5342)
@@ -1,5 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:258800 ORAL SENSIBILITY, DISTURBANCE OF HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:258800 HPO 17.02.2009
-OMIM:258800 ORAL SENSIBILITY, DISTURBANCE OF HP:0001333 Abnormality of the sensory nervous system IEA IEA OMIM:258800 HPO 17.02.2009
-OMIM:258800 ORAL SENSIBILITY, DISTURBANCE OF HP:0002307 Drooling IEA IEA OMIM:258800 HPO 17.02.2009
-OMIM:258800 ORAL SENSIBILITY, DISTURBANCE OF HP:0009090 Facial diplegic appearance IEA IEA OMIM:258800 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:258800 ORAL SENSIBILITY, DISTURBANCE OF HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:258800 HPO:probinson Feb 17, 2009
+OMIM:258800 ORAL SENSIBILITY, DISTURBANCE OF HP:0002311 Incoordination TAS TAS OMIM:258800 HPO:probinson Feb 17, 2009
+OMIM:258800 ORAL SENSIBILITY, DISTURBANCE OF HP:0002307 Drooling TAS TAS OMIM:258800 HPO:probinson Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259720.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259720.tab 2015-04-18 05:17:22 UTC (rev 5341)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259720.tab 2015-04-19 14:00:20 UTC (rev 5342)
@@ -1,7 +1,7 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:259720 HPO 17.02.2009
-OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 HP:0000238 Hydrocephalus IEA IEA OMIM:259720 HPO 17.02.2009
-OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 HP:0000924 Abnormality of the musculoskeletal system IEA IEA OMIM:259720 HPO 17.02.2009
-OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:259720 HPO 17.02.2009
-OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 HP:0003826 Stillbirth IEA IEA OMIM:259720 HPO:skoehler 20.06.2010
-OMIM:259720 #259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5;;OSTEOPETROSIS, INFANTILE MALIGNANT 3 HP:0011002 Osteopetrosis IEA IEA MODIFIER:SEVERE;OMIM-CS:SKEL > SEVERE OSTEOPETROSIS OMIM:259720 HPO:skoehler 10.06.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:259720 HPO:probinson Feb 17, 2009
+OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 HP:0000238 Hydrocephalus TAS TAS OMIM:259720 HPO:probinson Feb 17, 2009
+OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:259720 HPO:probinson Feb 17, 2009
+OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 HP:0003826 Stillbirth TAS TAS OMIM:259720 HPO:skoehler Jun 20, 2010
+OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 HP:0011002 Osteopetrosis TAS TAS MODIFIER:SEVERE;OMIM-CS:SKEL > SEVERE OSTEOPETROSIS OMIM:259720 HPO:skoehler Jun 10, 2013
+OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 HP:0030328 Decreased osteoclast count TAS TAS OMIM:259720 HPO:probinson Apr 19, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613686.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613686.tab 2015-04-18 05:17:22 UTC (rev 5341)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613686.tab 2015-04-19 14:00:20 UTC (rev 5342)
@@ -1,17 +1,18 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0010306 Short thorax TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > SHORT THORAX OMIM:613686 HPO:skoehler Oct 17, 2012
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0000772 Abnormality of the ribs TAS TAS OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > RIB ANOMALIES OMIM:613686 HPO:skoehler Oct 17, 2012
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0004322 Short stature TAS TAS OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:613686 HPO:skoehler Oct 17, 2012
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:613686 HPO:skoehler Oct 17, 2012
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0003310 Abnormality of the odontoid process IEA IEA OMIM-CS:SKELETAL_SPINE > ABNORMAL ODONTOID PROCESS OMIM:613686 HPO:skoehler Oct 17, 2012
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0003305 Block vertebrae TAS TAS OMIM-CS:SKELETAL_SPINE > BLOCK VERTEBRAE OMIM:613686 HPO:skoehler Oct 17, 2012
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0002937 Hemivertebrae TAS TAS OMIM-CS:SKELETAL_SPINE > HEMIVERTEBRAE OMIM:613686 HPO:skoehler Oct 17, 2012
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0002948 Vertebral fusion TAS TAS OMIM-CS:SKELETAL_SPINE > VERTEBRAL FUSION OMIM:613686 HPO:skoehler Oct 17, 2012
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0001651 Dextrocardia TAS TAS OMIM-CS:CARDIOVASCULAR_HEART > DEXTROCARDIA OMIM:613686 HPO:skoehler Jan 28, 2014
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0001696 Situs inversus totalis TAS TAS OMIM-CS:CHEST > SITUS INVERSUS OMIM:613686 HPO:skoehler Jan 28, 2014
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0003298 Spina bifida occulta TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPINA BIFIDA OCCULTA OMIM:613686 HPO:skoehler Jan 28, 2014
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0002475 Myelomeningocele TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MYELOMENINGOCELE OMIM:613686 HPO:skoehler Apr 4, 2014
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0002111 Restrictive respiratory insufficiency TAS TAS OMIM:613686 HPO:probinson Feb 21, 2015
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0000921 Missing ribs TAS TAS OMIM:613686 HPO:probinson Feb 21, 2015
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0000902 Rib fusion TAS TAS OMIM:613686 HPO:probinson Feb 21, 2015
-OMIM:613686 #613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0003422 Vertebral segmentation defect TAS TAS OMIM:613686 HPO:probinson Feb 21, 2015
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0010306 Short thorax TAS TAS OMIM-CS:CHEST_EXTERNAL FEATURES > SHORT THORAX OMIM:613686 HPO:skoehler Oct 17, 2012
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0000772 Abnormality of the ribs TAS TAS OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > RIB ANOMALIES OMIM:613686 HPO:skoehler Oct 17, 2012
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0004322 Short stature TAS TAS OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:613686 HPO:skoehler Oct 17, 2012
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:613686 HPO:skoehler Oct 17, 2012
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0003310 Abnormality of the odontoid process IEA IEA OMIM-CS:SKELETAL_SPINE > ABNORMAL ODONTOID PROCESS OMIM:613686 HPO:skoehler Oct 17, 2012
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0003305 Block vertebrae TAS TAS OMIM-CS:SKELETAL_SPINE > BLOCK VERTEBRAE OMIM:613686 HPO:skoehler Oct 17, 2012
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0002937 Hemivertebrae TAS TAS OMIM-CS:SKELETAL_SPINE > HEMIVERTEBRAE OMIM:613686 HPO:skoehler Oct 17, 2012
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0002948 Vertebral fusion TAS TAS OMIM-CS:SKELETAL_SPINE > VERTEBRAL FUSION OMIM:613686 HPO:skoehler Oct 17, 2012
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0001651 Dextrocardia TAS TAS OMIM-CS:CARDIOVASCULAR_HEART > DEXTROCARDIA OMIM:613686 HPO:skoehler Jan 28, 2014
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0001696 Situs inversus totalis TAS TAS OMIM-CS:CHEST > SITUS INVERSUS OMIM:613686 HPO:skoehler Jan 28, 2014
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0003298 Spina bifida occulta TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPINA BIFIDA OCCULTA OMIM:613686 HPO:skoehler Jan 28, 2014
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0002475 Myelomeningocele TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MYELOMENINGOCELE OMIM:613686 HPO:skoehler Apr 4, 2014
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0002111 Restrictive respiratory insufficiency TAS TAS OMIM:613686 HPO:probinson Feb 21, 2015
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0000921 Missing ribs TAS TAS OMIM:613686 HPO:probinson Feb 21, 2015
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0000902 Rib fusion TAS TAS OMIM:613686 HPO:probinson Feb 21, 2015
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0003422 Vertebral segmentation defect TAS TAS OMIM:613686 HPO:probinson Feb 21, 2015
+OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 HP:0030323 Unilateral vertebral artery hypoplasia TAS TAS OMIM:613686 HPO:probinson Apr 19, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615960.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615960.tab 2015-04-18 05:17:22 UTC (rev 5341)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615960.tab 2015-04-19 14:00:20 UTC (rev 5342)
@@ -1,16 +1,18 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000646 Amblyopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > AMBLYOPIA OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000545 Myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYOPIA OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000639 Nystagmus IEA IEA OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000657 Oculomotor apraxia IEA IEA OMIM-CS:HEAD AND NECK_EYES > OCULOMOTOR APRAXIA OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0001105 Retinal atrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL ATROPHY OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000556 Retinal dystrophy IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DYSTROPHY OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0002350 Cerebellar cyst IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR CYSTS OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0007033 Cerebellar dysplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR DYSPLASIA OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0001320 Cerebellar vermis hypoplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR VERMIS HYPOPLASIA OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0001270 Motor delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0002198 Dilated fourth ventricle IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENLARGED FOURTH VENTRICLE OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0002518 Abnormality of the periventricular white matter IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PERIVENTRICULAR WHITE MATTER ABNORMALITIES OMIM:615960 HPO:skoehler 06.10.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0001252 Muscular hypotonia IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA (IN SOME PATIENTS) OMIM:615960 HPO:skoehler 26.11.2014
-OMIM:615960 #615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED SPEECH OMIM:615960 HPO:skoehler 26.11.2014
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000646 Amblyopia TAS TAS OMIM-CS:HEAD AND NECK_EYES > AMBLYOPIA OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000545 Myopia TAS TAS OMIM-CS:HEAD AND NECK_EYES > MYOPIA OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000639 Nystagmus TAS TAS OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000657 Oculomotor apraxia TAS TAS OMIM-CS:HEAD AND NECK_EYES > OCULOMOTOR APRAXIA OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0001105 Retinal atrophy TAS TAS OMIM-CS:HEAD AND NECK_EYES > RETINAL ATROPHY OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000556 Retinal dystrophy TAS TAS OMIM-CS:HEAD AND NECK_EYES > RETINAL DYSTROPHY OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000486 Strabismus TAS TAS OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0002350 Cerebellar cyst TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR CYSTS OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0007033 Cerebellar dysplasia TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR DYSPLASIA OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0001320 Cerebellar vermis hypoplasia TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR VERMIS HYPOPLASIA OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0001270 Motor delay TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0002198 Dilated fourth ventricle TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENLARGED FOURTH VENTRICLE OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0002518 Abnormality of the periventricular white matter TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PERIVENTRICULAR WHITE MATTER ABNORMALITIES OMIM:615960 HPO:skoehler Oct 6, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0001252 Muscular hypotonia TAS TAS rare OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA (IN SOME PATIENTS) OMIM:615960 HPO:skoehler Nov 26, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000750 Delayed speech and language development TAS TAS OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED SPEECH OMIM:615960 HPO:skoehler Nov 26, 2014
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:615960 HPO:skoehler Apr 19, 2015
+OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS HP:0030329 Retinal thinning PCS PCS PMID:25105227 HPO:probinson Apr 19, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-04-18 05:17:31
|
Revision: 5341
http://sourceforge.net/p/obo/svn/5341
Author: probins
Date: 2015-04-18 05:17:22 +0000 (Sat, 18 Apr 2015)
Log Message:
-----------
Revision some abn metabolism entries
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260005.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260480.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260650.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260910.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260970.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261750.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262875.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263610.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229800.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229800.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,3 +1,3 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:229800 FRUCTOSURIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:229800 HPO 17.02.2009
-OMIM:229800 FRUCTOSURIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:229800 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:229800 FRUCTOSURIA, ESSENTIAL HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:229800 HPO Feb 17, 2009
+OMIM:229800 FRUCTOSURIA, ESSENTIAL HP:0011033 Impairment of fructose metabolism TAS TAS OMIM:229800 HPO Apr 18, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260005.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260005.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260005.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,11 +1,9 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:260005 HPO 17.02.2009
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0000119 Abnormality of the genitourinary system IEA IEA OMIM:260005 HPO 17.02.2009
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:260005 HPO 17.02.2009
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0002013 Vomiting IEA IEA OMIM:260005 HPO 17.02.2009
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0002014 Diarrhea IEA IEA OMIM:260005 HPO 17.02.2009
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0002027 Abdominal pain IEA IEA OMIM:260005 HPO 17.02.2009
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0004387 Enterocolitis IEA IEA OMIM:260005 HPO 17.02.2009
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0003137 Prolinuria TAS TAS Disease name contained:inase deficiency|oxoprolinuria due to oxoprolinase OMIM:260005 HPO:skoehler 21.01.2015
-OMIM:260005 5-@OXOPROLINASE DEFICIENCY HP:0040142 5-oxoprolinase deficiency TAS TAS Disease name contained:inase deficiency|oxoprolinuria due to oxoprolinase OMIM:260005 HPO:skoehler 21.01.2015
-
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:260005 HPO Feb 17, 2009
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD HP:0002013 Vomiting IEA IEA OMIM:260005 HPO Feb 17, 2009
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD HP:0002014 Diarrhea IEA IEA OMIM:260005 HPO Feb 17, 2009
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD HP:0002027 Abdominal pain IEA IEA OMIM:260005 HPO Feb 17, 2009
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD HP:0004387 Enterocolitis IEA IEA OMIM:260005 HPO Feb 17, 2009
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD HP:0003137 Prolinuria TAS TAS Disease name contained:inase deficiency|oxoprolinuria due to oxoprolinase OMIM:260005 HPO:skoehler Jan 21, 2015
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD HP:0040142 5-oxoprolinase deficiency TAS TAS Disease name contained:inase deficiency|oxoprolinuria due to oxoprolinase OMIM:260005 HPO:skoehler Jan 21, 2015
+OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD HP:0008672 Calcium oxalate nephrolithiasis TAS TAS OMIM:260005 HPO:skoehler Apr 18, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260480.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260480.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260480.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,11 +1,10 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000217 Xerostomia IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000505 Visual impairment IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000952 Jaundice IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000989 Pruritus IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000992 Cutaneous photosensitivity IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0001097 Keratoconjunctivitis sicca IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0001733 Pancreatitis IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:260480 HPO 17.02.2009
-OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0002240 Hepatomegaly IEA IEA OMIM:260480 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:260480 HPO Feb 17, 2009
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000217 Xerostomia IEA IEA OMIM:260480 HPO Feb 17, 2009
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000505 Visual impairment IEA IEA OMIM:260480 HPO Feb 17, 2009
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000952 Jaundice IEA IEA OMIM:260480 HPO Feb 17, 2009
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000989 Pruritus IEA IEA OMIM:260480 HPO Feb 17, 2009
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0000992 Cutaneous photosensitivity IEA IEA OMIM:260480 HPO Feb 17, 2009
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0001097 Keratoconjunctivitis sicca IEA IEA OMIM:260480 HPO Feb 17, 2009
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0001733 Pancreatitis IEA IEA OMIM:260480 HPO Feb 17, 2009
+OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0002240 Hepatomegaly IEA IEA OMIM:260480 HPO Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260650.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260650.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260650.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,10 +1,10 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA 17.02.2009
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0000651 Diplopia IEA IEA 17.02.2009
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0000988 Skin rash TAS TAS MIM:260650 HPO:probinson 17.02.2009
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0000518 Cataract TAS TAS MIM:260650 HPO:probinson 17.02.2009
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001251 Ataxia IEA IEA 17.02.2009
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001260 Dysarthria IEA IEA 17.02.2009
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001263 Global developmental delay IEA IEA 17.02.2009
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001289 Confusion IEA IEA 17.02.2009
-MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001939 Abnormality of metabolism/homeostasis IEA IEA 17.02.2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA Feb 17, 2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0000651 Diplopia IEA IEA Feb 17, 2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0000988 Skin rash TAS TAS MIM:260650 HPO:probinson Feb 17, 2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0000518 Cataract TAS TAS MIM:260650 HPO:probinson Feb 17, 2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001251 Ataxia IEA IEA Feb 17, 2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001260 Dysarthria IEA IEA Feb 17, 2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001263 Global developmental delay IEA IEA Feb 17, 2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0001289 Confusion IEA IEA Feb 17, 2009
+MIM:260650 PELLAGRA-LIKE SYNDROME HP:0003355 Aminoaciduria TAS TAS NOT NOT Apr 18, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260910.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260910.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260910.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,6 +1,5 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:260910 HPO 17.02.2009
-OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0000234 Abnormality of the head IEA IEA OMIM:260910 HPO 17.02.2009
-OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0001596 Alopecia IEA IEA OMIM:260910 HPO:skoehler 20.06.2010
-OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:260910 HPO 17.02.2009
-OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0012322 Perifolliculitis IEA IEA Disease name contained:perifolliculitis capitis abscedens e OMIM:260910 HPO:skoehler 27.01.2015
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0003745 Sporadic TAS TAS OMIM:260910 HPO Feb 17, 2009
+OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0001596 Alopecia IEA IEA OMIM:260910 HPO:skoehler Jun 20, 2010
+OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0012322 Perifolliculitis IEA IEA Disease name contained:perifolliculitis capitis abscedens e OMIM:260910 HPO:skoehler Jan 27, 2015
+OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL HP:0002293 Alopecia of scalp IEA IEA Disease name contained:perifolliculitis capitis abscedens e OMIM:260910 HPO:skoehler Apr 18, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260970.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260970.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260970.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,6 +1,7 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, ANDSPONGY DEGENERATION OF BRAIN HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:260970 HPO 17.02.2009
-OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, ANDSPONGY DEGENERATION OF BRAIN HP:0001251 Ataxia IEA IEA OMIM:260970 HPO 17.02.2009
-OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, ANDSPONGY DEGENERATION OF BRAIN HP:0001271 Polyneuropathy IEA IEA OMIM:260970 HPO 17.02.2009
-OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, ANDSPONGY DEGENERATION OF BRAIN HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:260970 HPO 17.02.2009
-OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, ANDSPONGY DEGENERATION OF BRAIN HP:0006976 Focal necrotizing encephalopathy IEA IEA OMIM:260970 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:260970 HPO Feb 17, 2009
+OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND HP:0001251 Ataxia IEA IEA OMIM:260970 HPO Feb 17, 2009
+OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND HP:0001271 Polyneuropathy IEA IEA OMIM:260970 HPO Feb 17, 2009
+OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND HP:0006976 Necrotizing encephalopathy IEA IEA OMIM:260970 HPO Feb 17, 2009
+OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND HP:0007313 Cerebral degeneration TAS TAS OMIM:260970 HPO Apr 18, 2015
+OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND HP:0007267 Chronic axonal neuropathy TAS TAS OMIM:260970 HPO Apr 18, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261500.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261500.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,3 +1,3 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:261500 PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:261500 HPO 17.02.2009
-OMIM:261500 PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:261500 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:261500 EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:261500 HPO Feb 17, 2009
+OMIM:261500 EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD HP:0001879 Abnormality of eosinophils TAS TAS OMIM:261500 HPO Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261750.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261750.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-261750.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,7 +1,9 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:261750 HPO 17.02.2009
-OMIM:261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE HP:0001252 Muscular hypotonia IEA IEA OMIM:261750 HPO 17.02.2009
-OMIM:261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:261750 HPO 17.02.2009
-OMIM:261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE HP:0002014 Diarrhea IEA IEA OMIM:261750 HPO 17.02.2009
-OMIM:261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE HP:0002240 Hepatomegaly IEA IEA OMIM:261750 HPO 17.02.2009
-OMIM:261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE HP:0004322 Short stature IEA IEA OMIM:261750 HPO:skoehler 20.06.2010
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:261750 HPO:probinson Feb 17, 2009
+OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B HP:0001252 Muscular hypotonia TAS TAS OMIM:261750 HPO:probinson Feb 17, 2009
+OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B HP:0002014 Diarrhea TAS TAS OMIM:261750 HPO:probinson Feb 17, 2009
+OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B HP:0002240 Hepatomegaly TAS TAS OMIM:261750 HPO:probinson Feb 17, 2009
+OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B HP:0004322 Short stature TAS TAS OMIM:261750 HPO:skoehler Jun 20, 2010
+OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B HP:0009051 Increased muscle glycogen content TAS TAS OMIM:261750 HPO:probinson Apr 18, 2015
+OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B HP:0006568 Increased hepatic glycogen content TAS TAS OMIM:261750 HPO:probinson Apr 18, 2015
+OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B HP:0001324 Muscle weakness TAS TAS Mild OMIM:261750 HPO:probinson Apr 18, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262710.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262710.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262710.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,7 +1,7 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:262710 HPO 17.02.2009
-OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0000821 Hypothyroidism IEA IEA OMIM:262710 HPO 17.02.2009
-OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0000839 Pituitary dwarfism IEA IEA OMIM:262710 HPO 17.02.2009
-OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0001510 Growth delay IEA IEA OMIM:262710 HPO 17.02.2009
-OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:262710 HPO 17.02.2009
-OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0002690 Large sella turcica IEA IEA OMIM:262710 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:262710 HPO Feb 17, 2009
+OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0000821 Hypothyroidism IEA IEA OMIM:262710 HPO Feb 17, 2009
+OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0000839 Pituitary dwarfism IEA IEA OMIM:262710 HPO Feb 17, 2009
+OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0001510 Growth delay IEA IEA OMIM:262710 HPO Feb 17, 2009
+OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0002690 Large sella turcica IEA IEA OMIM:262710 HPO Feb 17, 2009
+OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA HP:0000824 Growth hormone deficiency TAS TAS OMIM:262710 HPO Apr 18, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262875.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262875.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-262875.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,4 +1,4 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:262875 HPO 17.02.2009
-OMIM:262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:262875 HPO 17.02.2009
-OMIM:262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT HP:0004417 Intermittent claudication IEA IEA OMIM:262875 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:262875 HPO Feb 17, 2009
+OMIM:262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:262875 HPO Feb 17, 2009
+OMIM:262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT HP:0004417 Intermittent claudication IEA IEA OMIM:262875 HPO Feb 17, 2009
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263600.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263600.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,3 +1,3 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:263600 POLYSACCHARIDE, STORAGE OF UNUSUAL HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:263600 HPO 17.02.2009
-OMIM:263600 POLYSACCHARIDE, STORAGE OF UNUSUAL HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:263600 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:263600 POLYSACCHARIDE, STORAGE OF UNUSUAL HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:263600 HPO:probinson Feb 17, 2009
+OMIM:263600 POLYSACCHARIDE, STORAGE OF UNUSUAL HP:0011012 Abnormality of polysaccharide metabolism TAS TAS OMIM:263600 HPO:probinson Apr 18, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263610.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263610.tab 2015-04-12 23:04:36 UTC (rev 5340)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-263610.tab 2015-04-18 05:17:22 UTC (rev 5341)
@@ -1,3 +1,3 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC HP:0001561 Polyhydramnios IEA IEA OMIM:263610 HPO 17.02.2009
-OMIM:263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:263610 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC HP:0001561 Polyhydramnios TAS TAS OMIM:263610 HPO:probinson Feb 17, 2009
+OMIM:263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:263610 HPO:probinson Apr 18, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2015-04-12 23:04:44
|
Revision: 5340
http://sourceforge.net/p/obo/svn/5340
Author: cmungall
Date: 2015-04-12 23:04:36 +0000 (Sun, 12 Apr 2015)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2015-04-12/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-03-30 08:59:29
|
Revision: 5337
http://sourceforge.net/p/obo/svn/5337
Author: probins
Date: 2015-03-30 08:59:26 +0000 (Mon, 30 Mar 2015)
Log Message:
-----------
New disease annotations
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600522.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612666.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616227.tab
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600522.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600522.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600522.tab 2015-03-30 08:59:26 UTC (rev 5337)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A HP:0002584 Intestinal bleeding PCS PCS 1/1 pmid:18451993 HPO:probinson Mar 30, 2015
+OMIM:600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A HP:0001891 Iron deficiency anemia PCS PCS 1/1 pmid:18451993 HPO:probinson Mar 30, 2015
+OMIM:600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A HP:0005229 Jejunoileal ulceration PCS PCS 1/1 pmid:18451993 HPO:probinson Mar 30, 2015
+OMIM:600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A HP:0000007 Autosomal recessive inheritance PCS PCS 1/1 pmid:18451993 HPO:probinson Mar 30, 2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612666.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612666.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612666.tab 2015-03-30 08:59:26 UTC (rev 5337)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK HP:0000006 Autosomal dominant inheritance PCS PCS pmid:23862974 HPO:probinson Mar 30, 2015
+OMIM:612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK HP:0000089 Renal hypoplasia PCS PCS pmid:23862974 HPO:probinson Mar 30, 2015
+OMIM:612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK HP:0000074 Ureteropelvic junction obstruction PCS PCS pmid:23862974 HPO:probinson Mar 30, 2015
+OMIM:612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK HP:0000076 Vesicoureteral reflux PCS PCS pmid:23862974 HPO:probinson Mar 30, 2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616227.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616227.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616227.tab 2015-03-30 08:59:26 UTC (rev 5337)
@@ -0,0 +1,9 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:616227 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA ALG14 HP:0003473 Fatigable weakness 2/2 pmid:23404334 HPO:probinson Mar 30, 2015
+OMIM:616227 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA ALG14 HP:0002359 Frequent falls pmid:23404334 HPO:probinson Mar 30, 2015
+OMIM:616227 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA ALG14 HP:0030208 Acetylcholine receptor antibody positivity 2/2 NOT NOT pmid:23404334 HPO:probinson Mar 30, 2015
+OMIM:616227 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA ALG14 HP:0002828 Multiple joint contractures 6/7 pmid:23404334 HPO:probinson Mar 30, 2015
+OMIM:616227 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA ALG14 HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 5/5 pmid:23404334 HPO:probinson Mar 30, 2015
+OMIM:616227 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA ALG14 HP:0000508 Ptosis 1/7 Mild pmid:23404334 HPO:probinson Mar 30, 2015
+OMIM:616227 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA ALG14 HP:0030205 Increased jitter at single fibre EMG 4/4 pmid:23404334 HPO:probinson Mar 30, 2015
+OMIM:616227 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA ALG14 HP:0000007 Autosomal recessive inheritance pmid:23404334 HPO:probinson Mar 30, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2015-03-29 10:26:09
|
Revision: 5336
http://sourceforge.net/p/obo/svn/5336
Author: koehlers
Date: 2015-03-29 10:26:06 +0000 (Sun, 29 Mar 2015)
Log Message:
-----------
fixing wrong disease ID field
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-111700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615074.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615593.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615897.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616117.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-111700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-111700.tab 2015-03-29 10:03:51 UTC (rev 5335)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-111700.tab 2015-03-29 10:26:06 UTC (rev 5336)
@@ -1,4 +1,4 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0000007 Autosomal recessive inheritance PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
-111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0004446 Stomatocytosis PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
-111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0004870 Chronic hemolytic anemia PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
+OMIM:111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0000007 Autosomal recessive inheritance PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
+OMIM:111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0004446 Stomatocytosis PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
+OMIM:111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0004870 Chronic hemolytic anemia PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615074.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615074.tab 2015-03-29 10:03:51 UTC (rev 5335)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615074.tab 2015-03-29 10:26:06 UTC (rev 5336)
@@ -1,11 +1,11 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000006 Autosomal dominant inheritance PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0010864 Intellectual disability, severe PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0002463 Language impairment PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000455 Broad nasal tip PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000322 Short philtrum PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0008070 Sparse hair PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000486 Strabismus PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0001263 Global developmental delay PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0001319 Neonatal hypotonia PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
