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From: <cmu...@us...> - 2014-09-19 05:33:40
|
Revision: 5205
http://sourceforge.net/p/obo/svn/5205
Author: cmungall
Date: 2014-09-19 05:33:36 +0000 (Fri, 19 Sep 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-09-18/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-08-25 14:04:24
|
Revision: 5202
http://sourceforge.net/p/obo/svn/5202
Author: koehlers
Date: 2014-08-25 14:04:08 +0000 (Mon, 25 Aug 2014)
Log Message:
-----------
annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133190.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137550.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161800.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168605.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248000.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300438.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304340.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600920.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608804.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609056.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609460.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609741.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611556.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611762.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611943.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612313.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613402.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614052.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614922.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615282.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615688.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615846.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300918.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300919.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300923.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300928.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609069.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615511.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615716.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615745.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615758.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615761.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615763.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615767.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615768.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615777.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615779.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615824.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615830.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615871.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615873.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615878.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615879.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615883.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615888.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615889.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615895.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615905.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615907.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615909.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615911.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615916.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615917.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615918.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615919.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615923.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615924.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615926.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615934.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615937.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615938.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615942.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615946.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615947.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115900.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-115900.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -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:115900 CATARACT, FLORIFORM HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:115900 HPO 17.02.2009
OMIM:115900 CATARACT, FLORIFORM HP:0000519 Congenital cataract IEA IEA OMIM:115900 HPO:skoehler 18.06.2010
+OMIM:115900 #115900 CATARACT 42; CTRCT42 HP:0000501 Glaucoma IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > GLAUCOMA (IN SOME PATIENTS) OMIM:115900 HPO:skoehler 24.08.2014
+OMIM:115900 #115900 CATARACT 42; CTRCT42 HP:0000545 Myopia IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > MYOPIA (IN SOME PATIENTS) OMIM:115900 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133190.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133190.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-133190.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -10,3 +10,4 @@
OMIM:133190 %133190 SPINOCEREBELLAR ATAXIA 34; SCA34;;ERYTHROKERATODERMIA WITH ATAXIA HP:0000962 Hyperkeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS OMIM:133190 HPO:skoehler 17.10.2012
OMIM:133190 %133190 SPINOCEREBELLAR ATAXIA 34; SCA34;;ERYTHROKERATODERMIA WITH ATAXIA HP:0002380 Fasciculations IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > FASCICULATIONS (LESS COMMON) OMIM:133190 HPO:skoehler 18.11.2012
OMIM:133190 %133190 SPINOCEREBELLAR ATAXIA 34; SCA34;;ERYTHROKERATODERMIA WITH ATAXIA HP:0002080 Intention tremor IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTENTION TREMOR (IN SOME) OMIM:133190 HPO:skoehler 18.11.2012
+OMIM:133190 #133190 SPINOCEREBELLAR ATAXIA 34; SCA34;;ERYTHROKERATODERMIA WITH ATAXIA HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:133190 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135400.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-135400.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -3,3 +3,7 @@