-615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000748 Inappropriate laughter PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000006 Autosomal dominant inheritance PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0010864 Intellectual disability, severe PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0002463 Language impairment PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000455 Broad nasal tip PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000322 Short philtrum PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0008070 Sparse hair PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000486 Strabismus PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0001263 Global developmental delay PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0001319 Neonatal hypotonia PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
+OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000748 Inappropriate laughter PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615593.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615593.tab 2015-03-29 10:03:51 UTC (rev 5335)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615593.tab 2015-03-29 10:26:06 UTC (rev 5336)
@@ -1,6 +1,6 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0000007 Autosomal recessive inheritance PCS PCS pmid:23897980 HPO:probinson Mar 28, 2015
-615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0100726 Kaposi's sarcoma HP:0011463 Childhood onset PCS PCS 3/3 pmid:20156905 HPO:probinson Mar 28, 2015
-615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0001744 Splenomegaly PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
-615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0001876 Pancytopenia PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
-615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0004844 Coombs-positive hemolytic anemia PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
+OMIM:615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0000007 Autosomal recessive inheritance PCS PCS pmid:23897980 HPO:probinson Mar 28, 2015
+OMIM:615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0100726 Kaposi's sarcoma HP:0011463 Childhood onset PCS PCS 3/3 pmid:20156905 HPO:probinson Mar 28, 2015
+OMIM:615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0001744 Splenomegaly PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
+OMIM:615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0001876 Pancytopenia PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
+OMIM:615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0004844 Coombs-positive hemolytic anemia PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615897.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615897.tab 2015-03-29 10:03:51 UTC (rev 5335)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615897.tab 2015-03-29 10:26:06 UTC (rev 5336)
@@ -1,6 +1,6 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0000007 Autosomal recessive inheritance PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
-615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0005364 Severe viral infections PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
-615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0001888 Lymphopenia PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
-615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0008348 Immunoglobulin IgG2 deficiency PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
-615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0030253 Defective T cell proliferation PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+OMIM:615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0000007 Autosomal recessive inheritance PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+OMIM:615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0005364 Severe viral infections PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+OMIM:615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0001888 Lymphopenia PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+OMIM:615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0008348 Immunoglobulin IgG2 deficiency PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+OMIM:615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0030253 Defective T cell proliferation PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616117.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616117.tab 2015-03-29 10:03:51 UTC (rev 5335)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616117.tab 2015-03-29 10:26:06 UTC (rev 5336)
@@ -1,5 +1,5 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0000006 Autosomal dominant inheritance pmid:24925317 HPO:probinson Mar 28, 2015
-616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0001644 Dilated cardiomyopathy pmid:24925317 HPO:probinson Mar 28, 2015
-616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0001692 Primary atrial arrhythmia pmid:24925317 HPO:probinson Mar 28, 2015
-616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0011711 Left anterior fascicular block pmid:24925317 HPO:probinson Mar 28, 2015
+OMIM:616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0000006 Autosomal dominant inheritance pmid:24925317 HPO:probinson Mar 28, 2015
+OMIM:616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0001644 Dilated cardiomyopathy pmid:24925317 HPO:probinson Mar 28, 2015
+OMIM:616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0001692 Primary atrial arrhythmia pmid:24925317 HPO:probinson Mar 28, 2015
+OMIM:616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0011711 Left anterior fascicular block pmid:24925317 HPO:probinson Mar 28, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-03-29 10:04:00
|
Revision: 5335
http://sourceforge.net/p/obo/svn/5335
Author: probins
Date: 2015-03-29 10:03:51 +0000 (Sun, 29 Mar 2015)
Log Message:
-----------
Modifying anntoations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175050.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613791.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157900.tab 2015-03-28 17:05:28 UTC (rev 5334)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157900.tab 2015-03-29 10:03:51 UTC (rev 5335)
@@ -9,7 +9,6 @@
MIM:157900 MOEBIUS SYNDROME HP:0000565 Esotropia IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0000568 Microphthalmos IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0000577 Exotropia IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
-MIM:157900 MOEBIUS SYNDROME HP:0000598 Abnormality of the ear IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0001159 Syndactyly IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0001171 Split hand IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0001188 Hand clenching IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
@@ -31,13 +30,12 @@
MIM:157900 MOEBIUS SYNDROME HP:0002370 Poor coordination IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0002880 Respiratory difficulties TAS TAS in infancy MIM:157900 HPO:probinson Feb 17, 2009
-MIM:157900 MOEBIUS SYNDROME HP:0004784 Juvenile gastrointestinal polyposis IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
-MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
+MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones TAS TAS MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0008734 Decreased testicular size IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0008872 Feeding difficulties in infancy IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0008947 Infantile muscular hypotonia IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0009803 Short phalanx of finger IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
-MIM:157900 MOEBIUS SYNDROME HP:0009816 Hypoplasia involving bones of the lower limbs IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
+MIM:157900 MOEBIUS SYNDROME HP:0009816 Lower limb undergrowth IEA IEA MIM:157900 HPO:probinson Feb 17, 2009
MIM:157900 MOEBIUS SYNDROME HP:0000054 Micropenis TAS TAS MIM:157900 HPO:probinson Mar 26, 2012
MIM:157900 MOEBIUS SYNDROME HP:0000347 Micrognathia TAS TAS 64% MIM:157900 HPO:probinson Mar 26, 2012
MIM:157900 MOEBIUS SYNDROME HP:0009466 Radial deviation of finger TAS TAS MIM:157900 HPO:probinson Mar 26, 2012
@@ -48,9 +46,9 @@
MIM:157900 MOEBIUS SYNDROME HP:0000316 Hypertelorism TAS TAS 25% MIM:157900 HPO:probinson Mar 26, 2012
MIM:157900 MOEBIUS SYNDROME HP:0000164 Abnormality of the teeth TAS TAS 37% MIM:157900 HPO:probinson Mar 26, 2012
MIM:157900 MOEBIUS SYNDROME HP:0000193 Bifid uvula TAS TAS 11% MIM:157900 HPO:probinson Mar 26, 2012
-MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones IEA IEA MIM:157900 HPO:probinson Mar 26, 2012
MIM:157900 MOEBIUS SYNDROME HP:0000750 Delayed speech and language development TAS TAS 55% MIM:157900 HPO:probinson Mar 26, 2012
OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0012385 Camptodactyly TAS TAS MIM:157900 HPO:skoehler Oct 22, 2013
-OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE OMIM:157900 HPO:skoehler 28.01.2014
-OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:157900 HPO:skoehler 21.09.2014
-OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:157900 HPO:skoehler 26.11.2014
+OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE OMIM:157900 HPO:skoehler Jan 28, 2014
+OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:157900 HPO:skoehler Sep 21, 2014
+OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:157900 HPO:skoehler Nov 26, 2014
+MIM:157900 MOEBIUS SYNDROME HP:0000377 Abnormality of the pinna TAS TAS MIM:157900 HPO:probinson Mar 29, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175050.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175050.tab 2015-03-28 17:05:28 UTC (rev 5334)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175050.tab 2015-03-29 10:03:51 UTC (rev 5335)
@@ -1,18 +1,17 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0000006 Autosomal dominant inheritance PCS PCS MIM:175050 HPO 17.02.2009
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0001009 Telangiectases PCS PCS 14/20 PMID:15031030 HPO 17.02.2009
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0001217 Clubbing PCS PCS 17/25 PMID:15031030 HPO 17.02.2009
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0001297 Stroke PCS PCS 3/25 PMID:15031030 HPO 17.02.2009
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0002408 Cerebral arteriovenous malformation PCS PCS 3/25 PMID:15031030 HPO 17.02.2009
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0004784 juvenile gastrointestinal polyposis PCS PCS 100% MIM:175050 HPO 17.02.2009
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0006548 Pulmonary arteriovenous malformation PCS PCS 18/25 PMID:15031030 HPO 17.02.2009
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0000421 Epistaxis PCS PCS 10/16 PMID:15031030 HPO 08.07.2010
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0006574 Hepatic arteriovenous malformation PCS PCS 6/25 PMID:15031030 HPO 08.07.2010
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0004784 juvenile gastrointestinal polyposis PCS PCS 100% MIM:175050 HPO 08.07.2010
-MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0002672 Gastrointestinal carcinoma PCS PCS 5/20 PMID:15031030 HPO 08.07.2010
-OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0001903 Anemia IEA IEA OMIM-CS:HEMATOLOGY > ANEMIA OMIM:175050 HPO:skoehler 17.10.2012
-OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0001634 Mitral valve prolapse IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > MITRAL VALVE PROLAPSE (1 FAMILY) OMIM:175050 HPO:skoehler 18.11.2012
-OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0001653 Mitral regurgitation IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > MITRAL VALVE REGURGITATION (1 FAMILY) OMIM:175050 HPO:skoehler 18.11.2012
-OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0001724 Aortic dilatation IEA IEA rare OMIM-CS:CARDIOVASCULAR_VASCULAR > AORTIC DILATATION (1 FAMILY) OMIM:175050 HPO:skoehler 18.11.2012
-OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0002573 Hematochezia IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > RECURRENT RECTAL BLEEDING OMIM:175050 HPO:skoehler 29.05.2013
-OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0004390 Hamartomatous polyps IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > GASTROINTESTINAL HAMARTOMATOUS POLYPS OMIM:175050 HPO:skoehler 11.06.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0000006 Autosomal dominant inheritance PCS PCS MIM:175050 HPO Feb 17, 2009
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0001009 Telangiectasia PCS PCS 14/20 PMID:15031030 HPO Feb 17, 2009
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0001217 Clubbing PCS PCS 17/25 PMID:15031030 HPO Feb 17, 2009
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0001297 Stroke PCS PCS 3/25 PMID:15031030 HPO Feb 17, 2009
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0002408 Cerebral arteriovenous malformation PCS PCS 3/25 PMID:15031030 HPO Feb 17, 2009
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0004784 Juvenile gastrointestinal polyposis PCS PCS 100% MIM:175050 HPO Feb 17, 2009
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0006548 Pulmonary arteriovenous malformation PCS PCS 18/25 PMID:15031030 HPO Feb 17, 2009
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0000421 Epistaxis PCS PCS 10/16 PMID:15031030 HPO Jul 8, 2010
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0006574 Hepatic arteriovenous malformation PCS PCS 6/25 PMID:15031030 HPO Jul 8, 2010
+MIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME JPHT JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA JPS/HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION MIM:600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4 SMA- AND MAD-RELATED PROTEIN 4 DELETED IN PANCREATIC CARCINOMA 4 MIM:600993 / wt SMAD4 HP:0002672 Gastrointestinal carcinoma PCS PCS 5/20 PMID:15031030 HPO Jul 8, 2010
+OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0001903 Anemia TAS TAS OMIM-CS:HEMATOLOGY > ANEMIA OMIM:175050 HPO:skoehler Oct 17, 2012
+OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0001634 Mitral valve prolapse TAS TAS rare OMIM-CS:CARDIOVASCULAR_HEART > MITRAL VALVE PROLAPSE (1 FAMILY) OMIM:175050 HPO:skoehler Nov 18, 2012
+OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0001653 Mitral regurgitation TAS TAS rare OMIM-CS:CARDIOVASCULAR_HEART > MITRAL VALVE REGURGITATION (1 FAMILY) OMIM:175050 HPO:skoehler Nov 18, 2012
+OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0001724 Aortic dilatation TAS TAS rare OMIM-CS:CARDIOVASCULAR_VASCULAR > AORTIC DILATATION (1 FAMILY) OMIM:175050 HPO:skoehler Nov 18, 2012
+OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0002573 Hematochezia TAS TAS OMIM-CS:ABDOMEN_GASTROINTESTINAL > RECURRENT RECTAL BLEEDING OMIM:175050 HPO:skoehler May 29, 2013
+OMIM:175050 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION HP:0004390 Hamartomatous polyps TAS TAS OMIM-CS:ABDOMEN_GASTROINTESTINAL > GASTROINTESTINAL HAMARTOMATOUS POLYPS OMIM:175050 HPO:skoehler Jun 11, 2013
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613791.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613791.tab 2015-03-28 17:05:28 UTC (rev 5334)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613791.tab 2015-03-29 10:03:51 UTC (rev 5335)
@@ -1,6 +1,6 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-613791 MASP2 DEFICIENCY HP:0000006 Autosomal dominant inheritance PCS PCS pmid:12904520 HPO:probinson Mar 28, 2015
-613791 MASP2 DEFICIENCY HP:0100279 Ulcerative colitis PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
-613791 MASP2 DEFICIENCY HP:0002725 Systemic lupus erythematosus PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
-613791 MASP2 DEFICIENCY HP:0006532 Recurrent pneumonia PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
-613791 MASP2 DEFICIENCY HP:0004431 Complement deficiency PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
+OMIM:613791 MASP2 DEFICIENCY HP:0000006 Autosomal dominant inheritance PCS PCS pmid:12904520 HPO:probinson Mar 28, 2015
+OMIM:613791 MASP2 DEFICIENCY HP:0100279 Ulcerative colitis PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
+OMIM:613791 MASP2 DEFICIENCY HP:0002725 Systemic lupus erythematosus PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
+OMIM:613791 MASP2 DEFICIENCY HP:0006532 Recurrent pneumonia PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
+OMIM:613791 MASP2 DEFICIENCY HP:0004431 Complement deficiency PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
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From: <pr...@us...> - 2015-03-28 17:05:36
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Revision: 5334
http://sourceforge.net/p/obo/svn/5334
Author: probins
Date: 2015-03-28 17:05:28 +0000 (Sat, 28 Mar 2015)
Log Message:
-----------
New annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228980.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603546.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606170.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615593.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615897.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616117.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209900.tab 2015-03-28 09:35:03 UTC (rev 5333)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-209900.tab 2015-03-28 17:05:28 UTC (rev 5334)
@@ -14,35 +14,35 @@
OMIM:209900 BARDET-BIEDL SYNDROME HP:0000510 Retinitis pigmentosa IEA IEA 8.0000 % OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0000518 Cataract IEA IEA 30.0000 % OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0000545 Myopia IEA IEA 75.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0000556 Retinal dystrophy IEA IEA 100.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0000639 Nystagmus IEA IEA 52.0000 % OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0000556 Retinal dystrophy IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0000639 Nystagmus IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0000668 Hypodontia IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0000678 Dental crowding IEA IEA OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0000750 Delayed speech and language development IEA IEA 77.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0000819 Diabetes mellitus IEA IEA 7.5000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0000822 Hypertension IEA IEA 60.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001007 Hirsutism IEA IEA 7.5000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001080 Biliary tract abnormality IEA IEA 7.5000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001156 Brachydactyly syndrome IEA IEA 50.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001159 Syndactyly IEA IEA 25.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001162 Postaxial polydactyly (hands) IEA IEA 58.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001249 Intellectual disability IEA IEA 25.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001251 Ataxia IEA IEA 7.5000 % OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0000750 Delayed speech and language development IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0000819 Diabetes mellitus IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0000822 Hypertension IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001007 Hirsutism IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001080 Biliary tract abnormality IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001156 Brachydactyly syndrome IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001159 Syndactyly IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001162 Postaxial hand polydactyly IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001251 Ataxia IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0001328 Specific learning disability IEA IEA OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001395 Hepatic fibrosis IEA IEA 7.5000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001513 Obesity IEA IEA 83.0000 % OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001395 Hepatic fibrosis IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001513 Obesity IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0001712 Left ventricular hypertrophy IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0001773 Short foot TAS TAS OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0001829 Polydactyly (feet) IEA IEA OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0002099 Asthma IEA IEA 25.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0002141 Gait imbalance IEA IEA 25.0000 % OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0001829 Foot polydactyly IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0002099 Asthma IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0002141 Gait imbalance IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0002167 Neurological speech impairment IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0002251 Aganglionic megacolon IEA IEA OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0002370 Poor coordination IEA IEA 25.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0007707 Congenital primary aphakia IEA IEA 30.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0008734 Decreased testicular size IEA IEA 88.0000 % OMIM:209900 HPO Feb 17, 2009
-OMIM:209900 BARDET-BIEDL SYNDROME HP:0009466 Radial deviation of finger IEA IEA 7.5000 % OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0002370 Poor coordination IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0007707 Congenital primary aphakia IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0008734 Decreased testicular size IEA IEA OMIM:209900 HPO Feb 17, 2009
+OMIM:209900 BARDET-BIEDL SYNDROME HP:0009466 Radial deviation of finger IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 BARDET-BIEDL SYNDROME HP:0009806 Nephrogenic diabetes insipidus IEA IEA OMIM:209900 HPO Feb 17, 2009
OMIM:209900 #209900 BARDET-BIEDL SYNDROME; BBSBARDET-BIEDL SYNDROME 1, INCLUDED; BBS1, INCLUDED;;BARDET-BIEDL SYNDROME 2, INCLUDED; BBS2, INCLUDED;;BARDET-BIEDL SYNDROME 3, INCLUDED; BBS3, INCLUDED;;BARDET-BIEDL SYNDROME 4, INCLUDED; BBS4, INCLUDED;;BARDET-BIEDL SYNDROME 5, INCLUDED; BBS5, INCLUDED;;BARDET-BIEDL SYNDROME 6, INCLUDED; BBS6, INCLUDED;;BARDET-BIEDL SYNDROME 7, INCLUDED; BBS7, INCLUDED;;BARDET-BIEDL SYNDROME 8, INCLUDED; BBS8, INCLUDED;;BARDET-BIEDL SYNDROME 9, INCLUDED; BBS9, INCLUDED;;BARDET-BIEDL SYNDROME 10, INCLUDED; BBS10, INCLUDED;;BARDET-BIEDL SYNDROME 11, INCLUDED; BBS11, INCLUDED;;BARDET-BIEDL SYNDROME 12, INCLUDED; BBS12, INCLUDED;;BARDET-BIEDL SYNDROME 13, INCLUDED; BBS13, INCLUDED;;BARDET-BIEDL SYNDROME 14, INCLUDED; BBS14, INCLUDED;;BARDET-BIEDL SYNDROME 15, INCLUDED; BBS15, INCLUDED HP:0001263 Global developmental delay TAS TAS OMIM:209900 HPO:skoehler Oct 17, 2012
OMIM:209900 BARDET-BIEDL SYNDROME HP:0001769 Broad foot TAS TAS OMIM:209900 HPO Apr 8, 2013
-OMIM:209900 #209900 BARDET-BIEDL SYNDROME 1; BBS1 HP:0000546 Retinal degeneration IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION OMIM:209900 HPO:skoehler 26.11.2014
+OMIM:209900 #209900 BARDET-BIEDL SYNDROME 1; BBS1 HP:0000546 Retinal degeneration IEA IEA OMIM-CS:HEAD AND NECK_EYES > RETINAL DEGENERATION OMIM:209900 HPO:skoehler Nov 26, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228980.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228980.tab 2015-03-28 09:35:03 UTC (rev 5333)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-228980.tab 2015-03-28 17:05:28 UTC (rev 5334)
@@ -1,5 +1,5 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:228980 FLECK RETINA, FAMILIAL BENIGN HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:228980 HPO 17.02.2009
-OMIM:228980 FLECK RETINA, FAMILIAL BENIGN HP:0000478 Abnormality of the eye IEA IEA OMIM:228980 HPO 17.02.2009
-OMIM:228980 FLECK RETINA, FAMILIAL BENIGN HP:0000662 Night blindness IEA IEA NOT NOT OMIM:228980 HPO:skoehler 18.06.2010
-OMIM:228980 #228980 FLECK RETINA, FAMILIAL BENIGN; FRFB HP:0000662 Night blindness IEA IEA NOT NOT OMIM-CS:EYES > NO NIGHT BLINDNESS OMIM:228980 HPO:skoehler 30.05.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:228980 FLECK RETINA, FAMILIAL BENIGN HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:228980 HPO Feb 17, 2009
+OMIM:228980 FLECK RETINA, FAMILIAL BENIGN HP:0012045 Retinal flecks TAS TAS OMIM:228980 HPO Feb 17, 2009
+OMIM:228980 #228980 FLECK RETINA, FAMILIAL BENIGN; FRFB HP:0000662 Night blindness TAS TAS NOT NOT OMIM-CS:EYES > NO NIGHT BLINDNESS OMIM:228980 HPO:skoehler May 30, 2013
+OMIM:228980 #228980 FLECK RETINA, FAMILIAL BENIGN; FRFB HP:0000505 Visual impairment TAS TAS NOT NOT OMIM:228980 HPO:skoehler Mar 28, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603546.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603546.tab 2015-03-28 09:35:03 UTC (rev 5333)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603546.tab 2015-03-28 17:05:28 UTC (rev 5334)
@@ -5,7 +5,7 @@
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0003090 Hypoplasia of the capital femoral epiphysis TAS TAS OMIM:603546 HPO:probinson May 26, 2012
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0003071 Flattened epiphyses TAS TAS OMIM:603546 HPO:probinson Jun 18, 2012
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0010585 Small epiphyses TAS TAS OMIM:603546 HPO:probinson Jun 18, 2012
-OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0010582 Irregular epiphyses TAS TAS OMIM:603546 HPO:probinson Jun 18, 2012
+OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0010582 Irregular epiphyses PCS PCS pmid:12966527 HPO:probinson Jun 18, 2012
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0003301 Irregular vertebral endplates TAS TAS OMIM:603546 HPO:probinson Apr 12, 2013
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0001388 Joint laxity TAS TAS OMIM:603546 HPO:probinson Apr 12, 2013
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0005008 Large joint dislocations TAS TAS OMIM:603546 HPO:probinson Apr 12, 2013
@@ -23,9 +23,9 @@
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0002857 Genu valgum IEA IEA OMIM:603546 HPO:probinson Apr 12, 2013
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0000272 Malar flattening IEA IEA OMIM:603546 HPO:probinson Apr 12, 2013
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0001252 Muscular hypotonia IEA IEA OMIM:603546 HPO:probinson Apr 12, 2013
-OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0005121 Posterior scalloping of vertebral bodies IEA IEA OMIM:603546 HPO:probinson Apr 12, 2013
+OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0005121 Posterior scalloping of vertebral bodies TAS TAS OMIM:603546 HPO:probinson Apr 12, 2013
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0002650 Scoliosis IEA IEA OMIM:603546 HPO:probinson Apr 12, 2013
-OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0006454 Severely delayed patellae ossification TAS TAS Severe OMIM:603546 HPO:probinson Apr 12, 2013
+OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0006454 Delayed patellar ossification TAS TAS Severe OMIM:603546 HPO:probinson Apr 12, 2013
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0004322 Short stature IEA IEA OMIM:603546 HPO:probinson Apr 12, 2013
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0000977 Soft skin TAS TAS OMIM:603546 HPO:skoehler Apr 12, 2013
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0002651 Spondyloepimetaphyseal dysplasia IEA IEA OMIM:603546 HPO:probinson Apr 12, 2013
@@ -33,4 +33,4 @@
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS HP:0010301 Spinal dysraphism IEA IEA OMIM:603546 HPO:skoehler Apr 12, 2013
OMIM:603546 #603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE HP:0008819 Narrow femoral neck TAS TAS OMIM:603546 HPO:skoehler May 31, 2013
OMIM:603546 #603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE HP:0011800 Midface retrusion TAS TAS OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:603546 HPO:skoehler Nov 28, 2013
-OMIM:603546 #603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE HP:0001058 Poor wound healing IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL WOUND HEALING OMIM:603546 HPO:skoehler 27.11.2014
+OMIM:603546 #603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE HP:0001058 Poor wound healing IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL WOUND HEALING OMIM:603546 HPO:skoehler Nov 27, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606170.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606170.tab 2015-03-28 09:35:03 UTC (rev 5333)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606170.tab 2015-03-28 17:05:28 UTC (rev 5334)
@@ -38,5 +38,5 @@
OMIM:606170 GENITOPATELLAR SYNDROME HP:0008823 Hypoplastic inferior pubic rami IEA IEA OMIM:606170 HPO Feb 17, 2009
OMIM:606170 GENITOPATELLAR SYNDROME HP:0009803 Short phalanx of finger IEA IEA OMIM:606170 HPO Feb 17, 2009
OMIM:606170 #606170 GENITOPATELLAR SYNDROME; GTPTS;;ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM,AND MENTAL RETARDATION HP:0001263 Global developmental delay TAS TAS OMIM:606170 HPO:skoehler Oct 17, 2012
-OMIM:606170 #606170 GENITOPATELLAR SYNDROME; GTPTS;;ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM,AND MENTAL RETARDATION HP:0030048 Colpocephaly IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COLPOCEPHALY OMIM:606170 HPO:skoehler 21.09.2014
-OMIM:606170 #606170 GENITOPATELLAR SYNDROME; GTPTS;;ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM,AND MENTAL RETARDATION HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:606170 HPO:skoehler 26.11.2014
+OMIM:606170 #606170 GENITOPATELLAR SYNDROME; GTPTS;;ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM,AND MENTAL RETARDATION HP:0030048 Colpocephaly IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COLPOCEPHALY OMIM:606170 HPO:skoehler Sep 21, 2014
+OMIM:606170 #606170 GENITOPATELLAR SYNDROME; GTPTS;;ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM,AND MENTAL RETARDATION HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:606170 HPO:skoehler Nov 26, 2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615593.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615593.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615593.tab 2015-03-28 17:05:28 UTC (rev 5334)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0000007 Autosomal recessive inheritance PCS PCS pmid:23897980 HPO:probinson Mar 28, 2015
+615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0100726 Kaposi's sarcoma HP:0011463 Childhood onset PCS PCS 3/3 pmid:20156905 HPO:probinson Mar 28, 2015
+615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0001744 Splenomegaly PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
+615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0001876 Pancytopenia PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
+615593 IMMUNODEFICIENCY 16; IMD16 TNFRSF4 HP:0004844 Coombs-positive hemolytic anemia PCS PCS pmid:20156905 HPO:probinson Mar 28, 2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615897.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615897.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615897.tab 2015-03-28 17:05:28 UTC (rev 5334)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0000007 Autosomal recessive inheritance PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0005364 Severe viral infections PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0001888 Lymphopenia PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0008348 Immunoglobulin IgG2 deficiency PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
+615897 IMMUNODEFICIENCY 24; IMD24 CTPS1 HP:0030253 Defective T cell proliferation PCS PCS pmid:24870241 HPO:probinson Mar 28, 2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616117.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616117.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-616117.tab 2015-03-28 17:05:28 UTC (rev 5334)
@@ -0,0 +1,5 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0000006 Autosomal dominant inheritance pmid:24925317 HPO:probinson Mar 28, 2015
+616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0001644 Dilated cardiomyopathy pmid:24925317 HPO:probinson Mar 28, 2015
+616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0001692 Primary atrial arrhythmia pmid:24925317 HPO:probinson Mar 28, 2015
+616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; TNNI3K HP:0011711 Left anterior fascicular block pmid:24925317 HPO:probinson Mar 28, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
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From: <pr...@us...> - 2015-03-28 07:31:55
|
Revision: 5332
http://sourceforge.net/p/obo/svn/5332
Author: probins
Date: 2015-03-28 07:31:48 +0000 (Sat, 28 Mar 2015)
Log Message:
-----------
New disease entries
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-111700.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613791.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615074.tab
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-111700.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-111700.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-111700.tab 2015-03-28 07:31:48 UTC (rev 5332)
@@ -0,0 +1,4 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0000007 Autosomal recessive inheritance PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
+111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0004446 Stomatocytosis PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
+111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0004870 Chronic hemolytic anemia PCS PCS Rhnull disease pmid:9657769 HPO:probinson Mar 28, 2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613791.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613791.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613791.tab 2015-03-28 07:31:48 UTC (rev 5332)
@@ -0,0 +1,6 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+613791 MASP2 DEFICIENCY HP:0000006 Autosomal dominant inheritance PCS PCS pmid:12904520 HPO:probinson Mar 28, 2015
+613791 MASP2 DEFICIENCY HP:0100279 Ulcerative colitis PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
+613791 MASP2 DEFICIENCY HP:0002725 Systemic lupus erythematosus PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
+613791 MASP2 DEFICIENCY HP:0006532 Recurrent pneumonia PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
+613791 MASP2 DEFICIENCY HP:0004431 Complement deficiency PCS PCS 1/1 pmid:12904520 HPO:probinson Mar 28, 2015
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615074.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615074.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615074.tab 2015-03-28 07:31:48 UTC (rev 5332)
@@ -0,0 +1,11 @@
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000006 Autosomal dominant inheritance PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0010864 Intellectual disability, severe PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0002463 Language impairment PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000455 Broad nasal tip PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000322 Short philtrum PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0008070 Sparse hair PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000486 Strabismus PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0001263 Global developmental delay PCS PCS 4/4 pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0001319 Neonatal hypotonia PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
+615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 HP:0000748 Inappropriate laughter PCS PCS pmid:23644463 HPO:probinson Mar 28, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-03-22 10:03:30
|
Revision: 5330
http://sourceforge.net/p/obo/svn/5330
Author: probins
Date: 2015-03-22 10:03:17 +0000 (Sun, 22 Mar 2015)
Log Message:
-----------
Revisins for skeletal nosology
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166220.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167100.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-174810.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176670.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190320.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221770.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612840.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123000.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-123000.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,18 +1,19 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000164 Abnormality of the teeth IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000303 Mandibular prognathia IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000410 Mixed hearing impairment IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000925 Abnormality of the vertebral column IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001507 Growth abnormality IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001739 Abnormality of the nasopharynx IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001742 Nasal obstruction leading to mouth breathing IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0002644 Abnormality of the pelvis IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0002694 Sclerosis of skull base IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0003016 Metaphyseal widening IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004407 Bony paranasal bossing IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004975 Erlenmeyer flask deformity of the femurs IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0006384 Club-shaped distal femur IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0010628 Facial palsy IEA IEA OMIM:123000 HPO 17.02.2009
-OMIM:123000 #123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD;;CMD;;CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE; CMDJ HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:123000 HPO:skoehler 17.10.2012
-OMIM:123000 #123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD;;CMD;;CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE; CMDJ HP:0000256 Macrocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY OMIM:123000 HPO:skoehler 17.10.2012
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000303 Mandibular prognathia IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000410 Mixed hearing impairment IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000925 Abnormality of the vertebral column IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001739 Abnormality of the nasopharynx IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001742 Nasal obstruction IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0002694 Sclerosis of skull base TAS TAS OMIM:123000 HPO:probinson Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0003016 Metaphyseal widening TAS TAS OMIM:123000 HPO:probinson Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004407 Bony paranasal bossing IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004975 Erlenmeyer flask deformity of the femurs IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0006384 Club-shaped distal femur IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0010628 Facial palsy IEA IEA OMIM:123000 HPO Feb 17, 2009
+OMIM:123000 #123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD;;CMD;;CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE; CMDJ HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:123000 HPO:skoehler Oct 17, 2012
+OMIM:123000 #123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD;;CMD;;CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE; CMDJ HP:0000256 Macrocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY OMIM:123000 HPO:skoehler Oct 17, 2012
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0005450 Calvarial osteosclerosis TAS TAS OMIM:123000 HPO:probinson Mar 22, 2015
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004322 Short stature TAS TAS NOT NOT OMIM:123000 HPO:probinson Mar 22, 2015
+OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000692 Misalignment of teeth TAS TAS OMIM:123000 HPO:probinson Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126550.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-126550.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,3 +1,5 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:126550 HPO 17.02.2009
-OMIM:126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0000924 Abnormality of the musculoskeletal system IEA IEA OMIM:126550 HPO 17.02.2009
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0000006 Autosomal dominant inheritance PCS PCS pmid:11241496 HPO Feb 17, 2009
+OMIM:126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0003155 Elevated alkaline phosphatase PCS PCS pmid:11241496 HPO Mar 22, 2015
+OMIM:126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0002757 Recurrent fractures PCS PCS pmid:11241496 HPO Mar 22, 2015
+OMIM:126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0000670 Carious teeth PCS PCS pmid:11241496 HPO Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166220.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166220.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166220.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,15 +1,16 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000362 Otosclerosis TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000365 Hearing impairment TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000592 Blue sclerae TAS TAS 10% OMIM:166220 HPO:skoehler 20.06.2010
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000703 Dentinogenesis imperfecta TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002645 Wormian bones TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002650 Scoliosis TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002659 Increased susceptibility to fractures TAS TAS OMIM:166220 HPO:probinson 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002757 Recurrent fractures TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002808 Kyphosis TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0003023 Bowing of limbs due to multiple fractures TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0003321 Biconcave flattened vertebrae TAS TAS OMIM:166220 HPO 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0004322 Short stature HP:0003593 Infantile onset TAS TAS OMIM:166220 HPO:probinson 17.02.2009
-OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0005005 Femoral bowing present at birth, straightening with time TAS TAS OMIM:166220 HPO 17.02.2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000362 Otosclerosis TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000365 Hearing impairment TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000592 Blue sclerae TAS TAS 10% OMIM:166220 HPO:skoehler Jun 20, 2010
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000703 Dentinogenesis imperfecta TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002645 Wormian bones TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002650 Scoliosis TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002659 Increased susceptibility to fractures TAS TAS OMIM:166220 HPO:probinson Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002757 Recurrent fractures TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002808 Kyphosis TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0003023 Bowing of limbs due to multiple fractures TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0003321 Biconcave flattened vertebrae TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0004322 Short stature HP:0003593 Infantile onset TAS TAS OMIM:166220 HPO:probinson Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0005005 Femoral bowing present at birth, straightening with time TAS TAS OMIM:166220 HPO Feb 17, 2009
+OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0004349 Reduced bone mineral density PCS PCS pmid:19533842 HPO:probinson Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167100.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167100.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-167100.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,7 +1,8 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:167100 HPO 17.02.2009
-OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0000508 Ptosis IEA IEA occasional OMIM:167100 HPO:skoehler 20.06.2010
-OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0000975 Hyperhidrosis IEA IEA OMIM:167100 HPO 17.02.2009
-OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0001217 Clubbing IEA IEA OMIM:167100 HPO 17.02.2009
-OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0010541 Cutis gyrata of scalp IEA IEA OMIM:167100 HPO:skoehler 20.06.2010
-OMIM:167100 %167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; PHOAD;;PHO, AUTOSOMAL DOMINANT;;PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT;;PDP, AUTOSOMAL DOMINANT HP:0100759 Clubbing of fingers IEA IEA OMIM-CS:LIMBS > FINGER CLUBBING OMIM:167100 HPO:skoehler 17.10.2012
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:167100 HPO:probinson Feb 17, 2009
+OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0000508 Ptosis TAS TAS occasional OMIM:167100 HPO:skoehler Jun 20, 2010
+OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0000975 Hyperhidrosis TAS TAS OMIM:167100 HPO:probinson Feb 17, 2009
+OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0010541 Cutis gyrata of scalp TAS TAS OMIM:167100 HPO:skoehler Jun 20, 2010
+OMIM:167100 %167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; PHOAD;;PHO, AUTOSOMAL DOMINANT;;PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT;;PDP, AUTOSOMAL DOMINANT HP:0100759 Clubbing of fingers TAS TAS OMIM-CS:LIMBS > FINGER CLUBBING OMIM:167100 HPO:skoehler Oct 17, 2012
+OMIM:167100 %167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; PHOAD;;PHO, AUTOSOMAL DOMINANT;;PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT;;PDP, AUTOSOMAL DOMINANT HP:0006465 Periosteal thickening of long tubular bones TAS TAS OMIM:167100 HPO:probinson Mar 22, 2015
+OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT HP:0001072 Thickened skin TAS TAS OMIM:167100 HPO:probinson Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-174810.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-174810.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-174810.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,7 +1,10 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:174810 HPO Feb 17, 2009
-OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0000164 Abnormality of the teeth IEA IEA OMIM:174810 HPO Feb 17, 2009
-OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0000405 Conductive hearing impairment TAS TAS OMIM:174810 HPO Feb 17, 2009
-OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0002653 Bone pain IEA IEA OMIM:174810 HPO:skoehler Jun 20, 2010
-OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0002756 Pathologic fracture IEA IEA OMIM:174810 HPO Feb 17, 2009
-OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0003080 Hydroxyprolinuria IEA IEA OMIM:174810 HPO Feb 17, 2009
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:174810 HPO:probinson Feb 17, 2009
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0000405 Conductive hearing impairment TAS TAS OMIM:174810 HPO:probinson Feb 17, 2009
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0002653 Bone pain TAS TAS OMIM:174810 HPO:skoehler Jun 20, 2010
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0002756 Pathologic fracture TAS TAS OMIM:174810 HPO:probinson Feb 17, 2009
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0003080 Hydroxyprolinuria TAS TAS OMIM:174810 HPO:probinson Feb 17, 2009
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0006480 Premature loss of teeth TAS TAS OMIM:174810 HPO:probinson Mar 22, 2015
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0003155 Elevated alkaline phosphatase TAS TAS OMIM:174810 HPO:probinson Mar 22, 2015
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0002753 Thin bony cortex TAS TAS Late stage OMIM:174810 HPO:probinson Mar 22, 2015
+OMIM:174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE HP:0002797 Osteolysis TAS TAS OMIM:174810 HPO:probinson Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176670.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176670.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176670.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,14 +1,15 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0000272 Malar hypoplasia IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0000347 Micrognathia IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001510 Growth delay IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001596 Alopecia IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001635 Congestive heart failure IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001658 Myocardial infarction IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001681 Angina pectoris IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0004416 Precocious atherosclerosis IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0005181 Premature coronary artery disease IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0005744 Generalized osteoporosis with pathologic fractures IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0007485 Absence of subcutaneous fat IEA IEA OMIM:176670 HPO 17.02.2009
-OMIM:176670 #176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS;;PROGERIAPROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:176670 HPO:skoehler 28.11.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0000272 Malar flattening IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0000347 Micrognathia IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001510 Growth delay IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001596 Alopecia IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001635 Congestive heart failure IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001658 Myocardial infarction IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0001681 Angina pectoris IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0004416 Precocious atherosclerosis IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0005181 Premature coronary artery disease IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0005744 Generalized osteoporosis with pathologic fractures IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0007485 Absence of subcutaneous fat IEA IEA OMIM:176670 HPO Feb 17, 2009
+OMIM:176670 #176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS;;PROGERIAPROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:176670 HPO:skoehler Nov 28, 2013
+OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME HP:0002797 Osteolysis PCS PCS pmid:16838330 HPO Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190320.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190320.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190320.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,10 +1,11 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:190320 HPO Feb 17, 2009
-OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000268 Dolichocephaly IEA IEA OMIM:190320 HPO Feb 17, 2009
-OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000679 Taurodontia IEA IEA OMIM:190320 HPO Feb 17, 2009
+OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:190320 HPO Feb 17, 2009
+OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000268 Dolichocephaly TAS TAS OMIM:190320 HPO Feb 17, 2009
+OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000679 Taurodontia TAS TAS OMIM:190320 HPO Feb 17, 2009
OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0001595 Abnormality of the hair IEA IEA OMIM:190320 HPO Feb 17, 2009
OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0001808 Fragile nails IEA IEA OMIM:190320 HPO Feb 17, 2009
-OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0002007 Frontal bossing IEA IEA OMIM:190320 HPO Feb 17, 2009
-OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0011001 Increased bone mineral density IEA IEA OMIM:190320 HPO Feb 17, 2009
+OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0002007 Frontal bossing TAS TAS OMIM:190320 HPO Feb 17, 2009
+OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0011001 Increased bone mineral density TAS TAS OMIM:190320 HPO Feb 17, 2009
OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000687 Widely spaced teeth TAS TAS OMIM:190320 HPO:probinson Apr 9, 2013
OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000691 Microdontia TAS TAS OMIM:190320 HPO:probinson Apr 9, 2013
+OMIM:190320 TRICHODENTOOSSEOUS SYNDROME HP:0000264 Abnormality of the mastoid TAS TAS OMIM:190320 HPO Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221770.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221770.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221770.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,31 +1,32 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000020 Urinary incontinence IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000718 Aggressive behavior IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000727 Frontal lobe dementia IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000734 Disinhibition IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000751 Personality changes IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000757 Lack of insight IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001155 Abnormality of the hand IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001250 Seizures IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001257 Spasticity IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001288 Gait disturbance IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001336 Myoclonus IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001760 Abnormality of the foot IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002059 Cerebral atrophy IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002127 Upper motor neuron abnormality IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002135 Basal ganglia calcification IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002167 Neurological speech impairment IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002171 Gliosis IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002186 Apraxia IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002319 Thin corpus callosum IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002340 Caudate atrophy IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002352 Leukoencephalopathy IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002353 EEG abnormality IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002354 Memory impairment IEA IEA OMIM:221770 HPO:skoehler 20.06.2010
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002476 Primitive reflexes (palmomental, snout, glabellar) IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002756 Pathologic fracture IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0003447 Axonal loss IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0003487 Babinski sign IEA IEA OMIM:221770 HPO 17.02.2009
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0010524 Agnosia IEA IEA OMIM:221770 HPO:skoehler 18.06.2010
-OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0011096 Peripheral demyelination IEA IEA OMIM:221770 HPO 17.02.2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:221770 HPO:probinson Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000020 Urinary incontinence IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000718 Aggressive behavior IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000727 Frontal lobe dementia IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000734 Disinhibition IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000751 Personality changes IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0000757 Lack of insight IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001155 Abnormality of the hand IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001250 Seizures IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001257 Spasticity IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001288 Gait disturbance IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001336 Myoclonus IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0001760 Abnormality of the foot IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002059 Cerebral atrophy IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002127 Abnormal upper motor neuron morphology IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002135 Basal ganglia calcification IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002167 Neurological speech impairment IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002171 Gliosis IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002186 Apraxia IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002319 Thin corpus callosum IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002340 Caudate atrophy IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002352 Leukoencephalopathy IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002353 EEG abnormality IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002354 Memory impairment IEA IEA OMIM:221770 HPO:skoehler Jun 20, 2010
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002476 Primitive reflexes (palmomental, snout, glabellar) IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0002756 Pathologic fracture TAS TAS OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0003447 Axonal loss IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0003487 Babinski sign IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0010524 Agnosia IEA IEA OMIM:221770 HPO:skoehler Jun 18, 2010
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0011096 Peripheral demyelination IEA IEA OMIM:221770 HPO Feb 17, 2009
+OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY HP:0012062 Bone cyst TAS TAS OMIM:221770 HPO:probinson Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,41 +1,46 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000156 High-arched palate IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000156 High-arched palate TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0000242 Parietal bossing IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000311 Round face IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000311 Round face TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0000347 Micrognathia IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000365 Hearing impairment IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000618 Blindness IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000648 Optic atrophy IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000677 Oligodontia IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000684 Delayed eruption of teeth IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000695 Natal tooth IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000774 Narrow chest IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000926 Platyspondyly IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000938 Osteopenia IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000951 Abnormality of the skin IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000365 Hearing impairment TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000618 Blindness TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000648 Optic atrophy TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000677 Oligodontia TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000684 Delayed eruption of teeth TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000695 Natal tooth TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000774 Narrow chest TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000926 Platyspondyly TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000938 Osteopenia TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0004334 Dermal atrophy TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0004054 Sclerosis of hand bone IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001249 Intellectual disability IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001250 Seizures IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001474 Sclerotic scapulae IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001476 Delayed closure of the anterior fontanelle IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002007 Frontal bossing IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002376 Developmental regression IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0001249 Intellectual disability TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0001250 Seizures TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0001474 Sclerotic scapulae TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0001476 Delayed closure of the anterior fontanelle TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002007 Frontal bossing TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002376 Developmental regression TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0002659 Increased susceptibility to fractures IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002689 Absent paranasal sinuses IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0008479 Hypoplastic vertebral bodies TAS TAS OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002689 Absent paranasal sinuses TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0008479 Hypoplastic vertebral bodies TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0002868 Narrow iliac wings IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002870 Obstructive sleep apnea IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0003015 Flared metaphyses IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002870 Obstructive sleep apnea TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0003015 Flared metaphyses TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
OMIM:224300 DYSOSTEOSCLEROSIS HP:0003301 Irregular vertebral endplates IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0003498 Disproportionate short stature IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0004459 Exostosis of the external auditory canal IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0005089 Abnormal metaphyseal trabeculation IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0005452 Obliteration of frontal sinuses IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0006383 Progressive bowing of long bones IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0006429 Broad femoral neck IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0006480 Premature loss of teeth IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0010628 Facial palsy IEA IEA OMIM:224300 HPO Feb 17, 2009
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011349 Abducens palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > ABDUCENS PALSY OMIM:224300 HPO:skoehler Oct 17, 2012
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:224300 HPO:skoehler Oct 17, 2012
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0007209 Facial paralysis IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL PARALYSIS OMIM:224300 HPO:skoehler Oct 22, 2013
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0003498 Disproportionate short stature TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0005089 Abnormal metaphyseal trabeculation TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0005452 Obliteration of frontal sinuses TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0006383 Progressive bowing of long bones TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0006429 Broad femoral neck TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0006480 Premature loss of teeth TAS TAS OMIM:224300 HPO:probinson Feb 17, 2009
+OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011349 Abducens palsy TAS TAS OMIM-CS:HEAD AND NECK_FACE > ABDUCENS PALSY OMIM:224300 HPO:skoehler Oct 17, 2012
+OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011220 Prominent forehead TAS TAS OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:224300 HPO:skoehler Oct 17, 2012
+OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0007209 Facial paralysis TAS TAS OMIM-CS:HEAD AND NECK_FACE > FACIAL PARALYSIS OMIM:224300 HPO:skoehler Oct 22, 2013
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000773 Short ribs TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000885 Broad ribs TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0100923 Clavicular sclerosis TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000879 Short sternum TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002694 Sclerosis of skull base TAS TAS OMIM:224300 HPO Mar 22, 2015
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0005019 Diaphyseal thickening TAS TAS OMIM:224300 HPO:probinson Mar 22, 2015
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000941 Short diaphyses TAS TAS OMIM:224300 HPO Mar 22, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259710.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259710.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-259710.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,24 +1,23 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000303 Mandibular prognathia IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000618 Blindness IEA IEA OMIM:259710 HPO:skoehler Jun 20, 2010
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000648 Optic atrophy IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000670 Carious teeth IEA IEA OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000303 Mandibular prognathia TAS TAS OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000618 Blindness TAS TAS OMIM:259710 HPO:skoehler Jun 20, 2010
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000648 Optic atrophy TAS TAS OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0000670 Carious teeth TAS TAS OMIM:259710 HPO Feb 17, 2009
OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0001293 Cranial nerve compression TAS TAS OMIM:259710 HPO:skoehler Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0001433 Hepatosplenomegaly IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0001876 Pancytopenia IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0001978 Extramedullary hematopoiesis IEA IEA OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0001433 Hepatosplenomegaly TAS TAS OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0001876 Pancytopenia TAS TAS OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0001978 Extramedullary hematopoiesis TAS TAS OMIM:259710 HPO Feb 17, 2009
OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0002754 Osteomyelitis TAS TAS OMIM:259710 HPO:skoehler Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0002757 Recurrent fractures IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0002857 Genu valgum IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0003034 Diaphyseal sclerosis IEA IEA OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0002757 Recurrent fractures TAS TAS OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0002857 Genu valgum TAS TAS OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0003034 Diaphyseal sclerosis TAS TAS OMIM:259710 HPO Feb 17, 2009
OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0004437 Cranial hyperostosis IEA IEA OMIM:259710 HPO Feb 17, 2009
OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0004499 Chronic rhinitis due to narrow nasal airway IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0006335 Persistence of primary teeth IEA IEA OMIM:259710 HPO Feb 17, 2009
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0007209 Facial paralysis IEA IEA OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0006335 Persistence of primary teeth TAS TAS OMIM:259710 HPO Feb 17, 2009
+OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0007209 Facial paralysis TAS TAS OMIM:259710 HPO Feb 17, 2009
OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0007626 Mandibular osteomyelitis TAS TAS OMIM:259710 HPO:skoehler Feb 17, 2009
OMIM:259710 #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2;;OSTEOPETROSIS, OSTEOCLAST-POOR;;OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM HP:0001903 Anemia TAS TAS OMIM:259710 HPO:skoehler Oct 17, 2012
-OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 HP:0002754 Osteomyelitis TAS TAS OMIM:259710 HPO:skoehler Feb 17, 2009
-OMIM:259710 #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2;;OSTEOPETROSIS, OSTEOCLAST-POOR;;OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM HP:0001873 Thrombocytopenia IEA IEA OMIM-CS:HEME > THROMBOCYTOPENIA OMIM:259710 HPO:skoehler 28.01.2014
-OMIM:259710 #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2;;OSTEOPETROSIS, OSTEOCLAST-POOR;;OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:NEURO > NORMAL INTELLIGENCE OMIM:259710 HPO:skoehler 26.11.2014
-OMIM:259710 #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2;;OSTEOPETROSIS, OSTEOCLAST-POOR;;OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM HP:0011002 Osteopetrosis IEA IEA Disease name contained:#259710 osteopetrosis, autosomal recessiv OMIM:259710 HPO:skoehler 27.01.2015
+OMIM:259710 #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2;;OSTEOPETROSIS, OSTEOCLAST-POOR;;OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM HP:0001873 Thrombocytopenia TAS TAS OMIM-CS:HEME > THROMBOCYTOPENIA OMIM:259710 HPO:skoehler Jan 28, 2014
+OMIM:259710 #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2;;OSTEOPETROSIS, OSTEOCLAST-POOR;;OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM HP:0001249 Intellectual disability TAS TAS NOT NOT OMIM-CS:NEURO > NORMAL INTELLIGENCE OMIM:259710 HPO:skoehler Nov 26, 2014
+OMIM:259710 #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2;;OSTEOPETROSIS, OSTEOCLAST-POOR;;OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM HP:0011002 Osteopetrosis TAS TAS Disease name contained:#259710 osteopetrosis, autosomal recessiv OMIM:259710 HPO:skoehler Jan 27, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab 2015-03-21 15:55:14 UTC (rev 5329)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300373.tab 2015-03-22 10:03:17 UTC (rev 5330)
@@ -1,29 +1,29 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000003 Multicystic kidney dysplasia IEA IEA Rare In males OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000156 High-arched palate IEA IEA 15% OMIM:300373 HPO:skoehler Jun 20, 2010
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000175 Cleft palate IEA IEA OMIM:300373 HPO Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000156 High-arched palate TAS TAS 15% OMIM:300373 HPO:skoehler Jun 20, 2010
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000175 Cleft palate TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000179 Thick lower lip vermilion IEA IEA OMIM:300373 HPO:skoehler Jun 20, 2010
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000193 Bifid uvula IEA IEA OMIM:300373 HPO Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000193 Bifid uvula TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000201 Pierre-Robin sequence IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000204 Cleft upper lip IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000238 Hydrocephalus IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000239 Large fontanelles IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000256 Macrocephaly IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000286 Epicanthus IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000316 Hypertelorism IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000341 Narrow forehead IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000347 Micrognathia IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000358 Posteriorly rotated ears IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000369 Low-set ears IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000396 Overfolded helix IEA IEA OMIM:300373 HPO Feb 17, 2009
-OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000405 Conductive hearing impairment IEA IEA OMIM:300373 HPO Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000204 Cleft upper lip TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000238 Hydrocephalus TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000239 Large fontanelles TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000256 Macrocephaly TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000286 Epicanthus TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000316 Hypertelorism TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000341 Narrow forehead TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000347 Micrognathia TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000358 Posteriorly rotated ears TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000369 Low-set ears TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000396 Overfolded helix TAS TAS OMIM:300373 HPO:probinson Feb 17, 2009
+OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0000405 Conduct...