OMIM:135400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS HP:0000169 Gingival fibromatosis IEA IEA OMIM:135400 HPO 17.02.2009
OMIM:135400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS HP:0001007 Hirsutism IEA IEA OMIM:135400 HPO 17.02.2009
OMIM:135400 #135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;;MICRODELETION 17q24.2-q24.3 SYNDROME HP:0000998 Hypertrichosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR > HYPERTRICHOSIS OMIM:135400 HPO:skoehler 17.10.2012
+OMIM:135400 #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;HTC3;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;;CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;;MICRODELETION 17q24.2-q24.3 SYNDROME;;MICRODUPLICATION 17q24.2-q24.3 SYNDROME;;HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000494 Downslanted palpebral fissures IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > DOWNSLANTING PALPEBRAL FISSURES (IN SOME PATIENTS) OMIM:135400 HPO:skoehler 24.08.2014
+OMIM:135400 #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;HTC3;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;;CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;;MICRODELETION 17q24.2-q24.3 SYNDROME;;MICRODUPLICATION 17q24.2-q24.3 SYNDROME;;HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000286 Epicanthus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > EPICANTHAL FOLDS (IN SOME PATIENTS) OMIM:135400 HPO:skoehler 24.08.2014
+OMIM:135400 #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;HTC3;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;;CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;;MICRODELETION 17q24.2-q24.3 SYNDROME;;MICRODUPLICATION 17q24.2-q24.3 SYNDROME;;HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000414 Bulbous nose IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > BULBOUS NASAL TIP (IN SOME PATIENTS) OMIM:135400 HPO:skoehler 24.08.2014
+OMIM:135400 #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;HTC3;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;;CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;;MICRODELETION 17q24.2-q24.3 SYNDROME;;MICRODUPLICATION 17q24.2-q24.3 SYNDROME;;HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0009928 Thick nasal alae IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > THICK NASAL ALAE (IN SOME PATIENTS) OMIM:135400 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137550.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137550.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-137550.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -2,3 +2,18 @@
OMIM:137550 GIANT PIGMENTED HAIRY NEVUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:137550 HPO 17.02.2009
OMIM:137550 GIANT PIGMENTED HAIRY NEVUS HP:0012056 Cutaneous melanoma TAS TAS OMIM:137550 HPO:probinson 01.08.2012
OMIM:137550 GIANT PIGMENTED HAIRY NEVUS HP:0005600 Congenital giant melanocytic nevus TAS TAS OMIM:137550 HPO:probinson 01.08.2012
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000629 Periorbital fullness IEA IEA OMIM-CS:HEAD AND NECK_EYES > PERIORBITAL FULLNESS OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0002002 Deep philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE > DEEP PHILTRUM OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000293 Full cheeks IEA IEA OMIM-CS:HEAD AND NECK_FACE > FULL CHEEKS OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000343 Long philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE > LONG PHILTRUM OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0010759 Premaxillary Prominence IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT PREMAXILLA OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000311 Round face IEA IEA OMIM-CS:HEAD AND NECK_FACE > ROUND FACE OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000337 Broad forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > WIDE FOREHEAD OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000232 Everted lower lip vermilion IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > EVERTED LOWER LIP OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000194 Open mouth IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > OPEN MOUTH OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000463 Anteverted nares IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NARES OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0000418 Narrow nasal ridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > NARROW NASAL RIDGE OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0003196 Short nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > SHORT NOSE OMIM:137550 HPO:skoehler 24.08.2014
+OMIM:137550 #137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS;;GIANT PIGMENTED HAIRY NEVUS; GPHN;;GIANT CONGENITAL PIGMENTED NEVUS HP:0003196 Short nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > SMALL NOSE OMIM:137550 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151200.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-151200.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -21,3 +21,4 @@
OMIM:151200 %151200 LERI PLEONOSTEOSIS HP:0010049 Short metacarpal IEA IEA OMIM-CS:SKELETAL_HANDS > SHORT METACARPALS OMIM:151200 HPO:skoehler 17.07.2013
OMIM:151200 %151200 LERI PLEONOSTEOSIS HP:0009778 Short thumb IEA IEA OMIM-CS:SKELETAL_HANDS > SHORT THUMBS OMIM:151200 HPO:skoehler 17.07.2013
OMIM:151200 %151200 LERI PLEONOSTEOSIS HP:0002967 Cubitus valgus IEA IEA rare OMIM-CS:SKELETAL_LIMBS > CUBITUS VALGUS (IN SOME PATIENTS) OMIM:151200 HPO:skoehler 17.07.2013
+OMIM:151200 #151200 CHROMOSOME 8q22.1 DUPLICATION SYNDROME;;LERI PLEONOSTEOSIS HP:0001387 Joint stiffness IEA IEA OMIM-CS:SKELETAL > STIFF JOINTS OMIM:151200 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161800.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161800.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-161800.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -38,3 +38,4 @@
OMIM:161800 #161800 NEMALINE MYOPATHY 3; NEM3MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;;NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;;MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED HP:0002063 Rigidity IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > RIGIDITY (UNCOMMON) OMIM:161800 HPO:skoehler Jun 6, 2013