[truncated message content] |
|
From: <pr...@us...> - 2015-03-21 15:55:17
|
Revision: 5329
http://sourceforge.net/p/obo/svn/5329
Author: probins
Date: 2015-03-21 15:55:14 +0000 (Sat, 21 Mar 2015)
Log Message:
-----------
More skeletal annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215045.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251450.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-264180.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215045.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215045.tab 2015-03-21 13:59:17 UTC (rev 5328)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215045.tab 2015-03-21 15:55:14 UTC (rev 5329)
@@ -1,19 +1,19 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000272 Malar flattening TAS TAS Severe OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000347 Micrognathia TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000773 Short ribs TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000925 Abnormality of the vertebral column TAS TAS NOT NOT OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0001561 Polyhydramnios TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0001622 Premature birth TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0001789 Hydrops fetalis TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0002983 Micromelia TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0003015 Flared metaphyses TAS TAS Severe OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0003826 Stillbirth TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0004233 Advanced ossification of carpal bones TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0008108 Advanced tarsal ossification TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0008754 Laryngeal calcifications TAS TAS OMIM:215045 HPO:probinson 17.02.2009
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0003177 Squared iliac bones TAS TAS OMIM:215045 HPO:probinson 30.07.2012
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0005616 Accelerated skeletal maturation TAS TAS OMIM:215045 HPO:probinson 30.07.2012
-OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0005789 Generalized osteosclerosis HP:0003577 Congenital onset TAS TAS OMIM:215045 HPO:probinson 30.07.2012
-OMIM:215045 #215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD HP:0003468 Abnormality of the vertebrae IEA IEA NOT NOT OMIM-CS:SKELETAL_SPINE > NORMAL VERTEBRAE OMIM:215045 HPO:skoehler 04.01.2015
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000272 Malar flattening TAS TAS Severe OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000347 Micrognathia TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000773 Short ribs TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0000925 Abnormality of the vertebral column TAS TAS NOT NOT OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0001561 Polyhydramnios TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0001622 Premature birth TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0001789 Hydrops fetalis TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0002983 Micromelia TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0003015 Flared metaphyses TAS TAS Severe OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0003826 Stillbirth TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0004233 Advanced ossification of carpal bones TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0008108 Advanced tarsal ossification TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0008754 Laryngeal calcification TAS TAS OMIM:215045 HPO:probinson Feb 17, 2009
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0003177 Squared iliac bones TAS TAS OMIM:215045 HPO:probinson Jul 30, 2012
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0005616 Accelerated skeletal maturation TAS TAS OMIM:215045 HPO:probinson Jul 30, 2012
+OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE HP:0005789 Generalized osteosclerosis HP:0003577 Congenital onset TAS TAS OMIM:215045 HPO:probinson Jul 30, 2012
+OMIM:215045 #215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD HP:0003468 Abnormality of the vertebrae IEA IEA NOT NOT OMIM-CS:SKELETAL_SPINE > NORMAL VERTEBRAE OMIM:215045 HPO:skoehler Jan 4, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab 2015-03-21 13:59:17 UTC (rev 5328)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-224300.tab 2015-03-21 15:55:14 UTC (rev 5329)
@@ -1,41 +1,41 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000156 High-arched palate IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000242 Parietal bossing IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000311 Round face IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000347 Micrognathia IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000365 Hearing impairment IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000618 Blindness IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000648 Optic atrophy IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000677 Oligodontia IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000684 Delayed eruption of teeth IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000695 Natal tooth IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000774 Narrow chest IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000926 Platyspondyly IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000938 Osteopenia IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0000951 Abnormality of the skin IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001155 Abnormality of the hand IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001249 Intellectual disability IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001250 Seizures IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001474 Sclerotic scapulae IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0001476 Delayed closure of the anterior fontanelle IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002007 Frontal bossing IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002376 Developmental regression IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002659 Increased susceptibility to fractures IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002689 Absent paranasal sinuses IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002773 Small vertebral bodies IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002868 Narrow iliac wings IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0002870 Obstructive sleep apnea IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0003015 Flared metaphyses IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0003301 Irregular vertebral endplates IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0003498 Disproportionate short stature IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0004459 Exostosis of the external auditory canal IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0005089 Abnormal metaphyseal trabeculation IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0005452 Obliteration of frontal sinuses IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0006383 Progressive bowing of long bones IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0006429 Broad femoral neck IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0006480 Premature loss of teeth IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 DYSOSTEOSCLEROSIS HP:0010628 Facial palsy IEA IEA OMIM:224300 HPO 17.02.2009
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011349 Abducens palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > ABDUCENS PALSY OMIM:224300 HPO:skoehler 17.10.2012
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:224300 HPO:skoehler 17.10.2012
-OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0007209 Facial paralysis IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL PARALYSIS OMIM:224300 HPO:skoehler 22.10.2013
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000156 High-arched palate IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000242 Parietal bossing IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000311 Round face IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000347 Micrognathia IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000365 Hearing impairment IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000618 Blindness IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000648 Optic atrophy IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000677 Oligodontia IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000684 Delayed eruption of teeth IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000695 Natal tooth IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000774 Narrow chest IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000926 Platyspondyly IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000938 Osteopenia IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0000951 Abnormality of the skin IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0004054 Sclerosis of hand bone IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0001249 Intellectual disability IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0001250 Seizures IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0001474 Sclerotic scapulae IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0001476 Delayed closure of the anterior fontanelle IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002007 Frontal bossing IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002376 Developmental regression IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002659 Increased susceptibility to fractures IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002689 Absent paranasal sinuses IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0008479 Hypoplastic vertebral bodies TAS TAS OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002868 Narrow iliac wings IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0002870 Obstructive sleep apnea IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0003015 Flared metaphyses IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0003301 Irregular vertebral endplates IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0003498 Disproportionate short stature IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0004459 Exostosis of the external auditory canal IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0005089 Abnormal metaphyseal trabeculation IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0005452 Obliteration of frontal sinuses IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0006383 Progressive bowing of long bones IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0006429 Broad femoral neck IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0006480 Premature loss of teeth IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 DYSOSTEOSCLEROSIS HP:0010628 Facial palsy IEA IEA OMIM:224300 HPO Feb 17, 2009
+OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011349 Abducens palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > ABDUCENS PALSY OMIM:224300 HPO:skoehler Oct 17, 2012
+OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:224300 HPO:skoehler Oct 17, 2012
+OMIM:224300 %224300 DYSOSTEOSCLEROSIS HP:0007209 Facial paralysis IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL PARALYSIS OMIM:224300 HPO:skoehler Oct 22, 2013
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251450.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251450.tab 2015-03-21 13:59:17 UTC (rev 5328)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-251450.tab 2015-03-21 15:55:14 UTC (rev 5329)
@@ -17,10 +17,10 @@
OMIM:251450 DESBUQUOIS SYNDROME HP:0004233 Advanced ossification of carpal bones TAS TAS OMIM:251450 HPO:probinson Feb 17, 2009
OMIM:251450 DESBUQUOIS SYNDROME HP:0005067 Proximal fibular overgrowth IEA IEA OMIM:251450 HPO Feb 17, 2009
OMIM:251450 DESBUQUOIS SYNDROME HP:0006243 Phalangeal dislocations TAS TAS OMIM:251450 HPO:probinson Feb 17, 2009
-OMIM:251450 DESBUQUOIS SYNDROME HP:0006439 Radioulnar dislocation IEA IEA OMIM:251450 HPO Feb 17, 2009
+OMIM:251450 DESBUQUOIS SYNDROME HP:0006439 Radioulnar dislocation TAS TAS OMIM:251450 HPO:probinson Feb 17, 2009
OMIM:251450 DESBUQUOIS SYNDROME HP:0008082 Medial deviation of the foot IEA IEA OMIM:251450 HPO Feb 17, 2009
OMIM:251450 DESBUQUOIS SYNDROME HP:0008108 Advanced tarsal ossification IEA IEA OMIM:251450 HPO Feb 17, 2009
-OMIM:251450 DESBUQUOIS SYNDROME HP:0008873 Disproportionate short-limb short stature HP:0003577 Congenital onset IEA IEA OMIM:251450 HPO Feb 17, 2009
+OMIM:251450 DESBUQUOIS SYNDROME HP:0008873 Disproportionate short-limb short stature HP:0003577 Congenital onset TAS TAS OMIM:251450 HPO:probinson Feb 17, 2009
OMIM:251450 DESBUQUOIS SYNDROME HP:0009611 Bifid distal phalanx of the thumb IEA IEA OMIM:251450 HPO Feb 17, 2009
OMIM:251450 DESBUQUOIS SYNDROME HP:0009774 Triangular shaped phalanges of the hand IEA IEA OMIM:251450 HPO Feb 17, 2009
OMIM:251450 DESBUQUOIS SYNDROME HP:0010034 Short 1st metacarpal IEA IEA OMIM:251450 HPO Feb 17, 2009
@@ -40,7 +40,7 @@
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:SKELETAL_FEET > CLUB FOOT OMIM:251450 HPO:skoehler Oct 17, 2012
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0001763 Pes planus IEA IEA OMIM-CS:SKELETAL_FEET > PES PLANUS OMIM:251450 HPO:skoehler Oct 17, 2012
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0001852 Sandal gap IEA IEA OMIM-CS:SKELETAL_FEET > SANDAL GAP OMIM:251450 HPO:skoehler Oct 17, 2012
-OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0010743 Short metatarsal bone IEA IEA OMIM-CS:SKELETAL_FEET > SHORT METATARSALS OMIM:251450 HPO:skoehler Oct 17, 2012
+OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0010743 Short metatarsal IEA IEA OMIM-CS:SKELETAL_FEET > SHORT METATARSALS OMIM:251450 HPO:skoehler Oct 17, 2012
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0002970 Genu varum IEA IEA OMIM-CS:SKELETAL_LIMBS > GENU VARUM OMIM:251450 HPO:skoehler Oct 17, 2012
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0000926 Platyspondyly IEA IEA OMIM-CS:SKELETAL_SPINE > PLATYSPONDYLY OMIM:251450 HPO:skoehler Oct 17, 2012
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0003510 Severe short stature HP:0003577 Congenital onset IEA IEA OMIM-CS:GROWTH_HEIGHT > DWARFISM, SHORT-LIMB, PRENATAL ONSET OMIM:251450 HPO:skoehler Nov 21, 2012
@@ -49,6 +49,6 @@
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0002758 Osteoarthritis IEA IEA OMIM-CS:SKELETAL > OSTEOARTHRITIS, PROGRESSIVE OMIM:251450 HPO:skoehler Nov 21, 2012
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0006429 Broad femoral neck IEA IEA OMIM-CS:SKELETAL_PELVIS > SHORT WIDE FEMORAL NECK OMIM:251450 HPO:skoehler Nov 21, 2012
OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0003032 Short femoral neck IEA IEA OMIM-CS:SKELETAL_PELVIS > SHORT WIDE FEMORAL NECK OMIM:251450 HPO:skoehler Nov 22, 2012
-OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0003071 Flattened epiphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > FLAT EPIPHYSES OMIM:251450 HPO:skoehler 18.04.2013
-OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:251450 HPO:skoehler 28.11.2013
-OMIM:251450 #251450 DESBUQUOIS DYSPLASIA 1; DBQD1;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:251450 HPO:skoehler 26.11.2014
+OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0003071 Flattened epiphysis IEA IEA OMIM-CS:SKELETAL_LIMBS > FLAT EPIPHYSES OMIM:251450 HPO:skoehler Apr 18, 2013
+OMIM:251450 #251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:251450 HPO:skoehler Nov 28, 2013
+OMIM:251450 #251450 DESBUQUOIS DYSPLASIA 1; DBQD1;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:251450 HPO:skoehler Nov 26, 2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-264180.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-264180.tab 2015-03-21 13:59:17 UTC (rev 5328)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-264180.tab 2015-03-21 15:55:14 UTC (rev 5329)
@@ -5,9 +5,11 @@
OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0001762 Talipes equinovarus IEA IEA OMIM:264180 HPO:skoehler Jun 20, 2010
OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0002650 Scoliosis IEA IEA OMIM:264180 HPO Feb 17, 2009
OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0002938 Lumbar hyperlordosis IEA IEA OMIM:264180 HPO Feb 17, 2009
-OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0002968 Rhizomelic shortening IEA IEA OMIM:264180 HPO Feb 17, 2009
+OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0008905 Rhizomelia IEA IEA OMIM:264180 HPO Feb 17, 2009
OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0003042 Elbow dislocation TAS TAS OMIM:264180 HPO:probinson Feb 17, 2009
OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0003311 Hypoplasia of the odontoid process IEA IEA OMIM:264180 HPO Feb 17, 2009
OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0005680 Tongue-like lumbar vertebral deformities IEA IEA OMIM:264180 HPO Feb 17, 2009
-OMIM:264180 264180 PSEUDODIASTROPHIC DYSPLASIA HP:0001945 Fever IEA IEA OMIM-CS:MISC > HYPERTHERMIA OMIM:264180 HPO:skoehler 18.04.2013
-OMIM:264180 264180 PSEUDODIASTROPHIC DYSPLASIA HP:0011800 Midface retrusion IEA IEA OMIM-CS:FACIES > MIDFACE HYPOPLASIA OMIM:264180 HPO:skoehler 28.11.2013
+OMIM:264180 264180 PSEUDODIASTROPHIC DYSPLASIA HP:0001945 Fever IEA IEA OMIM-CS:MISC > HYPERTHERMIA OMIM:264180 HPO:skoehler Apr 18, 2013
+OMIM:264180 264180 PSEUDODIASTROPHIC DYSPLASIA HP:0011800 Midface retrusion IEA IEA OMIM-CS:FACIES > MIDFACE HYPOPLASIA OMIM:264180 HPO:skoehler Nov 28, 2013
+OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0006243 Phalangeal dislocations TAS TAS OMIM:264180 HPO:probinson Mar 21, 2015
+OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA HP:0003510 Severe short stature PCS PCS pmid:7923357 HPO Mar 21, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-03-21 13:59:28
|
Revision: 5328
http://sourceforge.net/p/obo/svn/5328
Author: probins
Date: 2015-03-21 13:59:17 +0000 (Sat, 21 Mar 2015)
Log Message:
-----------
New annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210710.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210720.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-244460.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602361.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612921.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614205.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210710.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210710.tab 2015-03-21 10:19:04 UTC (rev 5327)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210710.tab 2015-03-21 13:59:17 UTC (rev 5328)
@@ -1,63 +1,64 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000007 Autosomal recessive inheritance IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000028 Cryptorchidism IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000054 Micropenis IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000089 Renal hypoplasia IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000107 Renal cysts IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000347 Micrognathia IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000237 Small anterior fontanelle IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000252 Microcephaly IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000269 Prominent occiput IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000340 Sloping forehead IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000369 Low-set ears TAS TAS MIM:210710 HPO:probinson 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000377 Abnormality of the pinna IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0008551 Microtia TAS TAS MIM:210710 HPO:probinson 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000461 Large nose TAS TAS MIM:210710 HPO:probinson 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000470 Short neck IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000535 Sparse eyebrow IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000520 Proptosis IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000653 Sparse eyelashes IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000878 11 pairs of ribs IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000890 Long clavicles IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000926 Platyspondyly IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000946 Hypoplastic ilia IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000954 Single transverse palmar crease IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000958 Dry skin IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000962 Hyperkeratosis IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001156 Brachydactyly syndrome IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001176 Large hands IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001249 Intellectual disability IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001250 Seizures IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001274 Agenesis of corpus callosum IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001302 Pachygyria IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001371 Flexion contracture IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0006579 Prolonged neonatal jaundice TAS TAS MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001508 Failure to thrive IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001511 Intrauterine growth retardation IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001562 Oligohydramnios IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001624 Stillbirth IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001631 Defect in the atrial septum IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001636 Tetralogy of Fallot IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001680 Coarctation of aorta IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001833 Large feet IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002282 Heterotopia IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002335 Agenesis of cerebellar vermis IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002750 Delayed skeletal maturation IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002827 Hip dislocation IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002978 Knee contractures IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002987 Elbow flexion contracture IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003014 Short humeri IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003042 Elbow dislocation IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003044 Shoulder flexion contracture IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003051 Enlarged metaphyses IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003273 Hip contracture IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003498 Disproportionate short stature IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0004616 Cleft vertebral arches IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002209 Sparse scalp hair TAS TAS MIM:210710 HPO:probinson 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0006400 Absent knee epiphyses IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0007333 Hypoplasia of the frontal lobes IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0009826 Hypoplasia involving bones of the extremities IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0010049 Short metacarpal IEA IEA MIM:210710 17.02.2009
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003865 Bowed humerus TAS TAS MIM:210710 HPO:probinson 18.07.2012
-MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002980 Femoral bowing TAS TAS MIM:210710 HPO:probinson 18.07.2012
-OMIM:210710 #210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1;;MOPD I; MOPD;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I;;BRACHYMELIC PRIMORDIAL DWARFISM;;TAYBI-LINDER SYNDROME; TALS;;CEPHALOSKELETAL DYSPLASIA;;LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA HP:0005753 Limb shortening IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LIMBS OMIM:210710 HPO:skoehler 17.10.2012
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000007 Autosomal recessive inheritance IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000028 Cryptorchidism IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000054 Micropenis IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000089 Renal hypoplasia IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000107 Renal cyst IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000347 Micrognathia IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000237 Small anterior fontanelle IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000252 Microcephaly IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000269 Prominent occiput IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000340 Sloping forehead IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000369 Low-set ears TAS TAS MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000377 Abnormality of the pinna IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0008551 Microtia TAS TAS MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000461 Large nose TAS TAS MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000470 Short neck IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000535 Sparse eyebrow IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000520 Proptosis IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000653 Sparse eyelashes IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000878 11 pairs of ribs IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000890 Long clavicles IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000926 Platyspondyly IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000946 Hypoplastic ilia IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000954 Single transverse palmar crease IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000958 Dry skin IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0000962 Hyperkeratosis IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001156 Brachydactyly syndrome IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001176 Large hands IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001249 Intellectual disability IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001250 Seizures IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001274 Agenesis of corpus callosum IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001302 Pachygyria IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001371 Flexion contracture IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0006579 Prolonged neonatal jaundice TAS TAS MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001508 Failure to thrive IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001511 Intrauterine growth retardation IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001562 Oligohydramnios IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001624 Stillbirth IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001631 Defect in the atrial septum IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001636 Tetralogy of Fallot IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001680 Coarctation of aorta IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0001833 Long foot IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002282 Heterotopia IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002335 Agenesis of cerebellar vermis IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002750 Delayed skeletal maturation IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002827 Hip dislocation IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002978 Knee contractures IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002987 Elbow flexion contracture IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0005792 Short humerus TAS TAS MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003042 Elbow dislocation IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003044 Shoulder flexion contracture IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003051 Enlarged metaphyses IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003273 Hip contracture IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003498 Disproportionate short stature IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0004616 Cleft vertebral arch IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002209 Sparse scalp hair TAS TAS MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0006400 Absent knee epiphyses IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0007333 Hypoplasia of the frontal lobes IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0009826 Limb undergrowth IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0010049 Short metacarpal IEA IEA MIM:210710 HPO:probinson Feb 17, 2009
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003865 Bowed humerus TAS TAS MIM:210710 HPO:probinson Jul 18, 2012
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0002980 Femoral bowing TAS TAS MIM:210710 HPO:probinson Jul 18, 2012
+OMIM:210710 #210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1;;MOPD I; MOPD;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I;;BRACHYMELIC PRIMORDIAL DWARFISM;;TAYBI-LINDER SYNDROME; TALS;;CEPHALOSKELETAL DYSPLASIA;;LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA HP:0005753 Limb shortening IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LIMBS OMIM:210710 HPO:skoehler Oct 17, 2012
+MIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I HP:0003097 Short femur TAS TAS MIM:210710 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210720.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210720.tab 2015-03-21 10:19:04 UTC (rev 5327)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-210720.tab 2015-03-21 13:59:17 UTC (rev 5328)
@@ -1,51 +1,52 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:210720 HPO:probinson 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000047 Hypospadias IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000252 Microcephaly TAS TAS OMIM:210720 HPO:probinson 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000278 Retrognathia IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000340 Sloping forehead IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000432 Prominent nasal root IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000540 Hypermetropia IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000582 Upslanted palpebral fissure IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000826 Precocious puberty TAS TAS OMIM:210720 HPO:probinson 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000957 Cafe-au-lait spot TAS TAS OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001249 Intellectual disability TAS TAS OMIM:210720 HPO:probinson 18.06.2010
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001263 Global developmental delay IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001511 Intrauterine growth retardation IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001620 High pitched voice IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001956 Truncal obesity IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002209 Sparse scalp hair IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002750 Delayed skeletal maturation IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002812 Coxa vara IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002866 Hypoplastic iliac wings IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002982 Tibial bowing IEA IEA OMIM:210720 HPO:skoehler 20.06.2010
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002986 Radial bowing IEA IEA OMIM:210720 HPO:skoehler 20.06.2010
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003015 Flared metaphyses IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003031 Ulnar bowing IEA IEA OMIM:210720 HPO:skoehler 20.06.2010
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003275 Narrow pelvis IEA IEA OMIM:210720 HPO:skoehler 20.06.2010
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003498 Disproportionate short stature TAS TAS OMIM:210720 HPO:probinson 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0004209 Clinodactyly of the 5th finger IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0005978 Type II diabetes mellitus TAS TAS OMIM:210720 HPO:probinson 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0006297 Hypoplasia of dental enamel IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0006461 Proximal femoral epiphysiolysis IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0008551 Microtia IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0009193 Pseudoepiphyses of the metacarpals IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0009882 Short distal phalanx of finger IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0010034 Short 1st metacarpal IEA IEA OMIM:210720 HPO 17.02.2009
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0004944 Cerebral aneurysm TAS TAS OMIM:210720 HPO:probinson 06.05.2012
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0011834 Moyamoya phenomenon TAS TAS OMIM:210720 HPO:probinson 06.05.2012
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000691 Microdontia TAS TAS Occasional OMIM:210720 HPO:probinson 06.05.2012
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000890 Long clavicles TAS TAS Occasional OMIM:210720 HPO:probinson 27.05.2012
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0006645 Thin clavicles TAS TAS Occasional OMIM:210720 HPO:probinson 27.05.2012
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0006587 Straight clavicles TAS TAS Occasional OMIM:210720 HPO:probinson 27.05.2012
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0010583 Ivory epiphyses TAS TAS Occasional In some patients - disappears with age OMIM:210720 HPO:probinson 10.06.2012
-OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0010579 Cone-shaped epiphysis TAS TAS Occasional In some patients - disappears with age OMIM:210720 HPO:probinson 10.06.2012
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000448 Prominent nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > LARGE NOSE OMIM:210720 HPO:skoehler 17.10.2012
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000774 Narrow chest IEA IEA rare OMIM-CS:CHEST_EXTERNAL FEATURES > NARROW CHEST (IN SOME PATIENTS) OMIM:210720 HPO:skoehler 18.11.2012
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000882 Hypoplastic scapulae IEA IEA rare OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > HYPOPLASTIC SCAPULAE (IN SOME PATIENTS) OMIM:210720 HPO:skoehler 18.11.2012
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0100263 Distal symphalangism IEA IEA rare OMIM-CS:SKELETAL_FEET > DISTAL SYMPHALANGISM (IN SOME PATIENTS) OMIM:210720 HPO:skoehler 18.11.2012
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0005819 Short middle phalanx of finger IEA IEA rare OMIM-CS:SKELETAL_HANDS > BRACHYMESOPHALANGY (IN SOME PATIENTS) OMIM:210720 HPO:skoehler 18.11.2012
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001377 Limited elbow extension IEA IEA rare OMIM-CS:SKELETAL_LIMBS > DECREASED ELBOW EXTENSION (IN SOME PATIENTS) OMIM:210720 HPO:skoehler 18.11.2012
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002690 Large sella turcica IEA IEA rare OMIM-CS:SKELETAL_SKULL > LARGE SELLA TURCICA (RARE) OMIM:210720 HPO:skoehler 18.11.2012
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0008897 Postnatal growth retardation IEA IEA MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION, SEVERE OMIM:210720 HPO:skoehler 06.06.2013
-OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:210720 HPO:skoehler 26.11.2014
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:210720 HPO:probinson Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000047 Hypospadias IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000252 Microcephaly TAS TAS OMIM:210720 HPO:probinson Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000278 Retrognathia IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000340 Sloping forehead IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000432 Prominent nasal root IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000540 Hypermetropia IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000582 Upslanted palpebral fissure IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000826 Precocious puberty TAS TAS OMIM:210720 HPO:probinson Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000957 Cafe-au-lait spot TAS TAS OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001249 Intellectual disability TAS TAS OMIM:210720 HPO:probinson Jun 18, 2010
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001263 Global developmental delay IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001511 Intrauterine growth retardation IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001620 High pitched voice IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001956 Truncal obesity IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002209 Sparse scalp hair IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002750 Delayed skeletal maturation IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002812 Coxa vara IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002866 Hypoplastic iliac wing IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002982 Tibial bowing IEA IEA OMIM:210720 HPO:skoehler Jun 20, 2010
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002986 Radial bowing IEA IEA OMIM:210720 HPO:skoehler Jun 20, 2010
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003015 Flared metaphyses IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003031 Ulnar bowing IEA IEA OMIM:210720 HPO:skoehler Jun 20, 2010
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003275 Narrow pelvis IEA IEA OMIM:210720 HPO:skoehler Jun 20, 2010
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003498 Disproportionate short stature TAS TAS OMIM:210720 HPO:probinson Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0004209 Clinodactyly of the 5th finger IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0005978 Type II diabetes mellitus TAS TAS OMIM:210720 HPO:probinson Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0006297 Hypoplasia of dental enamel IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0006461 Proximal femoral epiphysiolysis IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0008551 Microtia IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0009193 Pseudoepiphyses of the metacarpals IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0009882 Short distal phalanx of finger IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0010034 Short 1st metacarpal IEA IEA OMIM:210720 HPO Feb 17, 2009
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0004944 Cerebral aneurysm TAS TAS OMIM:210720 HPO:probinson May 6, 2012
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0011834 Moyamoya phenomenon TAS TAS OMIM:210720 HPO:probinson May 6, 2012
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000691 Microdontia TAS TAS Occasional OMIM:210720 HPO:probinson May 6, 2012
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000890 Long clavicles TAS TAS Occasional OMIM:210720 HPO:probinson May 27, 2012
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0006645 Thin clavicles TAS TAS Occasional OMIM:210720 HPO:probinson May 27, 2012
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0006587 Straight clavicles TAS TAS Occasional OMIM:210720 HPO:probinson May 27, 2012
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0010583 Ivory epiphyses TAS TAS Occasional In some patients - disappears with age OMIM:210720 HPO:probinson Jun 10, 2012
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0010579 Cone-shaped epiphysis TAS TAS Occasional In some patients - disappears with age OMIM:210720 HPO:probinson Jun 10, 2012
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000448 Prominent nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > LARGE NOSE OMIM:210720 HPO:skoehler Oct 17, 2012
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000774 Narrow chest IEA IEA rare OMIM-CS:CHEST_EXTERNAL FEATURES > NARROW CHEST (IN SOME PATIENTS) OMIM:210720 HPO:skoehler Nov 18, 2012
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0000882 Hypoplastic scapulae IEA IEA rare OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > HYPOPLASTIC SCAPULAE (IN SOME PATIENTS) OMIM:210720 HPO:skoehler Nov 18, 2012
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0100263 Distal symphalangism IEA IEA rare OMIM-CS:SKELETAL_FEET > DISTAL SYMPHALANGISM (IN SOME PATIENTS) OMIM:210720 HPO:skoehler Nov 18, 2012
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0005819 Short middle phalanx of finger IEA IEA rare OMIM-CS:SKELETAL_HANDS > BRACHYMESOPHALANGY (IN SOME PATIENTS) OMIM:210720 HPO:skoehler Nov 18, 2012
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001377 Limited elbow extension IEA IEA rare OMIM-CS:SKELETAL_LIMBS > DECREASED ELBOW EXTENSION (IN SOME PATIENTS) OMIM:210720 HPO:skoehler Nov 18, 2012
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0002690 Large sella turcica IEA IEA rare OMIM-CS:SKELETAL_SKULL > LARGE SELLA TURCICA (RARE) OMIM:210720 HPO:skoehler Nov 18, 2012
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0008897 Postnatal growth retardation IEA IEA MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION, SEVERE OMIM:210720 HPO:skoehler Jun 6, 2013
+OMIM:210720 #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:210720 HPO:skoehler Nov 26, 2014
+OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II HP:0003100 Slender long bone PCS PCS pmid:15372530 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-244460.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-244460.tab 2015-03-21 10:19:04 UTC (rev 5327)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-244460.tab 2015-03-21 13:59:17 UTC (rev 5328)
@@ -1,25 +1,25 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000316 Hypertelorism IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000670 Carious teeth IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000883 Thin ribs IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001250 Seizures IEA IEA OMIM:244460 HPO:skoehler 20.06.2010
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001281 Tetany IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001476 Delayed closure of the anterior fontanelle IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001511 Intrauterine growth retardation IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001764 Small feet IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001903 Anemia IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0002718 Recurrent bacterial infections IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0002750 Delayed skeletal maturation IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0002901 Hypocalcemia IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0003100 Slender long bone TAS TAS OMIM:244460 HPO:probinson 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0003508 Proportionate short stature IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0003561 Birth length <3rd percentile IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0004279 Short palm IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0004331 Decreased skull ossification IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0002917 Hypomagnesemia TAS TAS Mild OMIM:244460 HPO:probinson 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0005450 Calvarial osteosclerosis IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0006645 Thin clavicles IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0008199 Neonatal hypoparathyroidism IEA IEA OMIM:244460 HPO 17.02.2009
-OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000890 Long clavicles TAS TAS OMIM:244460 HPO:probinson 27.05.2012
-OMIM:244460 #244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1;;KCS;;KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE HP:0200055 Small hands IEA IEA OMIM-CS:SKELETAL_HANDS > SMALL HANDS OMIM:244460 HPO:skoehler 17.10.2012
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000316 Hypertelorism IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000670 Carious teeth IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000883 Thin ribs IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001250 Seizures IEA IEA OMIM:244460 HPO:skoehler Jun 20, 2010
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001281 Tetany IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001476 Delayed closure of the anterior fontanelle IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001511 Intrauterine growth retardation IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001764 Small feet IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0001903 Anemia IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0002718 Recurrent bacterial infections IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0002750 Delayed skeletal maturation IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0002901 Hypocalcemia IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0003100 Slender long bone TAS TAS OMIM:244460 HPO:probinson Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0003508 Proportionate short stature IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0003561 Birth length less than 3rd percentile IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0004279 Short palm IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0004331 Decreased skull ossification IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0002917 Hypomagnesemia TAS TAS Mild OMIM:244460 HPO:probinson Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0005450 Calvarial osteosclerosis IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0006645 Thin clavicles IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0008199 Neonatal hypoparathyroidism IEA IEA OMIM:244460 HPO Feb 17, 2009
+OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1 HP:0000890 Long clavicles TAS TAS OMIM:244460 HPO:probinson May 27, 2012
+OMIM:244460 #244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1;;KCS;;KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE HP:0200055 Small hand IEA IEA OMIM-CS:SKELETAL_HANDS > SMALL HANDS OMIM:244460 HPO:skoehler Oct 17, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602361.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602361.tab 2015-03-21 10:19:04 UTC (rev 5327)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602361.tab 2015-03-21 13:59:17 UTC (rev 5328)
@@ -1,18 +1,19 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001541 Ascites IEA IEA OMIM-CS:ABDOMEN > ASCITES OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001746 Asplenia IEA IEA rare OMIM-CS:ABDOMEN_SPLEEN > ASPLENIA (RARE) OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0006270 Hypoplastic spleen IEA IEA OMIM-CS:ABDOMEN_SPLEEN > HYPOPLASTIC SPLEEN OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000054 Micropenis IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > MICROPENIS OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001508 Failure to thrive IEA IEA MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE, SEVERE OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000526 Aniridia IEA IEA OMIM-CS:HEAD AND NECK_EYES > ANIRIDIA OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000568 Microphthalmos IEA IEA OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0010296 Ankyloglossia IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > ANKYLOGLOSSIA OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0002901 Hypocalcemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPOCALCEMIA OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000238 Hydrocephalus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0003015 Flared metaphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > FLARED METAPHYSES OMIM:602361 HPO:skoehler 17.09.2013
-OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:602361 HPO:skoehler 26.11.2014
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001541 Ascites IEA IEA OMIM-CS:ABDOMEN > ASCITES OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001746 Asplenia IEA IEA rare OMIM-CS:ABDOMEN_SPLEEN > ASPLENIA (RARE) OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0006270 Hypoplastic spleen IEA IEA OMIM-CS:ABDOMEN_SPLEEN > HYPOPLASTIC SPLEEN OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000054 Micropenis IEA IEA OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > MICROPENIS OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001508 Failure to thrive IEA IEA MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE, SEVERE OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000526 Aniridia IEA IEA OMIM-CS:HEAD AND NECK_EYES > ANIRIDIA OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000568 Microphthalmos IEA IEA OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0010296 Ankyloglossia IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > ANKYLOGLOSSIA OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0002901 Hypocalcemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPOCALCEMIA OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0000238 Hydrocephalus IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0003015 Flared metaphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > FLARED METAPHYSES OMIM:602361 HPO:skoehler Sep 17, 2013
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0001156 Brachydactyly syndrome IEA IEA OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY OMIM:602361 HPO:skoehler Nov 26, 2014
+OMIM:602361 #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA HP:0003100 Slender long bone PCS PCS OMIM-CS:ABDOMEN > ASCITES pmid:23684011 HPO:skoehler Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612921.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612921.tab 2015-03-21 10:19:04 UTC (rev 5327)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612921.tab 2015-03-21 13:59:17 UTC (rev 5328)
@@ -1,7 +1,18 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:612921 HPO:probinson Apr 7, 2013
OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0004322 Short stature TAS TAS OMIM:612921 HPO:probinson Apr 7, 2013
-OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0000463 Anteverted nares TAS TAS OMIM:612921 HPO:probinson Apr 7, 2013
-OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0002007 Frontal bossing TAS TAS OMIM:612921 HPO:probinson Apr 7, 2013
+OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0000463 Anteverted nares PCS PCS 8/8 pmid:19481195 HPO:probinson Apr 7, 2013
+OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0002007 Frontal bossing PCS PCS 8/8 pmid:19481195 HPO:probinson Apr 7, 2013
OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0005274 Prominent nasal tip TAS TAS OMIM:612921 HPO:probinson Apr 7, 2013
OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0000272 Malar flattening TAS TAS OMIM:612921 HPO:probinson Apr 7, 2013
+OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0003100 Slender long bone PCS PCS 4/8 pmid:19481195 HPO:probinson Mar 21, 2015
+OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0012471 Thick vermilion border PCS PCS 6/8 pmid:19481195 HPO:probinson Mar 21, 2015
+OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0000325 Triangular face PCS PCS 7/8 pmid:19481195 HPO:probinson Mar 21, 2015
+OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 HP:0000268 Dolichocephaly PCS PCS 7/8 pmid:19481195 HPO:probinson Mar 21, 2015
+OMIM:612921 #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2 OBSL1 ...
[truncated message content] |
|
From: <pr...@us...> - 2015-03-21 10:19:16
|
Revision: 5327
http://sourceforge.net/p/obo/svn/5327
Author: probins
Date: 2015-03-21 10:19:04 +0000 (Sat, 21 Mar 2015)
Log Message:
-----------
skeletal dysplasia revision
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113620.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183849.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184253.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187601.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245190.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277590.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601561.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609324.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610442.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113620.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113620.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113620.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -1,73 +1,72 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000028 Cryptorchidism IEA IEA 73.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000047 Hypospadias IEA IEA 33.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000104 Renal agenesis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000107 Renal cysts IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000164 Abnormality of the teeth IEA IEA 56.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000175 Cleft palate IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000196 Lower lip pit IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000204 Cleft upper lip IEA IEA OMIM:113620 HPO:skoehler 20.06.2010
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000252 Microcephaly IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000268 Dolichocephaly IEA IEA 23.0769 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000272 Malar flattening IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000347 Micrognathia IEA IEA 50.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000350 Small forehead IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000368 Low-set, posteriorly rotated ears IEA IEA 90.4762 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000396 Overfolded helix IEA IEA 90.4762 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000405 Conductive hearing impairment IEA IEA 36.8421 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000407 Sensorineural hearing impairment IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000420 Short nasal septum IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000425 Flattened nasal bridge IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000455 Broad nasal tip IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000470 Short neck IEA IEA 66.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000480 Retinal coloboma IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000486 Strabismus IEA IEA 30.5556 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000506 Telecanthus IEA IEA 58.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000508 Ptosis IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000518 Cataract IEA IEA 24.2424 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000528 Anophthalmia IEA IEA 44.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000545 Myopia IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000568 Microphthalmos IEA IEA 44.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000579 Nasolacrimal duct obstruction IEA IEA 74.3590 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000582 Upslanted palpebral fissure IEA IEA 48.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000612 Iris coloboma IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000639 Nystagmus IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000945 Flared irregular metaphyses IEA IEA 51.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000954 Single transverse palmar crease IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000987 Atypical scarring of skin IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001057 Aplasia cutis congenita IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001177 Preaxial polydactyly (hands) IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001250 Seizures IEA IEA 23.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001256 Intellectual disability, mild IEA IEA 41.6667 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001511 Intrauterine growth retardation IEA IEA 47.0588 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001614 Hypernasal speech IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001804 Hypoplastic fingernail IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002020 Gastroesophageal reflux IEA IEA 30.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002021 Pyloric stenosis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002162 Low posterior hairline IEA IEA 92.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002211 White forelock IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002216 Premature graying of hair IEA IEA 23.6842 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002335 Agenesis of cerebellar vermis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002558 Supernumerary nipples IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002715 Abnormality of the immune system IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002808 Kyphosis IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002939 Lordosis IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002987 Elbow flexion contracture IEA IEA 64.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004209 Clinodactyly of the 5th finger IEA IEA 21.0526 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004334 Dermal atrophy IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004464 Posterior auricular pit IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004467 Preauricular pit IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004785 Malrotation of colon IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0005217 Duplication of internal organs IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0005473 Fusion of middle ear ossicles IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0006610 Wide intermamillary distance IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008551 Microtia IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008559 Hypoplastic superior helix IEA IEA 43.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008606 Supraauricular pit IEA IEA 15.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0009623 Proximal placement of thumb IEA IEA 72.0000 % OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0009778 Short thumb IEA IEA OMIM:113620 HPO 17.02.2009
-OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0010566 Hamartoma IEA IEA OMIM:113620 HPO:skoehler 20.06.2010
-OMIM:113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0009794 Branchial anomaly IEA IEA OMIM-CS:HEAD AND NECK_NECK > BRANCHIAL ANOMALIES OMIM:113620 HPO:skoehler 17.10.2012
-OMIM:113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0008897 Postnatal growth retardation IEA IEA 50 % OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH DEFICIENCY (50%) OMIM:113620 HPO:skoehler 18.11.2012
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:113620 HPO:probinson Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000028 Cryptorchidism IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000047 Hypospadias IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000104 Renal agenesis IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000107 Renal cyst IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000164 Abnormality of the teeth IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000175 Cleft palate IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000196 Lower lip pit IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000204 Cleft upper lip IEA IEA OMIM:113620 HPO:skoehler Jun 20, 2010
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000252 Microcephaly TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000268 Dolichocephaly IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000272 Malar flattening IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000347 Micrognathia TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000350 Small forehead TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000396 Overfolded helix IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000405 Conductive hearing impairment IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000407 Sensorineural hearing impairment IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000420 Short nasal septum IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000425 Flattened nasal bridge IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000455 Broad nasal tip IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000470 Short neck IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000480 Retinal coloboma IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000486 Strabismus IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000506 Telecanthus IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000508 Ptosis IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000518 Cataract IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000528 Anophthalmia IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000545 Myopia IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000568 Microphthalmos IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000579 Nasolacrimal duct obstruction IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000582 Upslanted palpebral fissure IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000612 Iris coloboma IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000639 Nystagmus IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000954 Single transverse palmar crease IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000987 Atypical scarring of skin IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001057 Aplasia cutis congenita IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001177 Preaxial hand polydactyly IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001250 Seizures IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001256 Intellectual disability, mild TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001511 Intrauterine growth retardation IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001614 Hypernasal speech IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001804 Hypoplastic fingernail IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002020 Gastroesophageal reflux IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002021 Pyloric stenosis IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002162 Low posterior hairline IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002211 White forelock IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002216 Premature graying of hair TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002335 Agenesis of cerebellar vermis IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002558 Supernumerary nipple IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002808 Kyphosis IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002939 Lordosis IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002987 Elbow flexion contracture IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004209 Clinodactyly of the 5th finger IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004334 Dermal atrophy IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004464 Postauricular pit TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004467 Preauricular pit TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004785 Malrotation of colon IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0005217 Duplication of internal organs IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0005473 Fusion of middle ear ossicles IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0006610 Wide intermamillary distance IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008551 Microtia TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008559 Hypoplastic superior helix TAS TAS OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008606 Supraauricular pit IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0009623 Proximal placement of thumb IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0009778 Short thumb IEA IEA OMIM:113620 HPO Feb 17, 2009
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0010566 Hamartoma IEA IEA OMIM:113620 HPO:skoehler Jun 20, 2010
+OMIM:113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0009794 Branchial anomaly IEA IEA OMIM-CS:HEAD AND NECK_NECK > BRANCHIAL ANOMALIES OMIM:113620 HPO:skoehler Oct 17, 2012
+OMIM:113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0008897 Postnatal growth retardation IEA IEA 50% OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH DEFICIENCY (50%) OMIM:113620 HPO:skoehler Nov 18, 2012
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000358 Posteriorly rotated ears TAS TAS OMIM:113620 HPO Mar 21, 2015
+OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0010517 Ectopic thymus tissue TAS TAS OMIM:113620 HPO Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -25,7 +25,7 @@
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002663 Delayed epiphyseal ossification PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002970 Genu varum PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002816 Genu recurvatum PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003026 Short long bones PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003026 Short long bone PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003016 Metaphyseal widening PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010585 Small epiphyses PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0100168 Fragmented epiphyses PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
@@ -41,3 +41,6 @@
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0001249 Intellectual disability TAS TAS NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:177170 HPO:skoehler Nov 26, 2014
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010236 Small epiphyses of the phalanges of the hand PCS PCS ISBN-13:978-0721606156 HPO:probinson Mar 8, 2015
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0010582 Irregular epiphyses TAS TAS OMIM:177170 HPO:skoehler Mar 20, 2015
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004042 Ulnar metaphyseal irregularity PCS PCS pmid:21599986 HPO:probinson Mar 21, 2015
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004019 Radial metaphyseal irregularity PCS PCS pmid:21599986 HPO:probinson Mar 21, 2015
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002834 Flared femoral metaphysis PCS PCS pmid:21599986 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183849.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183849.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-183849.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -1,19 +1,21 @@
-Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0000164 Abnormality of the teeth IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0000945 Flared irregular metaphyses IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0001006 Hypotrichosis IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0001597 Abnormality of the nail IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002663 Late ossifying epiphyses IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002812 Coxa vara IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002869 Flared iliac wings IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002970 Genu varum IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0003032 Short femoral neck IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0003184 Decreased hip abduction IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0004581 Increased anterior vertebral height IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0005090 Lateral femoral bowing IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0006599 Medial widening of clavicles IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0008905 Rhizomelic short stature IEA IEA OMIM:183849 HPO 17.02.2009
-OMIM:183849 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS;;WHYTE SYNDROME HP:0004566 Pear-shaped vertebrae IEA IEA OMIM-CS:SKELETAL_SPINE > PEAR-SHAPED VERTEBRAL BODIES OMIM:183849 HPO:skoehler 17.10.2012
-OMIM:183849 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS;;WHYTE SYNDROME HP:0002651 Spondyloepimetaphyseal dysplasia TAS TAS Disease name contained:183849 spondyloepimetaphyseal dysplasia with hypotrichosis; OMIM:183849 HPO:skoehler 21.01.2015
-
+Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0000164 Abnormality of the teeth TAS TAS NOT NOT OMIM:183849 HPO:probinson Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0001006 Hypotrichosis TAS TAS OMIM:183849 HPO:probinson Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0001597 Abnormality of the nail TAS TAS NOT NOT OMIM:183849 HPO:probinson Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002663 Delayed epiphyseal ossification IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002812 Coxa vara IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002869 Flared iliac wings IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002970 Genu varum IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0003032 Short femoral neck IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0003184 Decreased hip abduction IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0004581 Increased anterior vertebral height IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0005090 Lateral femoral bowing IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0006599 Medial widening of clavicles IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0008905 Rhizomelia IEA IEA OMIM:183849 HPO Feb 17, 2009
+OMIM:183849 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS;;WHYTE SYNDROME HP:0004566 Pear-shaped vertebrae IEA IEA OMIM-CS:SKELETAL_SPINE > PEAR-SHAPED VERTEBRAL BODIES OMIM:183849 HPO:skoehler Oct 17, 2012
+OMIM:183849 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS;;WHYTE SYNDROME HP:0002651 Spondyloepimetaphyseal dysplasia TAS TAS Disease name contained:183849 spondyloepimetaphyseal dysplasia with hypotrichosis; OMIM:183849 HPO:skoehler Jan 21, 2015
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0002834 Flared femoral metaphysis TAS TAS OMIM:183849 HPO:probinson Mar 21, 2015
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0003911 Flared humeral metaphysis TAS TAS OMIM:183849 HPO:probinson Mar 21, 2015
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0005043 Proximal humeral metaphyseal irregularity TAS TAS OMIM:183849 HPO:probinson Mar 21, 2015
+OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS HP:0003411 Proximal femoral metaphyseal irregularity TAS TAS OMIM:183849 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184253.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184253.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184253.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -15,5 +15,7 @@
OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0006434 Hypoplasia of proximal radius TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0008839 Hypoplastic pelvis TAS TAS OMIM:184253 HPO:probinson Feb 17, 2009
OMIM:184253 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE;;SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE;;SPONDYLOMETAPHYSEAL DYSPLASIA WITH SEVERE GENU VALGUM HP:0003865 Bowed humerus TAS TAS OMIM-CS:SKELETAL_LIMBS > HUMERAL BOWING OMIM:184253 HPO:skoehler Oct 17, 2012
-OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0003026 Short long bones TAS TAS OMIM:184253 HPO:probinson Feb 22, 2015
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0003026 Short long bone TAS TAS OMIM:184253 HPO:probinson Feb 22, 2015
OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0100255 Metaphyseal dysplasia TAS TAS OMIM:184253 HPO:probinson Feb 22, 2015
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0002834 Flared femoral metaphysis PCS PCS pmid:23653587 HPO:probinson Mar 21, 2015
+OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HP:0030292 Tibial metaphyseal irregularity PCS PCS pmid:23653587 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187600.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187600.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -1,30 +1,29 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000238 Hydrocephalus IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000256 Macrocephaly IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000274 Small face IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000773 Short ribs IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000774 Narrow chest IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000910 Wide-cupped costochondral junctions IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000945 Flared irregular metaphyses IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0001252 Muscular hypotonia TAS TAS OMIM:187600 HPO:probinson 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0001558 Decreased fetal movement IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0001561 Polyhydramnios IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002007 Frontal bossing IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002093 Respiratory insufficiency IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002187 Intellectual disability, profound TAS TAS OMIM:187600 HPO:probinson 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002282 Heterotopia IEA IEA OMIM:187600 HPO:skoehler 20.06.2010
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002676 Cloverleaf skull IEA IEA OMIM:187600 HPO:skoehler 20.06.2010
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002677 Small foramen magnum IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003178 Short and small iliac bones IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003185 Small sacroiliac notches IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003811 Neonatal death IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0004565 Severe platyspondyly IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0006584 Small abnormally formed scapulae IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0008909 Lethal short-limbed short stature IEA IEA OMIM:187600 HPO 17.02.2009
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0006487 Bowing of the long bones TAS TAS OMIM:187600 HPO:probinson 05.05.2012
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003026 Short long bones TAS TAS Severe OMIM:187600 HPO:probinson 05.05.2012
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003510 Severe short stature IEA IEA Disease name contained:rfism|thanatophoric dwarfism type 1|thanatophori OMIM:187600 HPO:skoehler 21.01.2015
-OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0001263 Global developmental delay IEA IEA Disease name contained:re achondroplasia - developmental delay - acanthosis nigric OMIM:187600 HPO:skoehler 21.01.2015
-
-
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000238 Hydrocephalus IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000256 Macrocephaly IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000274 Small face IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000773 Short ribs IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000774 Narrow chest IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0000910 Wide-cupped costochondral junctions IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003015 Flared metaphyses TAS TAS OMIM:187600 HPO:probinson Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0001252 Muscular hypotonia TAS TAS OMIM:187600 HPO:probinson Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0001558 Decreased fetal movement IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0001561 Polyhydramnios IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002007 Frontal bossing IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002093 Respiratory insufficiency IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002187 Intellectual disability, profound TAS TAS OMIM:187600 HPO:probinson Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002282 Heterotopia IEA IEA OMIM:187600 HPO:skoehler Jun 20, 2010
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002676 Cloverleaf skull IEA IEA OMIM:187600 HPO:skoehler Jun 20, 2010
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0002677 Small foramen magnum IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003178 Short and small iliac bones IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003185 Short sacroiliac notch IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003811 Neonatal death IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0004565 Severe platyspondyly IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0006584 Small abnormally formed scapulae IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0008909 Lethal short-limbed short stature IEA IEA OMIM:187600 HPO Feb 17, 2009
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0006487 Bowing of the long bones TAS TAS OMIM:187600 HPO:probinson May 5, 2012
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003026 Short long bone TAS TAS Severe OMIM:187600 HPO:probinson May 5, 2012
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003510 Severe short stature IEA IEA Disease name contained:rfism|thanatophoric dwarfism type 1|thanatophori OMIM:187600 HPO:skoehler Jan 21, 2015
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0001263 Global developmental delay IEA IEA Disease name contained:re achondroplasia - developmental delay - acanthosis nigric OMIM:187600 HPO:skoehler Jan 21, 2015
+OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I HP:0003025 Metaphyseal irregularity TAS TAS OMIM:187600 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187601.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187601.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-187601.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -1,19 +1,20 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000274 Small face IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000773 Short ribs IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000774 Narrow chest IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000910 Wide-cupped costochondral junctions IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000926 Platyspondyly IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000945 Flared irregular metaphyses IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0001156 Brachydactyly IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0001558 Decreased fetal movement IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0001561 Polyhydramnios IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0002093 Respiratory insufficiency IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0002677 Small foramen magnum IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0003178 Short and small iliac bones IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0003185 Small sacroiliac notches IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0003811 Neonatal death IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0006584 Small abnormally formed scapulae IEA IEA OMIM:187601 HPO 17.02.2009
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0002676 Cloverleaf skull IEA IEA Severe OMIM:187601 HPO:probinson 01.05.2012
-OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0008909 Lethal short-limbed short stature TAS TAS OMIM:187601 HPO:probinson 01.05.2012
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000274 Small face IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000773 Short ribs IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000774 Narrow chest IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000910 Wide-cupped costochondral junctions IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0000926 Platyspondyly IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0001156 Brachydactyly syndrome IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0001558 Decreased fetal movement IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0001561 Polyhydramnios IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0002093 Respiratory insufficiency IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0002677 Small foramen magnum IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0003178 Short and small iliac bones IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0003185 Short sacroiliac notch IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0003811 Neonatal death IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0006584 Small abnormally formed scapulae IEA IEA OMIM:187601 HPO Feb 17, 2009
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0002676 Cloverleaf skull IEA IEA Severe OMIM:187601 HPO:probinson May 1, 2012
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0008909 Lethal short-limbed short stature TAS TAS OMIM:187601 HPO:probinson May 1, 2012
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0003025 Metaphyseal irregularity TAS TAS OMIM:187601 HPO:probinson Mar 21, 2015
+OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II HP:0003015 Flared metaphyses TAS TAS OMIM:187601 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245190.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245190.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245190.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -1,36 +1,37 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000160 Narrow mouth IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000175 Cleft palate IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000260 Wide anterior fontanel IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000272 Malar flattening IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000316 Hypertelorism IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000369 Low-set ears IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000377 Abnormality of the pinna IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000470 Short neck IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000774 Narrow chest IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000926 Platyspondyly IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000941 Short diaphyses IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000945 Flared irregular metaphyses IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000946 Hypoplastic ilia IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000947 Dumbbell-shaped long bone IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000969 Edema IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001156 Brachydactyly IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001538 Protuberant abdomen IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001561 Polyhydramnios IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001622 Premature birth IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001623 Breech presentation IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001631 Defect in the atrial septum IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001643 Patent ductus arteriosus IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001762 Talipes equinovarus IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0002652 Skeletal dysplasia IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0002968 Rhizomelic shortening IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0003025 Irregular metaphyses IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0003417 Coronal cleft vertebrae IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0004482 Relative macrocephaly IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0008479 Hypoplastic vertebral bodies IEA IEA OMIM:245190 HPO:skoehler 18.06.2010
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0008909 Lethal short-limbed short stature IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0011675 Arrhythmia IEA IEA OMIM:245190 HPO 17.02.2009
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000885 Broad ribs TAS TAS OMIM:245190 HPO:probinson 05.05.2012
-OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000773 Short ribs TAS TAS OMIM:245190 HPO:probinson 05.05.2012
-OMIM:245190 245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:245190 HPO:skoehler 22.10.2013
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000160 Narrow mouth IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000175 Cleft palate IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000260 Wide anterior fontanel IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000272 Malar flattening IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000316 Hypertelorism IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000369 Low-set ears IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000377 Abnormality of the pinna IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000470 Short neck IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000774 Narrow chest IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000926 Platyspondyly IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000941 Short diaphyses IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000946 Hypoplastic ilia IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000947 Dumbbell-shaped long bone IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000969 Edema IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001156 Brachydactyly syndrome IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001538 Protuberant abdomen IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001561 Polyhydramnios IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001622 Premature birth IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001623 Breech presentation IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001631 Defect in the atrial septum IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001643 Patent ductus arteriosus IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0001762 Talipes equinovarus IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0002652 Skeletal dysplasia IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0002968 Rhizomelic shortening IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0003025 Metaphyseal irregularity IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0003417 Coronal cleft vertebrae IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0004482 Relative macrocephaly IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0008479 Hypoplastic vertebral bodies IEA IEA OMIM:245190 HPO:skoehler Jun 18, 2010
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0008909 Lethal short-limbed short stature IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0011675 Arrhythmia IEA IEA OMIM:245190 HPO Feb 17, 2009
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000885 Broad ribs TAS TAS OMIM:245190 HPO:probinson May 5, 2012
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0000773 Short ribs TAS TAS OMIM:245190 HPO:probinson May 5, 2012
+OMIM:245190 245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:245190 HPO:skoehler Oct 22, 2013
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0003015 Flared metaphyses TAS TAS OMIM:245190 HPO:probinson Mar 21, 2015
+OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL HP:0003025 Metaphyseal irregularity TAS TAS OMIM:245190 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277590.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277590.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-277590.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -15,7 +15,7 @@
OMIM:277590 WEAVER SYNDROME HP:0000494 Downslanted palpebral fissures IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0000750 Delayed speech and language development IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0000773 Short ribs IEA IEA OMIM:277590 HPO Feb 17, 2009
-OMIM:277590 WEAVER SYNDROME HP:0000945 Flared irregular metaphyses IEA IEA OMIM:277590 HPO Feb 17, 2009
+OMIM:277590 WEAVER SYNDROME HP:0003911 Flared humeral metaphysis TAS TAS OMIM:277590 HPO:probinson Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0000973 Cutis laxa IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0001176 Large hands IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0001212 Prominent fingertip pads IEA IEA OMIM:277590 HPO Feb 17, 2009
@@ -37,7 +37,7 @@
OMIM:277590 WEAVER SYNDROME HP:0002650 Scoliosis IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0002673 Coxa valga IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0002808 Kyphosis IEA IEA OMIM:277590 HPO Feb 17, 2009
-OMIM:277590 WEAVER SYNDROME HP:0002866 Hypoplastic iliac wings IEA IEA OMIM:277590 HPO Feb 17, 2009
+OMIM:277590 WEAVER SYNDROME HP:0002866 Hypoplastic iliac wing IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0003066 Limited knee extension IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0003186 Inverted nipples IEA IEA OMIM:277590 HPO Feb 17, 2009
OMIM:277590 WEAVER SYNDROME HP:0004689 Short fourth metatarsal IEA IEA OMIM:277590 HPO Feb 17, 2009
@@ -57,5 +57,6 @@
OMIM:277590 WEAVER SYNDROME HP:0001816 Thin nail TAS TAS OMIM:277590 HPO:probinson Aug 9, 2013
OMIM:277590 #277590 WEAVER SYNDROME; WVS;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:277590 HPO:skoehler Oct 22, 2013
OMIM:277590 WEAVER SYNDROME HP:0010300 Abnormally low-pitched voice TAS TAS OMIM:277590 HPO:probinson May 24, 2014
-OMIM:277590 #277590 WEAVER SYNDROME; WVS;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_FEET > CLINODACTYLY OMIM:277590 HPO:skoehler 21.09.2014
-OMIM:277590 #277590 WEAVER SYNDROME; WVS;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:277590 HPO:skoehler 21.09.2014
+OMIM:277590 #277590 WEAVER SYNDROME; WVS;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_FEET > CLINODACTYLY OMIM:277590 HPO:skoehler Sep 21, 2014
+OMIM:277590 #277590 WEAVER SYNDROME; WVS;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED HP:0030084 Clinodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CLINODACTYLY OMIM:277590 HPO:skoehler Sep 21, 2014
+OMIM:277590 WEAVER SYNDROME HP:0002834 Flared femoral metaphysis TAS TAS OMIM:277590 HPO:probinson Mar 21, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601561.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601561.tab 2015-03-20 18:05:51 UTC (rev 5326)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601561.tab 2015-03-21 10:19:04 UTC (rev 5327)
@@ -1,15 +1,15 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA HP:0000175 Cleft palate IEA IEA OMIM:601561 HPO 17.02.2009
-OMIM:601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA HP:0000260 Wide anterior fontanel IEA IEA OMIM:601561 HPO 17.02.2009
-OMIM:601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA HP:0000268 Dolichocephaly IEA IEA OMIM:601561 HPO 17.02.2009
-OMIM:601561...