OMIM:161800 #161800 NEMALINE MYOPATHY 3; NEM3MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;;NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;;MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED HP:0001347 Hyperreflexia IEA IEA rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPERREFLEXIA (UNCOMMON) OMIM:161800 HPO:skoehler Jun 6, 2013
OMIM:161800 NEMALINE MYOPATHY 3 HP:0000156 High-arched palate TAS TAS OMIM:161800 HPO Aug 11, 2013
+OMIM:161800 #161800 NEMALINE MYOPATHY 3; NEM3MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;;NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;;MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED HP:0001644 Dilated cardiomyopathy IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > DILATED CARDIOMYOPATHY (RARE) OMIM:161800 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164200.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-164200.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -41,3 +41,10 @@
OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD GJA1 HP:0011359 Dry hair TAS TAS MIM:164200 HPO:skoehler Aug 11, 2013
OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD GJA1 HP:0002213 Fine hair IEA IEA MIM:164200 HPO:skoehler Aug 11, 2013
OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:164200 HPO:skoehler 24.03.2014
+OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD HP:0001631 Defect in the atrial septum IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL SEPTAL DEFECT (UNCOMMON) OMIM:164200 HPO:skoehler 24.08.2014
+OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD HP:0011675 Arrhythmia IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > CARDIAC CONDUCTION DEFECTS (UNCOMMON) OMIM:164200 HPO:skoehler 24.08.2014
+OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD HP:0000011 Neurogenic bladder IEA IEA rare OMIM-CS:GENITOURINARY_BLADDER > NEUROGENIC BLADDER (IN SOME PATIENTS) OMIM:164200 HPO:skoehler 24.08.2014
+OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD HP:0000377 Abnormality of the pinna IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > DYSPLASTIC EARS (IN SOME PATIENTS) OMIM:164200 HPO:skoehler 24.08.2014
+OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD HP:0000011 Neurogenic bladder IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NEUROGENIC BLADDER OMIM:164200 HPO:skoehler 24.08.2014
+OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:164200 HPO:skoehler 24.08.2014
+OMIM:164200 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD;;ODD SYNDROME;;OCULODENTOOSSEOUS DYSPLASIA; ODOD HP:0001808 Fragile nails IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > BRITTLE NAILS OMIM:164200 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168605.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168605.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-168605.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -19,3 +19,5 @@
OMIM:168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION HP:0007110 Central hypoventilation TAS TAS OMIM:168605 HPO:skoehler Jun 20, 2010
OMIM:168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION HP:0007311 Short stepped shuffling gait IEA IEA OMIM:168605 HPO Feb 17, 2009
OMIM:168605 #168605 PERRY SYNDROME;;PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION HP:0100785 Insomnia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INSOMNIA OMIM:168605 HPO:skoehler Oct 17, 2012
+OMIM:168605 #168605 PERRY SYNDROME;;PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION HP:0000511 Vertical supranuclear gaze palsy IEA IEA OMIM-CS:HEAD AND NECK_EYES > VERTICAL GAZE PALSY OMIM:168605 HPO:skoehler 24.08.2014
+OMIM:168605 #168605 PERRY SYNDROME;;PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION HP:0000719 Inappropriate behavior IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > INAPPROPRIATE BEHAVIOR OMIM:168605 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245600.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-245600.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -61,3 +61,12 @@
OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0001388 Joint laxity IEA IEA OMIM-CS:SKELETAL_HANDS > WRIST JOINT LAXITY OMIM:245600 HPO:skoehler Nov 21, 2012
OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0000938 Osteopenia HP:0011463 Childhood onset IEA IEA OMIM-CS:SKELETAL_SPINE > OSTEOPENIA EVIDENT IN CHILDHOOD OMIM:245600 HPO:skoehler Nov 21, 2012
OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0000574 Thick eyebrow IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > THICK EYEBROWS OMIM:245600 HPO:skoehler Nov 21, 2012
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0000646 Amblyopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > AMBLYOPIA OMIM:245600 HPO:skoehler 24.08.2014
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0000565 Esotropia IEA IEA OMIM-CS:HEAD AND NECK_EYES > ESOTROPIA OMIM:245600 HPO:skoehler 24.08.2014
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0000540 Hypermetropia IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPEROPIA OMIM:245600 HPO:skoehler 24.08.2014
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0012368 Flat face IEA IEA rare OMIM-CS:HEAD AND NECK_FACE > FLAT FACE (IN ONE PATIENT) OMIM:245600 HPO:skoehler 24.08.2014
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0000691 Microdontia IEA IEA OMIM-CS:HEAD AND NECK_TEETH > SMALL TEETH OMIM:245600 HPO:skoehler 24.08.2014
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0001270 Motor delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MOTOR DELAY (IN ONE PATIENT) OMIM:245600 HPO:skoehler 24.08.2014
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0001852 Sandal gap IEA IEA rare OMIM-CS:SKELETAL_FEET > SANDAL GAP (IN ONE PATIENT) OMIM:245600 HPO:skoehler 24.08.2014
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0006099 Metacarpophalangeal joint hyperextensibility IEA IEA rare OMIM-CS:SKELETAL_HANDS > METACARPOPHALANGEAL JOINT HYPEREXTENSIBILITY (IN ONE PATIENT) OMIM:245600 HPO:skoehler 24.08.2014