[truncated message content] |
|
From: <pr...@us...> - 2015-03-20 18:05:54
|
Revision: 5326
http://sourceforge.net/p/obo/svn/5326
Author: probins
Date: 2015-03-20 18:05:51 +0000 (Fri, 20 Mar 2015)
Log Message:
-----------
Revised annotation
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab 2015-03-19 19:36:35 UTC (rev 5325)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab 2015-03-20 18:05:51 UTC (rev 5326)
@@ -14,7 +14,6 @@
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001377 Limited elbow extension PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003311 Hypoplasia of the odontoid process PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003414 Atlantoaxial dislocation PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004577 anterior flattening and/or beaking of vertebrae HP:0011463 Childhood onset PCS PCS ISBN-13:978-0721606156 HPO:probinson Feb 17, 2009
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003025 Metaphyseal irregularity PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010582 Irregular epiphyses PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0001498 Carpal bone hypoplasia PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Feb 17, 2009
@@ -26,7 +25,7 @@
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002663 Delayed epiphyseal ossification PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002970 Genu varum PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002816 Genu recurvatum PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003026 Short long bone PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003026 Short long bones PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003016 Metaphyseal widening PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010585 Small epiphyses PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0100168 Fragmented epiphyses PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
@@ -38,7 +37,7 @@
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0009803 Short phalanx of finger PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0004568 Beaking of vertebral bodies PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 28, 2012
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0011405 Childhood onset short-limb short stature TAS TAS OMIM:177170 HPO:skoehler Oct 17, 2012
-OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0005063 Fragmented, irregular epiphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > FRAGMENTED, IRREGULAR EPIPHYSES OMIM:177170 HPO:skoehler Oct 17, 2012
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0003049 Ulnar deviation of the wrist TAS TAS OMIM:177170 HPO:skoehler Oct 17, 2012
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0001249 Intellectual disability TAS TAS NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:177170 HPO:skoehler Nov 26, 2014
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010236 Small epiphyses of the phalanges of the hand PCS PCS ISBN-13:978-0721606156 HPO:probinson Mar 8, 2015
+OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0010582 Irregular epiphyses TAS TAS OMIM:177170 HPO:skoehler Mar 20, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2015-03-19 19:36:39
|
Revision: 5325
http://sourceforge.net/p/obo/svn/5325
Author: cmungall
Date: 2015-03-19 19:36:35 +0000 (Thu, 19 Mar 2015)
Log Message:
-----------
new
Added Paths:
-----------
uberon/trunk/subsets/vertebrate-head.obo
Added: uberon/trunk/subsets/vertebrate-head.obo
===================================================================
--- uberon/trunk/subsets/vertebrate-head.obo (rev 0)
+++ uberon/trunk/subsets/vertebrate-head.obo 2015-03-19 19:36:35 UTC (rev 5325)
@@ -0,0 +1,35941 @@
+format-version: 1.2
+ontology: uberon/subsets/vertebrate-head
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ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0008923>)) ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0008924>))))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0009852> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0008923>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0009852> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0008924>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0010750> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001697>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0010892> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001703>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0011168> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001697>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0011169> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001697>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0011242> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0001703>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0011256> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0005402>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_0013766> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0005611>)))\nSubClassOf(<http://purl.obolibrary.org/obo/UBERON_3000112> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> ObjectIntersectionOf(ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002244>) <http://purl.obolibrary.org/obo/UBERON_0004103>)))\nIrreflexiveObjectProperty(<http://purl.obolibrary.org/obo/RO_0002351>)\nAnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/UBERON_0000972> \"AEO:0000198\"^^xsd:string)\n)
+
+[Term]
+id: CL:0000202
+name: auditory hair cell
+namespace: cell
+alt_id: CL:0000201
+def: "A mechanoreceptor cell located in the inner ear that is sensitive to auditory stimuli. The accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." [MESH:A08.663.650.250]
+comment: In mammals these cells are located in the organ of Corti.
+synonym: "auditory receptor cell" EXACT []
+synonym: "cochlear hair cell" EXACT []
+synonym: "inner ear hair cell" RELATED [GO:0060119]
+synonym: "inner ear receptor cell" RELATED [GO:0060119]
+xref: FMA:62364
+relationship: part_of UBERON:0002227 ! spiral organ of cochlea
+
+[Term]
+id: CL:0000345
+name: dental papilla cell
+namespace: cell
+def: "A mesenchymal cell that is part of a small mass of condensed mesenchyme in the enamel organ; it differentiates into the dentin and dental pulp." [GOC:tfm, ISBN:0721662544]
+comment: Merge with odontoblast?
+relationship: part_of UBERON:0001763 ! odontogenic papilla
+
+[Term]
+id: CL:0000347
+name: scleral cell
+namespace: cell
+def: "A cell of the sclera of the eye." [GOC:add]
+relationship: part_of UBERON:0001773 ! sclera
+
+[Term]
+id: CL:0000348
+name: choroidal cell of the eye
+namespace: cell
+def: "A cell of the choroid of the eye." [GOC:add]
+relationship: part_of UBERON:0001776 ! optic choroid
+
+[Term]
+id: CL:0000573
+name: retinal cone cell
+namespace: cell
+def: "One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision." [MESH:A08.663.650.650.670.100]
+xref: BTO:0001036
+xref: CALOHA:TS-0866
+xref: FMA:67748
+is_a: CL:0010009 ! camera-type eye photoreceptor cell
+
+[Term]
+id: CL:0000575
+name: corneal epithelial cell
+namespace: cell
+alt_id: CL:1000431
+def: "An epithelial cell of the cornea." [GOC:tfm]
+synonym: "epithelial cell of cornea" EXACT [FMA:70551]
+xref: BTO:0004298
+xref: CALOHA:TS-0173
+xref: FMA:70551
+relationship: part_of UBERON:0000964 ! cornea
+
+[Term]
+id: CL:0000589
+name: cochlear inner hair cell
+namespace: cell
+def: "A bulbous cell that is medially placed in one row in the organ of Corti. In contrast to the outer hair cells, the inner hair cells are fewer in number, have fewer sensory hairs, and are less differentiated." [MESH:A08.663.650.250.250]
+synonym: "inner hair cell" BROAD []
+xref: BTO:0003667
+xref: FMA:62365
+is_a: CL:0000202 ! auditory hair cell
+
+[Term]
+id: CL:0000601
+name: outer hair cell
+namespace: cell
+def: "A mechanoreceptor in the organ of Corti. In mammals the outer hair cells are arranged in three rows which are further from the modiolus than the single row of inner hair cells. The motile properties of the outer hair cells may contribute actively to tuning the sensitivity and frequency selectivity of the cochlea." [MESH:A08.663.650.250.315]
+synonym: "cochlear outer hair cell" EXACT []
+xref: BTO:0003666
+xref: FMA:62366
+is_a: CL:0000202 ! auditory hair cell
+relationship: part_of UBERON:0002227 ! spiral organ of cochlea
+
+[Term]
+id: CL:0000604
+name: retinal rod cell
+namespace: cell
+def: "One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision." [MESH:A08.663.650.650.670.650]
+xref: BTO:0001024
+xref: CALOHA:TS-0870
+xref: FMA:67747
+is_a: CL:0010009 ! camera-type eye photoreceptor cell
+
+[Term]
+id: CL:0000633
+name: Hensen cell
+namespace: cell
+def: "A tall supporting cell that is arranged in rows adjacent to the last row of outer phalangeal cells. This cell type constitutes the outer border of the organ of Corti." [GOC:tfm, ISBN:0721662544]
+synonym: "cell of Hensen" EXACT []
+synonym: "external limiting cell of organ of Corti" EXACT []
+synonym: "Hensen's cell" EXACT []
+xref: FMA:79799
+is_a: CL:0002490 ! organ of Corti supporting cell
+
+[Term]
+id: CL:0000634
+name: Claudius cell
+namespace: cell
+def: "A cuboidal cell which along with Boettcher's cells form the floor of the external spiral sulcus, external to the organ of Corti." [GOC:tfm, ISBN:0721662544]
+synonym: "cell of Claudius" EXACT []
+synonym: "external supporting cell of Claudius" EXACT []
+synonym: "external supporting cell of vestibular epithelium" EXACT []
+xref: FMA:79802
+is_a: CL:0002315 ! supporting cell of cochlea
+
+[Term]
+id: CL:0000635
+name: Deiter's cell
+namespace: cell
+def: "The outer phalangeal cells of the organ of Corti. This cell holds the base of the hair cell in a cup-shaped depression." [GOC:tfm, http://www.britannica.com/EBchecked/topic/156177/Deiters-cell, ISBN:0721662544]
+synonym: "Deiters cell" EXACT []
+synonym: "outer phalangeal cell" EXACT []
+xref: FMA:75725
+is_a: CL:0002165 ! phalangeal cell
+
+[Term]
+id: CL:0000740
+name: retinal ganglion cell
+namespace: cell
+def: "The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve." [GOC:dph]
+synonym: "gangliocyte" EXACT []
+synonym: "ganglion cell of retina" EXACT []
+synonym: "RGC" EXACT []
+xref: BTO:0001800
+xref: FMA:67765
+relationship: part_of UBERON:0000966 ! retina
+
+[Term]
+id: CL:0000745
+name: retina horizontal cell
+namespace: cell
+def: "A neuron that laterally connects other neurons in the inner nuclear layer of the retina." [ISBN:0195088433]
+synonym: "horizontal cell" EXACT []
+xref: BTO:0004120
+relationship: part_of UBERON:0003902 ! retinal neural layer
+
+[Term]
+id: CL:0000748
+name: retinal bipolar neuron
+namespace: cell
+def: "A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer." [PMID:14689473]
+relationship: part_of UBERON:0000966 ! retina
+
+[Term]
+id: CL:0000749
+name: ON-bipolar cell
+namespace: cell
+def: "A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner half of the inner plexiform layer. These cells depolarize in response to light stimulation of their corresponding photoreceptors." [PMID:14689473]
+is_a: CL:0000748 ! retinal bipolar neuron
+
+[Term]
+id: CL:0000750
+name: OFF-bipolar cell
+namespace: cell
+def: "A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the outer half of the inner plexiform layer. These cells hyperpolarize in response to light stimulation of their corresponding photoreceptors." [PMID:14689473]
+is_a: CL:0000748 ! retinal bipolar neuron
+
+[Term]
+id: CL:0000751
+name: rod bipolar cell
+namespace: cell
+def: "A bipolar neuron found in the retina and having connections with rod photoreceptor cells and neurons in the inner plexiform layer." [GOC:tfm, PMID:14689473]
+xref: FMA:67750
+is_a: CL:0000749 ! ON-bipolar cell
+
+[Term]
+id: CL:0000752
+name: cone retinal bipolar cell
+namespace: cell
+def: "A bipolar neuron found in the retina and having connections with cone photoreceptor cells and neurons in the inner plexiform layer." [PMID:14689473]
+is_a: CL:0000748 ! retinal bipolar neuron
+
+[Term]
+id: CL:0000753
+name: type 1 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An OFF-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the outer half of the inner plexiform layer. The cell body of these cells is in the middle of the inner plexiform layer. The dendritic tree is stout and the axon terminates in sublamina 1. The axonal terminal is wide and has only a few varicosities." [PMID:14689473]
+synonym: "DB1 cone bipolar cell" EXACT []
+is_a: CL:0000750 ! OFF-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000754
+name: type 2 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An OFF-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the outer half of the inner plexiform layer. The dendritic tree is not well filled and the dendrites are more delicate than in type 1 cells. The axon terminal is bushier and exhibits a dense plexus of varicosities in the inner part of sublamina 1." [PMID:14689473]
+synonym: "FMB cone bipolar cell" EXACT []
+is_a: CL:0000750 ! OFF-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000755
+name: type 3 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An OFF-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the outer half of the inner plexiform layer. The dendritic tree is delicate and the dendritic tips appear small when compared with type 1 cells. The axon terminal is stratified and restricted to sublamina 2 of the inner plexiform layer." [PMID:14689473]
+synonym: "DB2 cone bipolar cell" EXACT []
+is_a: CL:0000750 ! OFF-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000756
+name: type 4 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An OFF-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the outer half of the inner plexiform layer. The cell has a diffuse axon terminal with varicosities in sublaminae 1 and 2 of the inner plexiform layer." [PMID:14689473]
+synonym: "DB3 cone bipolar cell" EXACT []
+is_a: CL:0000750 ! OFF-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000757
+name: type 5 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An ON-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the inner half of the inner plexiform layer. The axon terminal is restricted to sublamina 3 of the inner plexiform layer. It is narrowly stratified and branched. The dendritic tree has many delicate branches." [PMID:14689473]
+synonym: "DB4 cone bipolar cell" EXACT []
+is_a: CL:0000749 ! ON-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000758
+name: type 6 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An ON-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the inner half of the inner plexiform layer. The cell has a loose, delicate axon terminal that opens in sublamina 3 of the inner plexiform layer and descends into sublamina 4." [PMID:14689473]
+synonym: "DB5 cone bipolar cell" EXACT []
+is_a: CL:0000749 ! ON-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000759
+name: type 7 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An ON-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the inner half of the inner plexiform layer. The axon terminal is narrowly stratified and are found just below a calretinin-expressing band in sublamina 4 of the inner plexiform layer." [PMID:14689473]
+synonym: "IMB cone bipolar cell" EXACT []
+is_a: CL:0000749 ! ON-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000760
+name: type 8 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An ON-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the inner half of the inner plexiform layer. This cell has the widest dendritic field and the widest axon terminal of all retinal bipolar cells. The axon terminal is delicate and stratified through sublaminae 4 and 5 of the inner plexiform layer." [PMID:14689473]
+synonym: "DB6 cone bipolar cell" EXACT []
+is_a: CL:0000749 ! ON-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000761
+name: type 9 cone bipolar cell (sensu Mus)
+namespace: cell
+def: "An ON-bipolar neuron found in the retina and having connections with cone photoreceptors cells and neurons in the inner half of the inner plexiform layer. The dendritic tree is wide and the dendritic convergence indicates cone selectivity. The axon terminal is sparsely branched and terminates in sublamina 5 of the inner plexiform layer." [PMID:14689473]
+synonym: "BB cone bipolar cell" EXACT []
+is_a: CL:0000749 ! ON-bipolar cell
+is_a: CL:0000752 ! cone retinal bipolar cell
+
+[Term]
+id: CL:0000853
+name: olfactory epithelial support cell
+namespace: cell
+def: "Olfactory epithelial support cell is a columnar cell that extends from the epithelial free margin to the basement membrane of the olfactory epithelium. This cell type has a large, vertically, elongate, euchromatic nucleus, along with other nuclei, forms a layer superficial to the cell body of the receptor cell; sends long somewhat irregular microvilli into the mucus layer; at the base, with expanded end-feet containing numerous lamellated dense bodies resembling lipofuscin of neurons." [GOC:tfm, ISBN:0517223651, SANBI:mhl]
+synonym: "olfactory sustentacular cell" EXACT []
+synonym: "supporting cell of olfactory epithelium" EXACT []
+synonym: "sustentaculocyte of olfactory epithelium" EXACT []
+xref: FMA:62302
+is_a: CL:0002169 ! basal cell of olfactory epithelium
+relationship: part_of UBERON:0001997 ! olfactory epithelium
+
+[Term]
+id: CL:0002084
+name: Boettcher cell
+namespace: cell
+def: "A Boettcher cell is a polyhedral cells on the basilar membrane of the cochlea, and is located beneath Claudius cells. A Boettcher cell is considered a supporting cell for the organ of Corti, and is present only in the lower turn of the cochlea. These cells interweave with each other, and project microvilli into the intercellular space. Because of their structural specialization, a Boettcher cell is believed to play a significant role in the function of the cochlea. They demonstrate high levels of calmodulin, and may be involved in mediating Ca(2+) regulation and ion transport." [GOC:tfm, http://en.wikipedia.org/wiki/Boettcher_cell]
+synonym: "Boettcher's cell" EXACT []
+synonym: "Bottcher cell" EXACT []
+synonym: "Bottcher's cell" EXACT []
+is_a: CL:0002315 ! supporting cell of cochlea
+created_by: tmeehan
+creation_date: 2010-07-14T03:22:02Z
+
+[Term]
+id: CL:0002162
+name: internal epithelial cell of tympanic membrane
+namespace: cell
+def: "An extremely flattened cell type found on the inner side of the tympanic membrane. The surface of this cell type carries sparse pleomorphic microvilli that are more common near the junctional zones." [FMA:5686391, GOC:tfm]
+xref: FMA:70626
+relationship: part_of UBERON:0002364 ! tympanic membrane
+created_by: tmeehan
+creation_date: 2010-08-25T10:49:46Z
+
+[Term]
+id: CL:0002163
+name: internal pillar cell of cochlea
+namespace: cell
+def: "A rod-shpaed cell that forms a single row adjacent to and supporting the inner hair cells." [GOC:tfm, http://www.theodora.com/anatomy/the_internal_ear_or_labyrinth.html]
+xref: FMA:75722
+xref: FMA:75726
+is_a: CL:1000191 ! pillar cell
+created_by: tmeehan
+creation_date: 2010-08-25T11:05:21Z
+
+[Term]
+id: CL:0002164
+name: external pillar cell of cochlea
+namespace: cell
+def: "A rod-shaped cell found in 3 or 4 rows that lie adjacent to and support the outer hair cells." [GOC:tfm, http://www.theodora.com/anatomy/the_internal_ear_or_labyrinth.html]
+xref: FMA:75727
+is_a: CL:1000191 ! pillar cell
+created_by: tmeehan
+creation_date: 2010-08-25T11:05:23Z
+
+[Term]
+id: CL:0002165
+name: phalangeal cell
+namespace: cell
+def: "A supporting cell that is attached to the basement membrane and forms rows that support the hair cells." [GOC:tfm, ISBN:0618947256]
+xref: FMA:79800
+is_a: CL:0002490 ! organ of Corti supporting cell
+created_by: tmeehan
+creation_date: 2010-08-25T01:29:07Z
+
+[Term]
+id: CL:0002166
+name: epithelial cell of Malassez
+namespace: cell
+def: "An epithelial cell that remains from the disintegration of the epithelial root sheath involved in the development of teeth." [GOC:tfm, ISBN:0517223651, ISBN:0815129521]
+synonym: "epithelial cell rests of Malassez " EXACT []
+synonym: "epithelial debris of Malassez" EXACT []
+xref: FMA:62987
+relationship: part_of UBERON:0011595 ! jaw region
+created_by: tmeehan
+creation_date: 2010-08-26T08:51:27Z
+
+[Term]
+id: CL:0002168
+name: border cell of cochlea
+namespace: cell
+def: "A border cell is a slender columnar cell on the medial portion of the basilar membrane." [FMA:0412046911, GOC:tfm]
+xref: FMA:79798
+is_a: CL:0002315 ! supporting cell of cochlea
+created_by: tmeehan
+creation_date: 2010-08-25T01:47:12Z
+
+[Term]
+id: CL:0002169
+name: basal cell of olfactory epithelium
+namespace: cell
+alt_id: CL:1000395
+def: "An epithelial cell located on the basal lamina of the olfactory epithelium." [GOC:tfm, PMID:7143026]
+synonym: "horizontal basal call" BROAD []
+xref: FMA:62303
+relationship: part_of UBERON:0001997 ! olfactory epithelium
+created_by: tmeehan
+creation_date: 2010-08-26T01:58:54Z
+
+[Term]
+id: CL:0002170
+name: keratinized cell of the oral mucosa
+namespace: cell
+def: "A keratinized cell located in the hard palate or gingiva." [GOC:tfm, PMID:12014572]
+relationship: part_of UBERON:0003729 ! mouth mucosa
+created_by: tmeehan
+creation_date: 2010-08-26T02:51:30Z
+
+[Term]
+id: CL:0002171
+name: globose cell of olfactory epithelium
+namespace: cell
+def: "A rounded or elliptical epithelial cell, with pale-staining open face nucleus and pale cytoplasm rich in free ribosomes and clusters of centrioles; form a distinct basal zone spaced slightly from the basal surface of the epithelium." [GOC:tfm, PMID:17468753]
+synonym: "blastema cell of olfactory epithelium" EXACT []
+xref: FMA:67874
+is_a: CL:0002169 ! basal cell of olfactory epithelium
+created_by: tmeehan
+creation_date: 2010-08-26T01:59:18Z
+
+[Term]
+id: CL:0002172
+name: interdental cell of cochlea
+namespace: cell
+def: "A long, spindle-shaped supporting cells arranged in parallel rows that secretes components of the tectorial membrane and potassium ions into the endolymph." [GOC:tfm, MP:0004482, PMID:2111803]
+synonym: "interdental cell" EXACT []
+xref: FMA:79797
+is_a: CL:0002315 ! supporting cell of cochlea
+relationship: part_of UBERON:0002276 ! lamina of spiral limbus
+created_by: tmeehan
+creation_date: 2010-08-25T02:02:48Z
+
+[Term]
+id: CL:0002184
+name: basal proper cell of olfactory epithelium
+namespace: cell
+def: "A flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells; lie in contact with the basal lamina of olfactory epithelium." [GOC:tfm, PMID:0517223651, PMID:11891623]
+synonym: "horizontal basal cells" EXACT []
+xref: FMA:62304
+is_a: CL:0002169 ! basal cell of olfactory epithelium
+created_by: tmeehan
+creation_date: 2010-08-26T01:59:22Z
+
+[Term]
+id: CL:0002222
+name: vertebrate lens cell
+namespace: cell
+def: "A cell comprising the transparent, biconvex body separating the posterior chamber and vitreous body, and constituting part of the refracting mechanism of the mammalian eye." [GOC:tfm, ISBN:0721662544]
+xref: FMA:70950
+relationship: part_of UBERON:0000965 ! lens of camera-type eye
+created_by: tmeehan
+creation_date: 2010-09-07T10:38:03Z
+
+[Term]
+id: CL:0002223
+name: anterior lens cell
+namespace: cell
+def: "A cell of the transparent layer of simple cuboidal epithelium over the anterior surface of the lens; transform into lens fiber(s)." [GOC:tfm, ISBN:0517223651]
+xref: FMA:63181
+is_a: CL:0002224 ! lens epithelial cell
+created_by: tmeehan
+creation_date: 2010-09-07T10:45:45Z
+
+[Term]
+id: CL:0002224
+name: lens epithelial cell
+namespace: cell
+def: "A cell of the cuboidal epithelium that covers the lens. The cells of the lens epithelium regulate most of the homeostatic functions of the lens. As ions, nutrients, and liquid enter the lens from the aqueous humor, Na+/K+ ATPase pumps in the lens epithelial cells pump ions out of the lens to maintain appropriate lens osmolarity and volume, with equatorially positioned lens epithelium cells contributing most to this current. The activity of the Na+/K+ ATPases keeps water and current flowing through the lens from the poles and exiting through the equatorial regions. The cells of the lens epithelium also serve as the progenitors for new lens fibers. It constantly lays down fibers in the embryo, fetus, infant, and adult, and continues to lay down fibers for lifelong growth." [GOC:tfm, http://en.wikipedia.org/wiki/Lens_%28anatomy%29#Lens_epithelium, ISBN:0721662544]
+xref: FMA:67559
+is_a: CL:0002222 ! vertebrate lens cell
+relationship: part_of UBERON:0001803 ! epithelium of lens
+created_by: tmeehan
+creation_date: 2010-09-07T10:45:47Z
+
+[Term]
+id: CL:0002225
+name: secondary lens fiber
+namespace: cell
+def: "A lens fiber cell that develops from primary lens fiber; located towards the center of lens; cell organelles are normally degraded or in the process of being degraded." [GOC:tfm, ISBN:0517223651]
+synonym: "secondary lens fibre" EXACT []
+is_a: CL:0011004 ! lens fiber cell
+relationship: develops_from CL:0002228 ! primary lens fiber
+created_by: tmeehan
+creation_date: 2010-09-07T10:53:39Z
+
+[Term]
+id: CL:0002226
+name: non-nucleated secondary lens fiber
+namespace: cell
+def: "A secondary lens fiber cell that lacks a nucleus." [GOC:tfm]
+synonym: "non-nucleated secondary lens fibre" EXACT []
+xref: FMA:67561
+is_a: CL:0002225 ! secondary lens fiber
+relationship: develops_from CL:0002227 ! nucleated secondary lens fiber
+created_by: tmeehan
+creation_date: 2010-09-07T11:15:23Z
+
+[Term]
+id: CL:0002227
+name: nucleated secondary lens fiber
+namespace: cell
+def: "A secondary fiber cell that contains a nucleus." [GOC:tfm]
+synonym: "nucleated secondary lens fibre" EXACT []
+xref: FMA:70949
+is_a: CL:0002225 ! secondary lens fiber
+created_by: tmeehan
+creation_date: 2010-09-07T11:15:26Z
+
+[Term]
+id: CL:0002228
+name: primary lens fiber
+namespace: cell
+def: "An elongating cell that rapidly obliterates the lumen of the lens vesicle. Subsequently, differentiation of this cell type at the lens equator leads to the formation of secondary fiber cells that come to overlie the primary fibers." [GOC:tfm, PMID:10711704]
+synonym: "primary lens fibre" EXACT []
+xref: FMA:70613
+is_a: CL:0011004 ! lens fiber cell
+relationship: develops_from CL:0002223 ! anterior lens cell
+created_by: tmeehan
+creation_date: 2010-09-07T11:19:01Z
+
+[Term]
+id: CL:0002243
+name: smooth muscle cell of sphincter of pupil
+namespace: cell
+def: "A circular smooth muscle cell of the iris, innervated by the ciliary nerves (parasympathetic), and acting to contract the pupil. This muscle cell derives from neuroectoderm. This smooth muscle cell results from transformation of epithelial cells to smooth muscle cells." [GOC:tfm, ISBN:0721662544, ISBN:0721694128]
+synonym: "smooth muscle fiber of sphincter of pupil" EXACT []
+synonym: "smooth muscle fibre of sphincter of pupil" RELATED []
+xref: FMA:70611
+relationship: part_of UBERON:0001607 ! sphincter pupillae
+created_by: tmeehan
+creation_date: 2010-09-08T08:53:42Z
+
+[Term]
+id: CL:0002314
+name: external supporting cell of vestibular epithelium
+namespace: cell
+def: "An auditory epithelial support cell located in the vestibular epithelium that has many hallmarks of glial cells. This cell type express glial markers such as vimentin, S100, glutamate-aspartate transporter, low affinity neurotrophin receptor p75, glial fibrillary acidic protein, and proteolipid protein." [GOC:tfm, PMID:20837532]
+xref: FMA:75809
+is_a: CL:0002316 ! supporting cell of vestibular epithelium
+created_by: tmeehan
+creation_date: 2010-09-14T03:20:01Z
+
+[Term]
+id: CL:0002315
+name: supporting cell of cochlea
+namespace: cell
+def: "An epithelial supporting cell located in the cochlea." [GOC:tfm]
+xref: FMA:79796
+relationship: part_of UBERON:0001844 ! cochlea
+created_by: tmeehan
+creation_date: 2010-09-14T03:31:38Z
+
+[Term]
+id: CL:0002316
+name: supporting cell of vestibular epithelium
+namespace: cell
+def: "A supporting cell of the vestibular epithelium." [GOC:tfm, PMID:20837532]
+xref: FMA:75607
+relationship: part_of UBERON:0001862 ! vestibular labyrinth
+created_by: tmeehan
+creation_date: 2010-09-14T03:31:44Z
+
+[Term]
+id: CL:0002317
+name: external limiting cell of vestibular epithelium
+namespace: cell
+def: "An external limiting cell found in the vestibular epithelium." [GOC:tfm]
+xref: FMA:75808
+is_a: CL:0002316 ! supporting cell of vestibular epithelium
+created_by: tmeehan
+creation_date: 2010-09-14T03:33:50Z
+
+[Term]
+id: CL:0002363
+name: keratocyte
+namespace: cell
+def: "A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate." [GOC:tfm, ISBN:978-0-7020-2958-5]
+synonym: "corneal fibroblast" EXACT []
+synonym: "corneal keratocyte" EXACT []
+relationship: part_of UBERON:0001777 ! substantia propria of cornea
+created_by: tmeehan
+creation_date: 2010-09-22T01:57:40Z
+
+[Term]
+id: CL:0002367
+name: trabecular meshwork cell
+namespace: cell
+def: "A cell that lines the trabecular meshwork, which is an area of tissue in the eye located around the base of the cornea, near the ciliary body, and is responsible for draining the aqueous humor from the eye via the anterior chamber (the chamber on the front of the eye covered by the cornea). This cell may play a role in regulating intraocular pressure." [GOC:tfm, PMID:14500801]
+synonym: "trabeculocyte" EXACT []
+relationship: part_of UBERON:0005969 ! eye trabecular meshwork
+created_by: tmeehan
+creation_date: 2010-09-23T04:18:50Z
+
+[Term]
+id: CL:0002480
+name: nasal mucosa goblet cell
+namespace: cell
+def: "A goblet cell located in the nasal epithelium." [GOC:cjm, GOC:tfm]
+xref: MP:0002262
+relationship: part_of UBERON:0001826 ! nasal cavity mucosa
+relationship: part_of UBERON:0005384 ! nasal cavity epithelium
+created_by: tmeehan
+creation_date: 2010-12-03T03:03:02Z
+
+[Term]
+id: CL:0002485
+name: retinal melanocyte
+namespace: cell
+def: "A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium." [GOC:tfm, MP:0010190]
+relationship: part_of UBERON:0000966 ! retina
+created_by: tmeehan
+creation_date: 2010-12-03T03:25:32Z
+
+[Term]
+id: CL:0002486
+name: strial intermediate cell
+namespace: cell
+def: "A melanocyte located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV) ." [GOC:tfm, MP:0000048]
+relationship: part_of UBERON:0002282 ! stria vascularis of cochlear duct
+created_by: tmeehan
+creation_date: 2010-12-03T03:29:15Z
+
+[Term]
+id: CL:0002490
+name: organ of Corti supporting cell
+namespace: cell
+def: "A supporting cell of the organ of Corti." [GOC:tfm, MP:0004300]
+is_a: CL:0002315 ! supporting cell of cochlea
+relationship: part_of UBERON:0002227 ! spiral organ of cochlea
+created_by: tmeehan
+creation_date: 2010-12-06T03:09:01Z
+
+[Term]
+id: CL:0002493
+name: strial basal cell
+namespace: cell
+def: "A polarized cell that is juxtaposed to fibrocytes in the underlying spiral ligament. This cell type secretes potassium ions derived from fibrocytes through gap junctions." [GOC:tfm, MP:0004365]
+comment: Basal cells form a multi-layered epithelial barrier that separates the extracellular spaces of the stria vascularis and the spiral ligament[PMID:18353863]
+relationship: part_of UBERON:0002282 ! stria vascularis of cochlear duct
+created_by: tmeehan
+creation_date: 2010-12-06T03:26:53Z
+
+[Term]
+id: CL:0002550
+name: fibroblast of the conjunctiva
+namespace: cell
+def: "A fibroblast that is part of the conjuctiva of the eye." [GOC:tfm]
+relationship: part_of UBERON:0001811 ! conjunctiva
+created_by: tmeehan
+creation_date: 2011-02-28T05:03:44Z
+
+[Term]
+id: CL:0002552
+name: fibroblast of gingiva
+namespace: cell
+relationship: part_of UBERON:0001828 ! gingiva
+created_by: tmeehan
+creation_date: 2011-02-28T05:09:12Z
+
+[Term]
+id: CL:0002565
+name: iris pigment epithelial cell
+namespace: cell
+def: "A pigment cell located in the epithelium of the iris." [GOC:tfm]
+relationship: part_of UBERON:0002506 ! iris epithelium
+created_by: tmeehan
+creation_date: 2011-03-01T05:28:52Z
+
+[Term]
+id: CL:0002585
+name: retinal blood vessel endothelial cell
+namespace: cell
+def: "A blood vessel endothelial cell that is part of the retina." [GOC:tfm]
+relationship: part_of UBERON:0000966 ! retina
+created_by: tmeehan
+creation_date: 2011-03-06T03:28:27Z
+
+[Term]
+id: CL:0002586
+name: retinal pigment epithelial cell
+namespace: cell
+def: "An epithelial cell of the retinal pigmented epithelium." [GOC:tfm]
+xref: BTO:0004910
+xref: FMA:75802
+relationship: part_of UBERON:0001782 ! pigmented layer of retina
+created_by: tmeehan
+creation_date: 2011-03-06T03:37:09Z
+
+[Term]
+id: CL:0002621
+name: gingival epithelial cell
+namespace: cell
+relationship: part_of UBERON:0001949 ! gingival epithelium
+created_by: tmeehan
+creation_date: 2011-03-14T12:46:28Z
+
+[Term]
+id: CL:0002623
+name: acinar cell of salivary gland
+namespace: cell
+def: "An acinar cell of salivary gland." [GOC:tfm]
+is_a: CL:1001596 ! salivary gland glandular cell
+relationship: part_of UBERON:0001044 ! saliva-secreting gland
+created_by: tmeehan
+creation_date: 2011-03-14T02:22:22Z
+
+[Term]
+id: CL:0002665
+name: otic fibrocyte
+namespace: cell
+def: "A fibrocyte of the cochlea that has specialized structural and molecular adaptions." [GOC:tfm, PMID:18353863]
+relationship: part_of UBERON:0006725 ! spiral ligament
+created_by: tmeehan
+creation_date: 2011-07-11T03:35:01Z
+
+[Term]
+id: CL:0002666
+name: type 2 otic fibrocyte
+namespace: cell
+def: "An otic fibrocyte that underlies the spiral prominence and is part of a mesenchymal gap junction network that regulates ionic homeostasis of the endolymph." [GOC:tfm, PMID:18353863]
+synonym: "type II otic fibrocyte" EXACT []
+synonym: "type II spiral ligament fibrocyte" EXACT [MP:0004488]
+is_a: CL:0002665 ! otic fibrocyte
+created_by: tmeehan
+creation_date: 2011-07-11T03:40:40Z
+
+[Term]
+id: CL:0002667
+name: type 5 otic fibrocyte
+namespace: cell
+def: "An otic fibrocyte that resides above the stria vasularis and is part of a mesenchymal gap junction network that regulates ionic homeostasis of the endolymph." [GOC:tfm, PMID:18353863]
+synonym: "type V otic fibrocyte" EXACT []
+synonym: "type V spiral ligament fibrocyte" EXACT []
+is_a: CL:0002665 ! otic fibrocyte
+created_by: tmeehan
+creation_date: 2011-07-11T03:40:42Z
+
+[Term]
+id: CL:0002668
+name: type 4 otic fibrocyte
+namespace: cell
+def: "An otic fibrocyte that is lateral to the basilar membrane and anchoris it to the lateral wall." [GOC:tfm, PMID:18353863]
+synonym: "type IV otic fibrocyte" EXACT []
+synonym: "type IV spiral ligament fibrocyte" EXACT [MP:0004490]
+is_a: CL:0002665 ! otic fibrocyte
+created_by: tmeehan
+creation_date: 2011-07-11T03:40:46Z
+
+[Term]
+id: CL:0002669
+name: type 3 otic fibrocyte
+namespace: cell
+def: "An otic fibrocyte that lines the otic capsule." [GOC:tfm, PMID:18353863]
+synonym: "type III otic fibrocyte" EXACT []
+synonym: "type III spiral ligament fibrocyte" EXACT [MP:0004489]
+is_a: CL:0002665 ! otic fibrocyte
+created_by: tmeehan
+creation_date: 2011-07-11T03:40:50Z
+
+[Term]
+id: CL:0002670
+name: type 1 otic fibrocyte
+namespace: cell
+def: "An otic fibrocyte that underlies the stria vascularis and is part of a mesenchymal gap junction network that regulates ionic homeostasis of the endolymph." [GOC:tfm, PMID:18353863]
+synonym: "type I otic fibrocyte" EXACT []
+synonym: "type I spiral ligament fibrocyte" EXACT [MP:0004487]
+is_a: CL:0002665 ! otic fibrocyte
+created_by: tmeehan
+creation_date: 2011-07-11T03:39:27Z
+
+[Term]
+id: CL:0002673
+name: tongue muscle cell
+namespace: cell
+def: "A skeletal muscle cell that is part of the tongue." [GOC:tfm, PMID:18816858]
+relationship: part_of UBERON:0003273 ! skeletal muscle tissue of tongue
+created_by: tmeehan
+creation_date: 2011-08-16T03:10:02Z
+
+[Term]
+id: CL:0005008
+name: macular hair cell
+namespace: cell
+def: "An auditory hair cell located in the macula that is sensitive to auditory stimuli." [GO:cvs]
+is_a: CL:0000202 ! auditory hair cell
+relationship: part_of UBERON:0000054 ! macula
+
+[Term]
+id: CL:0005015
+name: inner phalangeal cell
+namespace: cell
+def: "An auditory epithelial support cell that surrounds the nerve fibers and synapses of the auditory inner hair cells." [CL:CVS]
+xref: FMA:79801
+is_a: CL:0002165 ! phalangeal cell
+
+[Term]
+id: CL:0008021
+name: anterior lateral line ganglion neuron
+is_a: CL:2000031 ! lateral line ganglion neuron
+relationship: part_of UBERON:2001391 ! anterior lateral line ganglion
+
+[Term]
+id: CL:0010009
+name: camera-type eye photoreceptor cell
+synonym: "camera type eye photoreceptor cell" EXACT []
+relationship: part_of UBERON:0000019 ! camera-type eye
+relationship: part_of UBERON:0000966 {editor="GOC:cjm"} ! retina
+
+[Term]
+id: CL:0011004
+name: lens fiber cell
+def: "A vetebrate lens cell that is any of the elongated, tightly packed cells that make up the bulk of the mature lens in a camera-type eye." [GO:0070307, GOC:nv]
+synonym: "lens fibre cell" EXACT []
+is_a: CL:0002222 ! vertebrate lens cell
+
+[Term]
+id: CL:0011104
+name: interplexiform cell
+def: "A type of interneuron in the retinal inner nuclear layer which \ncarries information from the inner plexiform layer and the outer \nplexiform layer." [PMID:12771169] {editor="GOC:NV"}
+comment: Need to MIREOT retinal inner nuclear layer (part of)
+relationship: part_of UBERON:0001791 ! inner nuclear layer of retina
+
+[Term]
+id: CL:0011105
+name: dopamanergic interplexiform cell
+def: "A type of interneuron in the retinal inner nuclear layer which \ncarries information from the inner plexiform layer and the outer \nplexiform layer, using dopamine. " [PMID:12771169] {editor="GOC:NV"}
+comment: This type of cell is found in Danio rerio.
+is_a: CL:0011104 ! interplexiform cell
+
+[Term]
+id: CL:0011106
+name: GABAnergic interplexiform cell
+def: "A type of interneuron in the retinal inner nuclear layer which \ncarries information from the inner plexiform layer and the outer \nplexiform layer using GABA. " [PMID:12771169] {editor="GOC:NV"}
+comment: This type of cell is found in many mammals.
+is_a: CL:0011104 ! interplexiform cell
+
+[Term]
+id: CL:0011107
+name: Muller cell
+def: "Astrocyte-like radial glial cell that extends vertically throughout the retina, with the nucleus are usually in the middle of the inner nuclear layer.\n" [PMID:21911394] {editor="GOC:NV"}
+synonym: "Muller glia " EXACT []
+synonym: "Müller cell" EXACT []
+relationship: part_of UBERON:0000966 ! retina
+
+[Term]
+id: CL:0011113
+name: spiral ganglion neuron
+def: "Neuron found in the spriral ganglion." [] {editor="GOC:NV"}
+relationship: part_of UBERON:0000395 ! cochlear ganglion
+
+[Term]
+id: CL:1000050
+name: lateral line nerve glial cell
+relationship: part_of UBERON:0008906 ! lateral line nerve
+
+[Term]
+id: CL:1000191
+name: pillar cell
+namespace: cell
+def: "A rod-like cell in the inner ear, having their heads joined and their bases on the basilar membrane widely separated so as to form a spiral tunnel known as the tunnel of Corti." [GOC:tfm, PMID:12417662]
+synonym: "cochlear pillar cell" RELATED []
+synonym: "pillar cell of cochlea" EXACT []
+synonym: "pillar cell of corti" EXACT []
+synonym: "rod cell of Corti" EXACT []
+xref: FMA:75722
+is_a: CL:0002490 ! organ of Corti supporting cell
+
+[Term]
+id: CL:1000236
+name: posterior lateral line nerve glial cell
+is_a: CL:1000050 ! lateral line nerve glial cell
+relationship: part_of UBERON:2000175 ! posterior lateral line nerve
+
+[Term]
+id: CL:1000239
+name: anterior lateral line nerve glial cell
+is_a: CL:1000050 ! lateral line nerve glial cell
+relationship: part_of UBERON:2000425 ! anterior lateral line nerve
+
+[Term]
+id: CL:1000245
+name: posterior lateral line ganglion neuron
+is_a: CL:2000031 ! lateral line ganglion neuron
+relationship: part_of UBERON:2001314 ! posterior lateral line ganglion
+
+[Term]
+id: CL:1000379
+name: type 1 vestibular sensory cell of epithelium of macula of utricle of membranous labyrinth
+namespace: cell
+def: "A type I vestibular sensory cell that is part of the epithelium of macula of utricle of membranous labyrinth." [GOC:tfm]
+xref: FMA:263188
+relationship: part_of UBERON:0002214 ! macula of utricle of membranous labyrinth
+relationship: part_of UBERON:0003241 ! epithelium of utricle
+
+[Term]
+id: CL:1000380
+name: type 1 vestibular sensory cell of epithelium of macula of saccule of membranous labyrinth
+namespace: cell
+def: "A type I vestibular sensory cell that is part of the epithelium of macula of saccule of membranous labyrinth." [GOC:tfm]
+xref: FMA:263190
+relationship: part_of UBERON:0002212 ! macula of saccule of membranous labyrinth
+relationship: part_of UBERON:0003242 ! epithelium of saccule
+
+[Term]
+id: CL:1000381
+name: type 1 vestibular sensory cell of epithelium of crista of ampulla of semicircular duct of membranous labyrinth
+namespace: cell
+def: "A type I vestibular sensory cell that is part of the epithelium of crista of ampulla of semicircular duct of membranous labyrinth." [GOC:tfm]
+xref: FMA:263192
+relationship: part_of UBERON:0006935 ! crista ampullaris neuroepithelium
+
+[Term]
+id: CL:1000383
+name: type 2 vestibular sensory cell of epithelium of macula of utricle of membranous labyrinth
+namespace: cell
+def: "A type II vestibular sensory cell that is part of the epithelium of macula of utricle of membranous labyrinth." [GOC:tfm]
+xref: FMA:263196
+relationship: part_of UBERON:0002214 ! macula of utricle of membranous labyrinth
+relationship: part_of UBERON:0003241 ! epithelium of utricle
+
+[Term]
+id: CL:1000384
+name: type 2 vestibular sensory cell of epithelium of macula of saccule of membranous labyrinth
+namespace: cell
+def: "A type II vestibular sensory cell that is part of the epithelium of macula of saccule of membranous labyrinth." [GOC:tfm]
+xref: FMA:263198
+relationship: part_of UBERON:0002212 ! macula of saccule of membranous labyrinth
+relationship: part_of UBERON:0003242 ! epithelium of saccule
+
+[Term]
+id: CL:1000385
+name: type 2 vestibular sensory cell of epithelium of crista of ampulla of semicircular duct of membranous labyrinth
+namespace: cell
+def: "A type II vestibular sensory cell that is part of the epithelium of crista of ampulla of semicircular duct of membranous labyrinth." [GOC:tfm]
+xref: FMA:263200
+relationship: part_of UBERON:0006935 ! crista ampullaris neuroepithelium
+
+[Term]
+id: CL:1000391
+name: melanocyte of eyelid
+namespace: cell
+def: "A melanocyte that is part of the eyelid." [GOC:tfm]
+synonym: "eyelid melanocyte" EXACT [FMA:59175]
+synonym: "sebaceous gland of wolff" EXACT [FMA:59175]
+xref: FMA:59175
+relationship: part_of UBERON:0001711 ! eyelid
+
+[Term]
+id: CL:1000432
+name: conjunctival epithelial cell
+namespace: cell
+def: "An epithelial cell that is part of the conjunctiva." [GOC:tfm]
+synonym: "epithelial cell of conjunctiva" EXACT [FMA:70552]
+xref: FMA:70552
+relationship: part_of UBERON:0001811 ! conjunctiva
+
+[Term]
+id: CL:1000433
+name: epithelial cell of lacrimal canaliculus
+namespace: cell
+def: "An epithelial cell that is part of the lacrimal canaliculus." [GOC:tfm]
+xref: FMA:70553
+relationship: part_of UBERON:0001770 ! lacrimal canaliculus
+
+[Term]
+id: CL:1000434
+name: epithelial cell of external acoustic meatus
+namespace: cell
+def: "An epithelial cell that is part of the external acoustic meatus." [GOC:tfm]
+xref: FMA:70555
+relationship: part_of UBERON:0001352 ! external acoustic meatus
+
+[Term]
+id: CL:1000435
+name: epithelial cell of lacrimal duct
+namespace: cell
+def: "An epithelial cell that is part of the lacrimal duct." [GOC:tfm]
+xref: FMA:70559
+relationship: part_of UBERON:0001850 ! lacrimal drainage system
+
+[Term]
+id: CL:1000436
+name: epithelial cell of lacrimal sac
+namespace: cell
+def: "An epithelial cell that is part of the lacrimal sac." [GOC:tfm]
+xref: FMA:70560
+relationship: part_of UBERON:0001351 ! lacrimal sac
+
+[Term]
+id: CL:1000437
+name: epithelial cell of nasolacrimal duct
+namespace: cell
+def: "An epithelial cell that is part of the nasolacrimal duct." [GOC:tfm]
+xref: FMA:70561
+is_a: CL:1000435 ! epithelial cell of lacrimal duct
+relationship: part_of UBERON:0002392 ! nasolacrimal duct
+
+[Term]
+id: CL:1000443
+name: ciliary muscle cell
+namespace: cell
+def: "A smooth muscle cell that is part of the ciliary body." [GOC:tfm]
+synonym: "smooth muscle cell of ciliary body" EXACT [FMA:70610]
+xref: FMA:70610
+relationship: part_of UBERON:0001775 ! ciliary body
+
+[Term]
+id: CL:1000444
+name: mesothelial cell of anterior chamber of eye
+namespace: cell
+def: "A mesothelial cell that is part of the anterior chamber of eyeball." [GOC:tfm]
+xref: FMA:70615
+relationship: part_of UBERON:0001766 ! anterior chamber of eyeball
+
+[Term]
+id: CL:1000445
+name: myoepithelial cell of dilator pupillae
+namespace: cell
+def: "A myoepithelial cell that is part of the dilatator pupillae." [GOC:tfm]
+xref: FMA:70619
+relationship: part_of UBERON:0001608 ! dilatator pupillae
+
+[Term]
+id: CL:1001561
+name: vomeronasal sensory neuron
+namespace: cl
+def: "chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals" [MP:0011679]
+relationship: part_of UBERON:0002255 ! vomeronasal organ
+
+[Term]
+id: CL:1001576
+name: oral mucosa squamous cell
+def: "Squamous cell of oral epithelium." [NPX:PDR]
+synonym: "oral cavity mucosa squamous cell" RELATED [CALOHA:TS-1252]
+synonym: "oral cavity mucosa squamous epithelial cell" RELATED [CALOHA:TS-1252]
+synonym: "oral mucosa squamous epithelial cell" RELATED [CALOHA:TS-1252]
+synonym: "oral mucosa squamous epithelial cells" RELATED [CALOHA:TS-1252]
+xref: CALOHA:TS-1252
+relationship: part_of UBERON:0002424 ! oral epithelium
+
+[Term]
+id: CL:1001596
+name: salivary gland glandular cell
+def: "Glandular cell of salivary gland. Example: Serous cells, mucous cells, cuboidal epithelial cells of the intercalated ducts, simple cuboidal epithelium of the striated ducts, epithelial cells of excretory ducts." [NPX:PDR;HPA\:HPA]
+synonym: "salivary gland glandular cells" RELATED [CALOHA:TS-1282]
+xref: CALOHA:TS-1282
+relationship: part_of UBERON:0001044 ! saliva-secreting gland
+relationship: part_of UBERON:0004809 ! salivary gland epithelium
+
+[Term]
+id: CL:2000031
+name: lateral line ganglion neuron
+namespace: cell
+def: "Any neuron that is part of a lateral line ganglion." [GOC:TermGenie]
+relationship: part_of UBERON:2000120 ! lateral line ganglion
+created_by: TermGenie
+creation_date: 2014-06-25T01:17:57Z
+
+[Term]
+id: CL:2000058
+name: calvarial osteoblast
+namespace: cell
+def: "Any osteoblast that is part of a skull." [GOC:TermGenie]
+comment: http://www.sciencellonline.com/site/productInformation.php?keyword=4600
+relationship: part_of UBERON:0003129 ! skull
+created_by: TermGenie
+creation_date: 2014-10-06T19:48:30Z
+
+[Term]
+id: CL:2000070
+name: optic choroid fibroblast
+namespace: cell
+def: "Any fibroblast that is part of a optic choroid." [GOC:TermGenie]
+comment: http://www.sciencellonline.com/site/productInformation.php?keyword=6620
+relationship: part_of UBERON:0001776 ! optic choroid
+created_by: TermGenie
+creation_date: 2014-10-07T18:50:43Z
+
+[Term]
+id: CL:2000081
+name: melanocyte of skin of face
+namespace: cell
+def: "Any melanocyte of skin that is part of a skin of face." [GOC:TermGenie]
+relationship: part_of UBERON:1000021 ! skin of face
+created_by: TermGenie
+creation_date: 2014-12-02T19:10:40Z
+
+[Term]
+id: CL:2000083
+name: hair follicle dermal papilla cell of scalp
+namespace: cell
+def: "Any hair follicle dermal papilla cell that is part of a scalp." [GOC:TermGenie]
+relationship: part_of UBERON:0000403 ! scalp
+created_by: TermGenie
+creation_date: 2014-12-02T19:10:50Z
+
+[Term]
+id: CL:2000084
+name: conjunctiva goblet cell
+namespace: cell
+def: "Any goblet cell that is part of a conjunctiva." [GOC:TermGenie]
+is_a: CL:1000432 ! conjunctival epithelial cell
+relationship: part_of UBERON:0001811 ! conjunctiva
+created_by: TermGenie
+creation_date: 2014-12-02T19:28:38Z
+
+[Term]
+id: EHDAA2:0000048
+name: future external epithelium of eardrum (human)
+is_a: UBERON:0015814 ! outer ear epithelium
+relationship: part_of UBERON:0001691 ! external ear
+
+[Term]
+id: EHDAA2:0000135
+name: aortic valve leaflet mesenchyme (human)
+is_a: UBERON:0006904 ! head mesenchyme from mesoderm
+is_a: UBERON:0010258 ! mesenchyme from rhombencephalic neural crest
+relationship: develops_from EHDAA2:0004186 ! aortico-pulmonary spiral septum mesenchyme (human)
+
+[Term]
+id: EHDAA2:0000156
+name: auditory hillocks associated mesenchyme (human)
+is_a: UBERON:0006904 ! head mesenchyme from mesoderm
+relationship: develops_from UBERON:0005689 ! 2nd arch mesenchyme
+relationship: develops_from UBERON:0009584 ! 1st arch mandibular mesenchyme
+relationship: part_of UBERON:0006208 ! auditory hillocks
+
+[Term]
+id: EHDAA2:0000157
+name: auditory hillocks surface epithelium (human)
+is_a: UBERON:0015814 ! outer ear epithelium
+relationship: part_of UBERON:0006208 ! auditory hillocks
+
+[Term]
+id: EHDAA2:0000317
+name: cornea posterior epithelium (human)
+is_a: UBERON:0005638 ! anterior chamber epithelium
+relationship: develops_from EHDAA2:0000318 ! corneal stroma mesenchyme (human)
+relationship: part_of UBERON:0000964 ! cornea
+relationship: part_of UBERON:0005638 ! anterior chamber epithelium
+
+[Term]
+id: EHDAA2:0000318
+name: corneal stroma mesenchyme (human)
+is_a: UBERON:0003314 ! eye mesenchyme
+relationship: develops_from UBERON:0003314 ! eye mesenchyme
+relationship: part_of UBERON:0000964 ! cornea
+
+[Term]
+id: EHDAA2:0000341
+name: dermomyotome 01 (human)
+relationship: develops_from EHDAA2:0001849 ! somite 01 (human)
+relationship: part_of EHDAA2:0003444 ! head dermomyotome group (human)
+
+[Term]
+id: EHDAA2:0000342
+name: dermomyotome 02 (human)
+relationship: develops_from EHDAA2:0001850 ! somite 02 (human)
+relationship: part_of EHDAA2:0003444 ! head dermomyotome group (human)
+
+[Term]
+id: EHDAA2:0000343
+name: dermomyotome 03 (human)
+relationship: develops_from EHDAA2:0001851 ! somite 03 (human)
+relationship: part_of EHDAA2:0003444 ! head dermomyotome group (human)
+
+[Term]
+id: EHDAA2:0000344
+name: dermomyotome 04 (human)
+relationship: develops_from EHDAA2:0001852 ! somite 04 (human)
+relationship: part_of EHDAA2:0003444 ! head dermomyotome group (human)
+
+[Term]
+id: EHDAA2:0000390
+name: diencephalon primary meninx future arachnoid layer (human)
+is_a: UBERON:0006904 ! head mesenchyme from mesoderm
+relationship: develops_from EHDAA2:0000401 ! diencephalon primary meninx (human)
+relationship: part_of EHDAA2:0000401 ! diencephalon primary meninx (human)
+
+[Term]
+id: EHDAA2:0000391
+name: diencephalon future dura mater (human)
+is_a: UBERON:0006904 ! head mesenchyme from mesoderm
+relationship: develops_from EHDAA2:0000392 ! diencephalon primary meninx future dura mater (human)
+
+[Term]
+id: EHDAA2:0000392
+name: diencephalon primary meninx future dura mater (human)
+is_a: UBERON:0006904 ! head mesenchyme from mesoderm
+relationship: develops_from UBERON:0006904 ! head mesenchyme from mesoderm
+relationship: part_of EHDAA2:0000401 ! diencephalon primary meninx (human)
+
+[Term]
+id: EHDAA2:0000394
+name: diencephalon primary meninx future subarachnoid space (human)
+relationship: part_of EHDAA2:0000401 ! diencephalon primary meninx (human)
+
+[Term]
+id: EHDAA2:0000401
+name: diencephalon primary meninx (human)
+is_a: UBERON:0006904 ! head mesenchyme from mesoderm
+
+[Term]
+id: EHDAA2:0000438
+name: early endolymphatic appendage (human)
+is_a: UBERON:0022654 ! regional part of ear
+
+[Term]
+id: EHDAA2:0000672
+name: future sigmoid sinus (human)
+is_a: UBERON:0003496 ! head blood vessel
+
+[Term]
+id: EHDAA2:0000690
+name: hindbrain future tentorium cerebelli (human)
+is_a: UBERON:0006904 ! head mesenchyme from mesoderm
+relationship: develops_from EHDAA2:0000753 ! hindbrain primary meninx future dura mater (human)
+
+[Term]
+id: EHDAA2:0000691
+name: hindbrain primary meninx future tentorium cerebelli (human)
+is_a: UBERON:0006904 ! head mesenchyme from mesoderm
+
+[Term]
+id: EHDAA2:0...