+OMIM:245600 #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY HP:0002857 Genu valgum IEA IEA rare OMIM-CS:SKELETAL_LIMBS > GENU VALGUM (IN ONE PATIENT) OMIM:245600 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248000.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248000.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-248000.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -7,3 +7,14 @@
OMIM:248000 MACROCEPHALY HP:0008239 Adrenal medullary hypoplasia IEA IEA OMIM:248000 HPO 17.02.2009
OMIM:248000 248000 MACROCEPHALY;;MEGALENCEPHALY HP:0000256 Macrocephaly IEA IEA OMIM-CS:HEENT > LARGE HEAD OMIM:248000 HPO:skoehler 22.10.2013
OMIM:248000 248000 MACROCEPHALY;;MEGALENCEPHALY HP:0000256 Macrocephaly IEA IEA OMIM-CS:HEENT > MACROCEPHALY OMIM:248000 HPO:skoehler 22.10.2013
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000483 Astigmatism IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > ASTIGMATISM (1 FAMILY) OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000545 Myopia IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > MYOPIA (1 FAMILY) OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000337 Broad forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > BROAD FOREHEAD OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000307 Pointed chin IEA IEA OMIM-CS:HEAD AND NECK_FACE > POINTED CHIN OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000303 Mandibular prognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROGNATHISM OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000268 Dolichocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > SCAPHOCEPHALY OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000709 Psychosis IEA IEA rare OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > PSYCHOSIS (1 FAMILY) OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000238 Hydrocephalus IEA IEA NOT NOT OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NO HYDROCEPHALUS OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPEECH DELAY OMIM:248000 HPO:skoehler 24.08.2014
+OMIM:248000 #248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH HP:0010499 Patellar subluxation IEA IEA rare OMIM-CS:SKELETAL_LIMBS > PATELLAR SUBLUXATION (1 FAMILY) OMIM:248000 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300438.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300438.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300438.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -16,3 +16,4 @@
OMIM:300438 HYDROXYACYL-COA DEHYDROGENASE II DEFICIENCY HP:0003593 Infantile onset IEA IEA OMIM:300438 HPO 17.02.2009
OMIM:300438 #300438 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY;;HSD17B10 DEFICIENCY;;HSD10 DEFICIENCY;;3-@HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY;;2-@METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY;;MHBD DEFICIENCY HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:300438 HPO:skoehler 17.10.2012
OMIM:300438 #300438 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY;;HSD17B10 DEFICIENCY;;HSD10 DEFICIENCY;;3-@HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY;;2-@METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY;;MHBD DEFICIENCY HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:300438 HPO:skoehler 17.10.2012
+OMIM:300438 #300438 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY;;HSD17B10 DEFICIENCY;;HSD10 DEFICIENCY;;3-@HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY;;2-@METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY;;MHBD DEFICIENCY HP:0001639 Hypertrophic cardiomyopathy IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > HYPERTROPHIC CARDIOMYOPATHY OMIM:300438 HPO:skoehler 24.08.2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300918.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300918.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300918.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -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:300918 #300918 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES, X-LINKED;;OLMSTED SYNDROME, X-LINKED; OLMSX HP:0008392 Subungual hyperkeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_NAILS > SUBUNGUAL HYPERKERATOSIS OMIM:300918 HPO:skoehler 24.08.2014
+OMIM:300918 #300918 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES, X-LINKED;;OLMSTED SYNDROME, X-LINKED; OLMSX HP:0000962 Hyperkeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS OMIM:300918 HPO:skoehler 24.08.2014
+OMIM:300918 #300918 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES, X-LINKED;;OLMSTED SYNDROME, X-LINKED; OLMSX HP:0000972 Palmoplantar hyperkeratosis IEA IEA MODIFIER:SEVERE;OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALMOPLANTAR HYPERKERATOSIS, SEVERE OMIM:300918 HPO:skoehler 24.08.2014
+OMIM:300918 #300918 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES, X-LINKED;;OLMSTED SYNDROME, X-LINKED; OLMSX HP:0001036 Parakeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PARAKERATOSIS OMIM:300918 HPO:skoehler 24.08.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300918.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300919.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300919.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300919.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -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
+OMIM:300919 #300919 MENTAL RETARDATION, X-LINKED 99; MRX99 HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:300919 HPO:skoehler 24.08.2014
+OMIM:300919 #300919 MENTAL RETARDATION, X-LINKED 99; MRX99 HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_HEAD > PROMINENT FOREHEAD OMIM:300919 HPO:skoehler 24.08.2014
+OMIM:300919 #300919 MENTAL RETARDATION, X-LINKED 99; MRX99 HP:0000718 Aggressive behavior IEA IEA rare OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AGGRESSIVE BEHAVIOR (IN SOME PATIENTS) OMIM:300919 HPO:skoehler 24.08.2014
+OMIM:300919 #300919 MENTAL RETARDATION, X-LINKED 99; MRX99 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:300919 HPO:skoehler 24.08.2014
+OMIM:300919 #300919 MENTAL RETARDATION, X-LINKED 99; MRX99 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:300919 HPO:skoehler 24.08.2014
+OMIM:300919 #300919 MENTAL RETARDATION, X-LINKED 99; MRX99 HP:0011304 Broad thumb IEA IEA OMIM-CS:SKELETAL_HANDS > BROAD THUMBS OMIM:300919 HPO:skoehler 24.08.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300919.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300923.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300923.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300923.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -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
+OMIM:300923 #300923 MENTAL RETARDATION, X-LINKED 100; MRX100 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MILD TO MODERATE OMIM:300923 HPO:skoehler 24.08.2014
+OMIM:300923 #300923 MENTAL RETARDATION, X-LINKED 100; MRX100 HP:0002465 Poor speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POOR SPEECH OMIM:300923 HPO:skoehler 24.08.2014
+OMIM:300923 #300923 MENTAL RETARDATION, X-LINKED 100; MRX100 HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:300923 HPO:skoehler 24.08.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300923.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300928.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300928.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300928.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -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
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0000400 Macrotia IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > LARGE EARS (IN SOME PATIENTS) OMIM:300928 HPO:skoehler 24.08.2014
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > SQUINT OMIM:300928 HPO:skoehler 24.08.2014
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:300928 HPO:skoehler 24.08.2014
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0000276 Long face IEA IEA rare OMIM-CS:HEAD AND NECK_FACE > LONG FACE (IN SOME PATIENTS) OMIM:300928 HPO:skoehler 24.08.2014
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0000752 Hyperactivity IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > HYPERACTIVITY OMIM:300928 HPO:skoehler 24.08.2014
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY OMIM:300928 HPO:skoehler 24.08.2014
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:300928 HPO:skoehler 24.08.2014
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0002465 Poor speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POOR SPEECH OMIM:300928 HPO:skoehler 24.08.2014
+OMIM:300928 #300928 MENTAL RETARDATION, X-LINKED 101; MRX101 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN SOME PATIENTS) OMIM:300928 HPO:skoehler 24.08.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300928.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304340.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304340.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-304340.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -2,3 +2,25 @@
OMIM:304340 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE,AND SEIZURES HP:0000407 Sensorineural hearing impairment IEA IEA OMIM:304340 HPO 17.02.2009
OMIM:304340 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE,AND SEIZURES HP:0001417 X-linked inheritance IEA IEA OMIM:304340 HPO 17.02.2009
OMIM:304340 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE,AND SEIZURES HP:0005101 High-frequency hearing impairment IEA IEA OMIM:304340 HPO 17.02.2009
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0000490 Deeply set eye IEA IEA OMIM-CS:HEAD AND NECK_EYES > DEEP-SET EYES OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0000280 Coarse facial features IEA IEA OMIM-CS:HEAD AND NECK_FACE > COARSE FACIAL FEATURES OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0000276 Long face IEA IEA OMIM-CS:HEAD AND NECK_FACE > LONG FACE OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0011220 Prominent forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT FOREHEAD OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0000303 Mandibular prognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT JAW OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0012471 Thick vermilion border IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > FULL LIPS OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0000154 Wide mouth IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > LARGE MOUTH OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0000448 Prominent nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > LARGE NOSE OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0100716 Self-injurious behavior IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > SELF-INJURIOUS BEHAVIOR OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0002066 Gait ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIC GAIT OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0001266 Choreoathetosis IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CHOREOATHETOSIS OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0001305 Dandy-Walker malformation IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DANDY-WALKER MALFORMATION (IN SOME PATIENTS) OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0002119 Ventriculomegaly IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENLARGED VENTRICLES (IN SOME PATIENTS) OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0000238 Hydrocephalus IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS (IN SOME PATIENTS) OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0002514 Cerebral calcification IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTRACRANIAL CALCIFICATIONS (IN SOME PATIENTS) OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0001249 Intellectual disability IEA IEA MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0001347 Hyperreflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPERREFLEXIA OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:304340 HPO:skoehler 24.08.2014
+OMIM:304340 #304340 MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;;MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASALGANGLIA DISEASE, AND SEIZURES;;PETTIGREW SYNDROME; PGS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;;MENTAL RETARDATION, X-LINKED 59; MRX59;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:304340 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600920.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-600920.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -36,3 +36,4 @@