[truncated message content] |
|
From: <cmu...@us...> - 2015-03-16 20:02:18
|
Revision: 5324
http://sourceforge.net/p/obo/svn/5324
Author: cmungall
Date: 2015-03-16 20:02:11 +0000 (Mon, 16 Mar 2015)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2015-03-15/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-03-10 08:41:14
|
Revision: 5322
http://sourceforge.net/p/obo/svn/5322
Author: probins
Date: 2015-03-10 08:41:12 +0000 (Tue, 10 Mar 2015)
Log Message:
-----------
One new disease annotation
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab 2015-03-08 09:54:10 UTC (rev 5321)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614135.tab 2015-03-10 08:41:12 UTC (rev 5322)
@@ -10,3 +10,6 @@
OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0010582 Irregular epiphyses PCS PCS see Table 1 PMID:11565064 HPO:skoehler Feb 28, 2015
OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0003301 Irregular vertebral endplates TAS TAS OMIM-CS:SKELETAL_SPINE > ENDPLATE IRREGULARITIES (THORACIC-LUMBAR VERTEBRAE) OMIM:614135 HPO:skoehler Feb 28, 2015
OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0011463 Childhood onset TAS TAS OMIM-CS:SKELETAL_SPINE > SCHMORL'S NODES OMIM:614135 HPO:skoehler Feb 28, 2015
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0006407 Irregular distal femoral epiphysis TAS TAS pmid:11565064 HPO:probinson Mar 10, 2015
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0006398 Flat distal femoral epiphysis TAS TAS pmid:11565064 HPO:probinson Mar 10, 2015
+OMIM:614135 #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 HP:0003370 Flat capital femoral epiphysis TAS TAS pmid:11565064 HPO:probinson Mar 10, 2015
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <pr...@us...> - 2015-03-08 09:54:21
|
Revision: 5321
http://sourceforge.net/p/obo/svn/5321
Author: probins
Date: 2015-03-08 09:54:10 +0000 (Sun, 08 Mar 2015)
Log Message:
-----------
Revision skel dysplasia annotations
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250215.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602271.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608940.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613073.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156400.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-156400.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -1,33 +1,32 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000121 Nephrocalcinosis TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000248 Brachycephaly TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000316 Hypertelorism TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000347 Micrognathia TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000365 Hearing impairment TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000452 Choanal stenosis TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000453 Choanal atresia TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000520 Proptosis TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000692 Misalignment of teeth TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000773 Short ribs TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000938 Osteopenia TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002978 Knee contractures TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002148 Hypophosphatemia IEA IEA OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002150 Hypercalciuria TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002515 Waddling gait TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002737 Thick skull base TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002756 Pathologic fracture TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002978 Knee contractures TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003026 Short long bones TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003072 Hypercalcemia TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003109 Hyperphosphaturia TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003155 Elevated alkaline phosphatase TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003273 Hip contracture TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003510 Severe short stature HP:0003593 Infantile onset TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0004676 prominent supraorbital arches in adult TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0005871 Metaphyseal chondrodysplasia TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0006487 Bowing of the long bones TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000829 Hypoparathyroidism TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0004209 Clinodactyly of the 5th finger TAS TAS OMIM:156400 HPO:probinson 17.02.2009
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003021 Metaphyseal cupping TAS TAS OMIM:156400 HPO:probinson 28.07.2012
-OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0100759 Clubbing of fingers TAS TAS OMIM:156400 HPO:probinson 28.07.2012
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000121 Nephrocalcinosis TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000248 Brachycephaly TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000316 Hypertelorism TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000347 Micrognathia TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000365 Hearing impairment TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000452 Choanal stenosis TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000453 Choanal atresia TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000520 Proptosis TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000692 Misalignment of teeth TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000773 Short ribs TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000938 Osteopenia TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002978 Knee contractures TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002148 Hypophosphatemia IEA IEA OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002150 Hypercalciuria TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002515 Waddling gait TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002737 Thick skull base TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0002756 Pathologic fracture TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003026 Short long bone TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003072 Hypercalcemia TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003109 Hyperphosphaturia TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003155 Elevated alkaline phosphatase TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003273 Hip contracture TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003510 Severe short stature HP:0003593 Infantile onset TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0004676 prominent supraorbital arches in adult TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0005871 Metaphyseal chondrodysplasia TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0006487 Bowing of the long bones TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0000829 Hypoparathyroidism TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0004209 Clinodactyly of the 5th finger TAS TAS OMIM:156400 HPO:probinson Feb 17, 2009
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0003021 Metaphyseal cupping TAS TAS OMIM:156400 HPO:probinson Jul 28, 2012
+OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE HP:0100759 Clubbing of fingers TAS TAS OMIM:156400 HPO:probinson Jul 28, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-177170.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -26,7 +26,7 @@
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002663 Delayed epiphyseal ossification PCS PCS http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002970 Genu varum PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0002816 Genu recurvatum PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
-MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003026 Short long bones PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003026 Short long bone PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0003016 Metaphyseal widening PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010585 Small epiphyses PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0100168 Fragmented epiphyses PCS PCS ISBN-13:978-0721606156 HPO:probinson Jul 12, 2010
@@ -41,3 +41,4 @@
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0005063 Fragmented, irregular epiphyses IEA IEA OMIM-CS:SKELETAL_LIMBS > FRAGMENTED, IRREGULAR EPIPHYSES OMIM:177170 HPO:skoehler Oct 17, 2012
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0003049 Ulnar deviation of the wrist TAS TAS OMIM:177170 HPO:skoehler Oct 17, 2012
OMIM:177170 #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC HP:0001249 Intellectual disability TAS TAS NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NORMAL INTELLIGENCE OMIM:177170 HPO:skoehler Nov 26, 2014
+MIM:177170 PSEUDOACHONDROPLASIA MIM:600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN MIM:600310 / wt COMP HP:0010236 Small epiphyses of the phalanges of the hand PCS PCS ISBN-13:978-0721606156 HPO:probinson Mar 8, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-184260.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -16,7 +16,7 @@
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002816 Genu recurvatum TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002869 Flared iliac wings TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0002970 Genu varum TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
-OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003026 Short long bones TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003026 Short long bone TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003027 Mesomelia TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003171 Horizontal acetabular roof TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003417 Coronal cleft vertebrae HP:0003623 Neonatal onset TAS TAS OMIM:184260 HPO:probinson Feb 17, 2009
@@ -29,3 +29,5 @@
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0010585 Small epiphyses TAS TAS OMIM:184260 HPO:probinson Jun 18, 2012
OMIM:184260 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;;GOLDBLATT SYNDROME;;ODONTOCHONDRODYSPLASIA; ODCD HP:0011220 Prominent forehead TAS TAS OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:184260 HPO:skoehler Oct 17, 2012
OMIM:184260 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;;GOLDBLATT SYNDROME;;ODONTOCHONDRODYSPLASIA; ODCD HP:0002657 Spondylometaphyseal dysplasia TAS TAS Disease name contained:184260 spondylometaphyseal dysplasia with dentinogenesis OMIM:184260 HPO:skoehler Jan 27, 2015
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003021 Metaphyseal cupping TAS TAS OMIM:184260 HPO:probinson Mar 8, 2015
+OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA HP:0003016 Metaphyseal widening TAS TAS OMIM:184260 HPO:probinson Mar 8, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250215.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250215.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250215.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -15,7 +15,7 @@
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0002970 Genu varum IEA IEA OMIM:250215 HPO Feb 17, 2009
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0002982 Tibial bowing IEA IEA OMIM:250215 HPO Feb 17, 2009
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0002983 Micromelia IEA IEA OMIM:250215 HPO Feb 17, 2009
-OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0003016 Metaphyseal widening IEA IEA OMIM:250215 HPO Feb 17, 2009
+OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0003016 Metaphyseal widening TAS TAS OMIM:250215 HPO:probinson Feb 17, 2009
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0003275 Narrow pelvis IEA IEA OMIM:250215 HPO Feb 17, 2009
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0003311 Hypoplasia of the odontoid process IEA IEA OMIM:250215 HPO Feb 17, 2009
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0003510 Severe short stature IEA IEA OMIM:250215 HPO Feb 17, 2009
@@ -32,5 +32,6 @@
OMIM:250215 %250215 METAPHYSEAL ACROSCYPHODYSPLASIA;;WEDGE-SHAPED EPIPHYSES OF KNEES;;CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES OF KNEES WITH BRACHYDACTYLY HP:0011220 Prominent forehead TAS TAS OMIM:250215 HPO:skoehler Oct 17, 2012
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0006205 Irregular phalanges TAS TAS OMIM:250215 HPO:probinson Apr 13, 2013
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0009803 Short phalanx of finger TAS TAS OMIM:250215 HPO:probinson Apr 13, 2013
-OMIM:250215 %250215 METAPHYSEAL ACROSCYPHODYSPLASIA;;WEDGE-SHAPED EPIPHYSES OF KNEES;;CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES OF KNEES WITH BRACHYDACTYLY HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:250215 HPO:skoehler 22.10.2013
-OMIM:250215 %250215 METAPHYSEAL ACROSCYPHODYSPLASIA;;WEDGE-SHAPED EPIPHYSES OF KNEES;;CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES OF KNEES WITH BRACHYDACTYLY HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:250215 HPO:skoehler 28.11.2013
+OMIM:250215 %250215 METAPHYSEAL ACROSCYPHODYSPLASIA;;WEDGE-SHAPED EPIPHYSES OF KNEES;;CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES OF KNEES WITH BRACHYDACTYLY HP:0012368 Flat face IEA IEA OMIM-CS:HEAD AND NECK_FACE > FLAT FACE OMIM:250215 HPO:skoehler Oct 22, 2013
+OMIM:250215 %250215 METAPHYSEAL ACROSCYPHODYSPLASIA;;WEDGE-SHAPED EPIPHYSES OF KNEES;;CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES OF KNEES WITH BRACHYDACTYLY HP:0011800 Midface retrusion IEA IEA OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA OMIM:250215 HPO:skoehler Nov 28, 2013
+OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA HP:0003021 Metaphyseal cupping TAS TAS OMIM:250215 HPO:probinson Mar 8, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260400.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-260400.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -1,32 +1,36 @@
Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000121 Nephrocalcinosis TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000774 Narrow chest TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001256 Intellectual disability, mild TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001263 Global developmental delay TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001328 Specific learning disability TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001508 Failure to thrive TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001518 Small for gestational age TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001700 Myocardial necrosis TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001738 Exocrine pancreatic insufficiency TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001875 Neutropenia TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001876 Pancytopenia TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002240 Hepatomegaly TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002570 Steatorrhea TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002750 Delayed skeletal maturation TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002812 Coxa vara TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002863 Myelodysplasia TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002910 Elevated hepatic transaminases TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002964 Susceptibility to infection TAS TAS OMIM:260400 HPO:skoehler 20.06.2010
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0003300 Ovoid vertebral bodies TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0004322 Short stature TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0004808 Acute myeloid leukemia TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0005871 Metaphyseal chondrodysplasia TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0006461 Proximal femoral epiphysiolysis TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0006598 Irregular ossification at anterior rib ends TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0008803 Narrow sacroiliac notch TAS TAS OMIM:260400 HPO:probinson 17.02.2009
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002643 Neonatal respiratory distress TAS TAS OMIM:260400 HPO:probinson 16.07.2012
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000920 Enlargement of the costochondral junction TAS TAS OMIM:260400 HPO:probinson 28.07.2012
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001903 Anemia TAS TAS OMIM:260400 HPO:probinson 28.07.2012
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001873 Thrombocytopenia TAS TAS OMIM:260400 HPO:probinson 28.07.2012
-OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0011904 Persistence of hemoglobin F TAS TAS OMIM:260400 HPO:probinson 28.07.2012
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000121 Nephrocalcinosis TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000774 Narrow chest TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001256 Intellectual disability, mild TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001263 Global developmental delay TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001328 Specific learning disability TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001508 Failure to thrive TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001518 Small for gestational age TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001700 Myocardial necrosis TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001738 Exocrine pancreatic insufficiency TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001875 Neutropenia TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001876 Pancytopenia TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002240 Hepatomegaly TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002570 Steatorrhea TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002750 Delayed skeletal maturation TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002812 Coxa vara TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002863 Myelodysplasia TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002910 Elevated hepatic transaminases TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002964 Susceptibility to infection TAS TAS OMIM:260400 HPO:skoehler Jun 20, 2010
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0003300 Ovoid vertebral bodies TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0004322 Short stature TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0004808 Acute myeloid leukemia TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0005871 Metaphyseal chondrodysplasia TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0006461 Proximal femoral epiphysiolysis TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0006598 Irregular ossification at anterior rib ends TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0008803 Narrow sacroiliac notch TAS TAS OMIM:260400 HPO:probinson Feb 17, 2009
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0002643 Neonatal respiratory distress TAS TAS OMIM:260400 HPO:probinson Jul 16, 2012
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000920 Enlargement of the costochondral junction TAS TAS OMIM:260400 HPO:probinson Jul 28, 2012
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001903 Anemia TAS TAS OMIM:260400 HPO:probinson Jul 28, 2012
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0001873 Thrombocytopenia TAS TAS OMIM:260400 HPO:probinson Jul 28, 2012
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0011904 Persistence of hemoglobin F TAS TAS OMIM:260400 HPO:probinson Jul 28, 2012
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0000907 Anterior rib cupping HP:0003593 Infantile onset PCS PCS 6/6 pmid:25416932 HPO:probinson Mar 8, 2015
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0003411 Proximal femoral metaphyseal irregularity HP:0003593 Infantile onset PCS PCS 6/6 pmid:25416932 HPO:probinson Mar 8, 2015
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0004979 Metaphyseal sclerosis PCS PCS Mixed sclerotic and lytic lesions pmid:25416932 HPO:probinson Mar 8, 2015
+OMIM:260400 SHWACHMAN-DIAMOND SYNDROME HP:0003016 Metaphyseal widening PCS PCS pmid:25416932 HPO:probinson Mar 8, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271550.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -11,3 +11,7 @@
OMIM:271550 SPONDYLOENCHONDRODYSPLASIA HP:0001257 Spasticity TAS TAS OMIM:271550 HPO:probinson Jul 22, 2012
OMIM:271550 %271550 SPONDYLOENCHONDRODYSPLASIA; SPENCD;;SPONDYLOMETAPHYSEAL DYSPLASIA WITH ENCHONDROMATOUS CHANGES;;SPONDYLOENCHONDROMATOSIS; SEM HP:0005753 Limb shortening TAS TAS OMIM-CS:GROWTH > SHORT LIMBS OMIM:271550 HPO:skoehler Oct 17, 2012
OMIM:271550 %271550 SPONDYLOENCHONDRODYSPLASIA; SPENCD;;SPONDYLOMETAPHYSEAL DYSPLASIA WITH ENCHONDROMATOUS CHANGES;;SPONDYLOENCHONDROMATOSIS; SEM HP:0002657 Spondylometaphyseal dysplasia TAS TAS Disease name contained:odysplasia; spencd;;spondylometaphyseal dysplasia with enchondromatou OMIM:271550 HPO:skoehler Jan 21, 2015
+OMIM:271550 SPONDYLOENCHONDRODYSPLASIA HP:0005868 Metaphyseal enchondromatosis PCS PCS pmid:15214014 HPO:probinson Mar 8, 2015
+OMIM:271550 SPONDYLOENCHONDRODYSPLASIA HP:0004015 Abnormality of radial metaphyses PCS PCS pmid:15214014 HPO:probinson Mar 8, 2015
+OMIM:271550 SPONDYLOENCHONDRODYSPLASIA HP:0004039 Abnormality of ulnar metaphysis TAS TAS OMIM:271550 HPO:probinson Mar 8, 2015
+OMIM:271550 SPONDYLOENCHONDRODYSPLASIA HP:0006491 Abnormality of the tibial metaphysis TAS TAS OMIM:271550 HPO:probinson Mar 8, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-271640.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -44,10 +44,10 @@
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0010049 Short metacarpal IEA IEA OMIM:271640 HPO Feb 17, 2009
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0010550 Paraplegia IEA IEA OMIM:271640 HPO:skoehler Jun 18, 2010
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0000974 Hyperextensible skin TAS TAS Mild OMIM:271640 HPO:probinson May 5, 2012
-OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003026 Short long bones TAS TAS OMIM:271640 HPO:probinson May 27, 2012
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0003026 Short long bone TAS TAS OMIM:271640 HPO:probinson May 27, 2012
OMIM:271640 %271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1;;SEMDJL HP:0008012 Congenital myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > CONGENITAL MYOPIA OMIM:271640 HPO:skoehler Oct 17, 2012
OMIM:271640 %271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1;;SEMDJL HP:0003100 Slender long bone TAS TAS OMIM:271640 HPO:skoehler Apr 9, 2013
-OMIM:271640 %271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1;;SEMDJL HP:0003026 Short long bones TAS TAS OMIM:271640 HPO:skoehler Apr 9, 2013
+OMIM:271640 %271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1;;SEMDJL HP:0003026 Short long bone TAS TAS OMIM:271640 HPO:skoehler Apr 9, 2013
OMIM:271640 %271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1;;SEMDJL HP:0003083 Dislocated radial head IEA IEA OMIM-CS:SKELETAL_LIMBS > RADIAL HEAD DISLOCATION OMIM:271640 HPO:skoehler Apr 18, 2013
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0001083 Ectopia lentis TAS TAS OMIM:271640 HPO:probinson Aug 11, 2013
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0001799 Short nail TAS TAS OMIM:271640 HPO Aug 11, 2013
@@ -66,3 +66,4 @@
OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0002756 Pathologic fracture IEA IEA OMIM-CS:SKELETAL > SPONTANEOUS FRACTURES OMIM:271640 HPO:skoehler Oct 6, 2013
OMIM:271640 #271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH ORWITHOUT FRACTURES; SEMDJL1;;SEMDJL HP:0030043 Hip Subluxation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP SUBLUXATION OMIM:271640 HPO:skoehler Jan 20, 2015
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0012368 Flat face TAS TAS OMIM:271640 HPO:probinson Feb 28, 2015
+OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY HP:0008828 Delayed proximal femoral epiphyseal ossification TAS TAS OMIM:271640 HPO Mar 8, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602271.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602271.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602271.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -9,7 +9,7 @@
OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL HP:0002812 Coxa vara TAS TAS OMIM:602271 HPO:probinson Feb 17, 2009
OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL HP:0003032 Short femoral neck TAS TAS OMIM:602271 HPO:probinson Feb 17, 2009
OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL HP:0003375 Narrow greater sacrosciatic notches TAS TAS OMIM:602271 HPO:probinson Feb 17, 2009
-OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL HP:0003411 Irregular proximal femoral metaphyses TAS TAS OMIM:602271 HPO:probinson Feb 17, 2009
+OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL HP:0003411 Proximal femoral metaphyseal irregularity TAS TAS OMIM:602271 HPO:probinson Feb 17, 2009
OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL HP:0004322 Short stature TAS TAS OMIM:602271 HPO:probinson Feb 17, 2009
OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL HP:0005257 Thoracic hypoplasia TAS TAS OMIM:602271 HPO:probinson Feb 17, 2009
OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL HP:0006532 Recurrent pneumonia TAS TAS OMIM:602271 HPO:probinson Jul 16, 2012
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608940.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608940.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608940.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -23,3 +23,6 @@
OMIM:608940 %608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY;;SMD-CRD HP:0008897 Postnatal growth retardation TAS TAS OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION OMIM:608940 HPO:skoehler Oct 17, 2012
OMIM:608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY HP:0001999 Abnormal facial shape TAS TAS NOT NOT OMIM:608940 HPO:probinson Feb 22, 2015
OMIM:608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY HP:0009381 Short finger TAS TAS OMIM:608940 HPO:probinson Feb 22, 2015
+OMIM:608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY HP:0003025 Metaphyseal irregularity PCS PCS pmid:24387990 HPO:probinson Mar 8, 2015
+OMIM:608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY HP:0001387 Joint stiffness PCS PCS pmid:24387990 HPO:probinson Mar 8, 2015
+OMIM:608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY HP:0003016 Metaphyseal widening PCS PCS pmid:24387990 HPO:probinson Mar 8, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613073.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613073.tab 2015-03-07 19:37:21 UTC (rev 5320)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613073.tab 2015-03-08 09:54:10 UTC (rev 5321)
@@ -4,3 +4,4 @@
OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0002979 Bowing of the legs PCS PCS pmid:19615667 HPO:probinson Apr 14, 2013
OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0003025 Metaphyseal irregularity PCS PCS disappeared after age 2 years pmid:19615667 HPO:probinson Apr 14, 2013
OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0100864 Short femoral neck PCS PCS disappeared after age 2 years pmid:19615667 HPO:probinson Apr 14, 2013
+OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0003016 Metaphyseal widening PCS PCS disappeared after age 2 years pmid:19615667 HPO:probinson Mar 8, 2015
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From: <pr...@us...> - 2015-03-07 19:37:29
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Revision: 5320
http://sourceforge.net/p/obo/svn/5320
Author: probins
Date: 2015-03-07 19:37:21 +0000 (Sat, 07 Mar 2015)
Log Message:
-----------
Some reannotation for metaphyseal dysplasia
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250250.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613073.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250250.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250250.tab 2015-03-07 08:17:40 UTC (rev 5319)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-250250.tab 2015-03-07 19:37:21 UTC (rev 5320)
@@ -30,3 +30,5 @@
MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0000653 Sparse eyelashes TAS TAS MIM:250250 HPO:probinson Mar 1, 2012
MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0007464 Sparse facial hair TAS TAS MIM:250250 HPO:probinson Mar 1, 2012
MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0008069 Neoplasm of the skin TAS TAS MIM:250250 HPO:probinson Apr 1, 2013
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0003016 Metaphyseal widening PCS PCS pmid:10494084 HPO:probinson Mar 7, 2015
+MIM:250250 CARTILAGE-HAIR HYPOPLASIA MIM:157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF RMRP HP:0003021 Metaphyseal cupping PCS PCS pmid:10494084 HPO:probinson Mar 7, 2015
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613073.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613073.tab 2015-03-07 08:17:40 UTC (rev 5319)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613073.tab 2015-03-07 19:37:21 UTC (rev 5320)
@@ -2,5 +2,5 @@
OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0000007 Autosomal recessive inheritance PCS PCS pmid:19615667 HPO:probinson Apr 14, 2013
OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0002983 Micromelia PCS PCS NOT NOT pmid:19615667 HPO:probinson Apr 14, 2013
OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0002979 Bowing of the legs PCS PCS pmid:19615667 HPO:probinson Apr 14, 2013
-OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0003025 Irregular metaphyses PCS PCS disappeared after age 2 years pmid:19615667 HPO:probinson Apr 14, 2013
-OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0100864 Hypoplasia of the femoral neck PCS PCS disappeared after age 2 years pmid:19615667 HPO:probinson Apr 14, 2013
+OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0003025 Metaphyseal irregularity PCS PCS disappeared after age 2 years pmid:19615667 HPO:probinson Apr 14, 2013
+OMIM:613073 #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 MMP9 HP:0100864 Short femoral neck PCS PCS disappeared after age 2 years pmid:19615667 HPO:probinson Apr 14, 2013
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