OMIM:600920 VAN DEN ENDE-GUPTA SYNDROME HP:0010307 Stridor IEA IEA OMIM:600920 HPO:skoehler 18.06.2010
OMIM:600920 VAN DEN ENDE-GUPTA SYNDROME HP:0010493 Increased length of metacarpals TAS TAS OMIM:600920 HPO:probinson 03.06.2012
OMIM:600920 #600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS;;MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION;;BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES HP:0001847 Long hallux IEA IEA OMIM-CS:SKELETAL_FEET > LONG HALLUCES OMIM:600920 HPO:skoehler 17.10.2012
+OMIM:600920 #600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS;;MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION;;BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES HP:0001363 Craniosynostosis IEA IEA OMIM-CS:SKELETAL_SKULL > CRANIOSYNOSTOSIS OMIM:600920 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608804.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608804.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608804.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -23,3 +23,7 @@
OMIM:608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1 HP:0100543 Cognitive impairment TAS TAS OMIM:608804 HPO:probinson 17.02.2009
OMIM:608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1 HP:0002080 Intention tremor TAS TAS OMIM:608804 HPO:probinson 24.07.2012
OMIM:608804 #608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2;;PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:608804 HPO:skoehler 04.04.2014
+OMIM:608804 #608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2;;PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1 HP:0000545 Myopia IEA IEA OMIM-CS:HEAD AND NECK_EYES > MYOPIA OMIM:608804 HPO:skoehler 24.08.2014
+OMIM:608804 #608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2;;PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1 HP:0001332 Dystonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA OMIM:608804 HPO:skoehler 24.08.2014
+OMIM:608804 #608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2;;PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1 HP:0002465 Poor speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POOR SPEECH OMIM:608804 HPO:skoehler 24.08.2014
+OMIM:608804 #608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2;;PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1 HP:0002063 Rigidity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RIGIDITY OMIM:608804 HPO:skoehler 24.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609056.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609056.tab 2014-08-22 23:03:57 UTC (rev 5201)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609056.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -20,3 +20,4 @@
OMIM:609056 #609056 AMISH INFANTILE EPILEPSY SYNDROME;;EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC;;GM3 SYNTHASE DEFICIENCY HP:0002133 Status epilepticus TAS TAS OMIM:609056 HPO:skoehler Jun 4, 2013
OMIM:609056 AMISH INFANTILE EPILEPSY SYNDROME HP:0012391 Hyporeflexia of upper limbs TAS TAS OMIM:609056 HPO:probinson Dec 19, 2013
OMIM:609056 #609056 AMISH INFANTILE EPILEPSY SYNDROME;;EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC;;GM3 SYNTHASE DEFICIENCY HP:0002376 Developmental regression IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL REGRESSION OMIM:609056 HPO:skoehler 04.04.2014
+OMIM:609056 #609056 AMISH INFANTILE EPILEPSY SYNDROME;;EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC;;GM3 SYNTHASE DEFICIENCY;;SALT AND PEPPER MENTAL RETARDATION SYNDROME HP:0000252 Microcephaly IEA IEA rare OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (IN SOME PATIENTS) OMIM:609056 HPO:skoehler 24.08.2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609069.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609069.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609069.tab 2014-08-25 14:04:08 UTC (rev 5202)
@@ -0,0 +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:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0001684 Secundum atrial septal defect IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > SECUNDUM ATRIAL SEPTAL DEFECT (IN SOME PATIENTS) OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0000768 Pectus carinatum IEA IEA rare OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > PECTUS CARINATUM (IN SOME PATIENTS) OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0001508 Failure to thrive IEA IEA OMIM-CS:GROWTH > FAILURE TO THRIVE OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0000377 Abnormality of the pinna IEA IEA OMIM-CS:HEAD AND NECK_EARS > DYSPLASTIC EARS OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0000369 Low-set ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0000609 Optic nerve hypoplasia IEA IEA OMIM-CS:HEAD AND NECK_EYES > OPTIC NERVE HYPOPLASIA OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0000331 Short chin IEA IEA OMIM-CS:HEAD AND NECK_FACE > SMALL CHIN OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0000325 Triangular face IEA IEA OMIM-CS:HEAD AND NECK_FACE > TRIANGULAR FACE OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0000444 Convex nasal ridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BEAKED NOSE OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0001002 Decreased subcutaneous fat IEA IEA OMIM-CS:MUSCLE > DECREASED SUBCUTANEOUS FAT OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0001387 Joint stiffness IEA IEA OMIM-CS:SKELETAL > JOINT STIFFNESS OMIM:609069 HPO:skoehler 24.08.2014
+OMIM:609069 #609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA;;DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS HP:0010557 Overlappi...
[truncated message content] |
|
From: <cmu...@us...> - 2014-08-22 23:04:00
|
Revision: 5201
http://sourceforge.net/p/obo/svn/5201
Author: cmungall
Date: 2014-08-22 23:03:57 +0000 (Fri, 22 Aug 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-08-22/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-08-22 00:27:25
|
Revision: 5199
http://sourceforge.net/p/obo/svn/5199
Author: cmungall
Date: 2014-08-22 00:27:17 +0000 (Fri, 22 Aug 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-08-21/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-08-21 08:02:36
|
Revision: 5197
http://sourceforge.net/p/obo/svn/5197
Author: koehlers
Date: 2014-08-21 08:02:28 +0000 (Thu, 21 Aug 2014)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/jarFiles/generateAnnotationFile.jar
===================================================================
(Binary files differ)
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2014-08-19 18:27:01 UTC (rev 5196)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2014-08-21 08:02:28 UTC (rev 5197)
@@ -30,11 +30,11 @@
# in external_ontologies. We also ignore lines starting with #
cd $(EXTERNAL_ORPHANET) ; cat ../external_orphanet.txt | sed "/^#.*$$/d" | wget --retry-connrefused -N -i -
# loads the mapping between orphanet's signs-and-symptoms and HPO
- svn export http://compbio.charite.de/svn/hpo/trunk/src/mappings/ $(ORPHANET_MAPPING)
+ svn --force export http://compbio.charite.de/svn/hpo/trunk/src/mappings/ $(ORPHANET_MAPPING)
# loads the HPO
wget -N -P $(HPO_FOLDER) http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
mv $(HPO_FOLDER)/hp.obo $(HPO_FOLDER)/human-phenotype-ontology.obo
- #svn export http://compbio.charite.de/svn/hpo/trunk/src/ontology/ $(HPO_FOLDER)
+ #svn --force export http://compbio.charite.de/svn/hpo/trunk/src/ontology/ $(HPO_FOLDER)
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-08-19 18:27:05
|
Revision: 5196
http://sourceforge.net/p/obo/svn/5196
Author: cmungall
Date: 2014-08-19 18:27:01 +0000 (Tue, 19 Aug 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-08-18/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-08-04 13:45:22
|
Revision: 5194
http://sourceforge.net/p/obo/svn/5194
Author: koehlers
Date: 2014-08-04 13:45:13 +0000 (Mon, 04 Aug 2014)
Log Message:
-----------
annotation updates
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176920.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185070.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-243150.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269400.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601552.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608423.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611819.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612954.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613485.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613677.tab
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615872.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615885.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615887.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-114300.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -22,3 +22,10 @@
OMIM:114300 GORDON SYNDROME HP:0009698 Contractures of the proximal interphalangeal joints of the fingers IEA IEA OMIM:114300 HPO 17.02.2009
OMIM:114300 GORDON SYNDROME HP:0009803 Hypoplastic/small phalanges of the hand IEA IEA OMIM:114300 HPO 17.02.2009
OMIM:114300 GORDON SYNDROME HP:0010554 Cutaneous syndactyly of the fingers IEA IEA OMIM:114300 HPO 17.02.2009
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0000767 Pectus excavatum IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > PECTUS EXCAVATUM OMIM:114300 HPO:skoehler 03.08.2014
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0000602 Ophthalmoplegia IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > OPHTHALMOPLEGIA (IN SOME PATIENTS) OMIM:114300 HPO:skoehler 03.08.2014
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0000324 Facial asymmetry IEA IEA MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL ASYMMETRY (MILD) OMIM:114300 HPO:skoehler 03.08.2014
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0000347 Micrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > MICROGNATHIA OMIM:114300 HPO:skoehler 03.08.2014
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0000218 High palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:114300 HPO:skoehler 03.08.2014
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0001845 Overlapping toe IEA IEA OMIM-CS:SKELETAL_FEET > OVERLAPPING TOES OMIM:114300 HPO:skoehler 03.08.2014
+OMIM:114300 #114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3;;GORDON SYNDROME;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;;CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT HP:0002944 Thoracolumbar scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > THORACOLUMBAR SCOLIOSIS OMIM:114300 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176920.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176920.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -27,3 +27,4 @@
OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > LOW NASAL BRIDGE OMIM:176920 HPO:skoehler 11.07.2014
OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0002753 Thin bony cortex IEA IEA OMIM-CS:SKELETAL_LIMBS > THIN CORTICES OMIM:176920 HPO:skoehler 11.07.2014
OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0000962 Hyperkeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0012721 Venous malformation IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > VENOUS MALFORMATIONS OMIM:176920 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185070.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185070.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185070.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -7,3 +7,14 @@
OMIM:185070 STORMORKEN SYNDROME HP:0003750 Increased muscle fatiguability IEA IEA OMIM:185070 HPO 17.02.2009
OMIM:185070 STORMORKEN SYNDROME HP:0008064 Ichthyosiform abnormality of the skin IEA IEA OMIM:185070 HPO 17.02.2009
OMIM:185070 STORMORKEN SYNDROME HP:0010522 Dyslexia IEA IEA OMIM:185070 HPO:skoehler 18.06.2010
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0000490 Deeply set eye IEA IEA OMIM-CS:HEAD AND NECK_EYES > DEEP-SET EYES OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0000601 Hypotelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPOTELORISM OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0000421 Epistaxis IEA IEA OMIM-CS:HEAD AND NECK_NOSE > EPISTAXIS OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0000448 Prominent nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > PROMINENT NOSE OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0001903 Anemia IEA IEA OMIM-CS:HEMATOLOGY > ANEMIA OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0001873 Thrombocytopenia IEA IEA OMIM-CS:HEMATOLOGY > THROMBOCYTOPENIA OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0003236 Elevated serum creatine phosphokinase IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0003326 Myalgia IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE PAIN OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0003198 Myopathy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MYOPATHY OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0003701 Proximal muscle weakness IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > PROXIMAL MUSCLE WEAKNESS OMIM:185070 HPO:skoehler 03.08.2014
+OMIM:185070 #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS HP:0002401 Stroke-like episodes IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > STROKE-LIKE EPISODES (IN SOME PATIENTS) OMIM:185070 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233400.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-233400.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -20,4 +20,5 @@
OMIM:233400 #233400 PERRAULT SYNDROME 1; PRLTS1;;OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS;;GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS HP:0007141 Sensorimotor neuropathy IEA IEA rare OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > SENSORIMOTOR PERIPHERAL NEUROPATHY (IN SOME) OMIM:233400 HPO:skoehler 03.12.2012
OMIM:233400 #233400 PERRAULT SYNDROME 1; PRLTS1;;OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS;;GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS HP:0001761 Pes cavus IEA IEA OMIM-CS:SKELETAL_FEET > PES CAVUS OMIM:233400 HPO:skoehler 03.12.2012
OMIM:233400 #233400 PERRAULT SYNDROME 1; PRLTS1;;OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS;;GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:233400 HPO:skoehler 03.12.2012
-
+OMIM:233400 #233400 PERRAULT SYNDROME 1; PRLTS1;;OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS;;GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS HP:0001272 Cerebellar atrophy IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY (IN SOME PATIENTS) OMIM:233400 HPO:skoehler 03.08.2014
+OMIM:233400 #233400 PERRAULT SYNDROME 1; PRLTS1;;OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS;;GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS HP:0001260 Dysarthria IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA (IN SOME PATIENTS) OMIM:233400 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-243150.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-243150.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-243150.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -7,3 +7,4 @@
OMIM:243150 #243150 INTESTINAL ATRESIA, MULTIPLE; MINAT;;FAMILIAL INTESTINAL POLYATRESIA SYNDROME; FIPA HP:0001629 Ventricular septal defect IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT (RARE) OMIM:243150 HPO:skoehler 31.05.2013
OMIM:243150 #243150 INTESTINAL ATRESIA, MULTIPLE; MINAT;;FAMILIAL INTESTINAL POLYATRESIA SYNDROME; FIPA HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION OMIM:243150 HPO:skoehler 31.05.2013
OMIM:243150 #243150 INTESTINAL ATRESIA, MULTIPLE; MINAT;;FAMILIAL INTESTINAL POLYATRESIA SYNDROME; FIPA HP:0001561 Polyhydramnios IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_AMNIOTIC FLUID > POLYHYDRAMNIOS OMIM:243150 HPO:skoehler 31.05.2013
+OMIM:243150 #243150 INTESTINAL ATRESIA, MULTIPLE; MINAT;;FAMILIAL INTESTINAL POLYATRESIA SYNDROME; FIPA HP:0000778 Hypoplasia of the thymus IEA IEA rare OMIM-CS:IMMUNOLOGY > THYMUS HYPOPLASIA (IN SOME PATIENTS) OMIM:243150 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269400.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269400.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-269400.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -2,3 +2,9 @@
OMIM:269400 SCLEROCORNEA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:269400 HPO 17.02.2009
OMIM:269400 SCLEROCORNEA HP:0000356 Abnormality of the outer ear IEA IEA OMIM:269400 HPO 17.02.2009
OMIM:269400 SCLEROCORNEA HP:0000647 Sclerocornea IEA IEA OMIM:269400 HPO 17.02.2009
+OMIM:269400 #269400 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;;SCLEROCORNEA WITH OTHER OCULAR ANOMALIES HP:0007700 Anterior segment dysgenesis IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > ANTERIOR SEGMENT DYSGENESIS (IN SOME PATIENTS) OMIM:269400 HPO:skoehler 03.08.2014
+OMIM:269400 #269400 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;;SCLEROCORNEA WITH OTHER OCULAR ANOMALIES HP:0000557 Buphthalmos IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > BUPHTHALMOS (IN SOME PATIENTS) OMIM:269400 HPO:skoehler 03.08.2014
+OMIM:269400 #269400 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;;SCLEROCORNEA WITH OTHER OCULAR ANOMALIES HP:0000518 Cataract IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > CATARACT (IN SOME PATIENTS) OMIM:269400 HPO:skoehler 03.08.2014
+OMIM:269400 #269400 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;;SCLEROCORNEA WITH OTHER OCULAR ANOMALIES HP:0007906 Increased intraocular pressure IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > INCREASED INTRAOCULAR PRESSURE (IN SOME PATIENTS) OMIM:269400 HPO:skoehler 03.08.2014
+OMIM:269400 #269400 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;;SCLEROCORNEA WITH OTHER OCULAR ANOMALIES HP:0000482 Microcornea IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > MICROCORNEA (IN SOME PATIENTS) OMIM:269400 HPO:skoehler 03.08.2014
+OMIM:269400 #269400 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;;SCLEROCORNEA WITH OTHER OCULAR ANOMALIES HP:0000568 Microphthalmos IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA (IN SOME PATIENTS) OMIM:269400 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311900.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-311900.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -5,3 +5,30 @@
OMIM:311900 TARP SYNDROME HP:0001417 X-linked inheritance IEA IEA OMIM:311900 HPO 17.02.2009
OMIM:311900 TARP SYNDROME HP:0001762 Talipes equinovarus IEA IEA OMIM:311900 HPO 17.02.2009
OMIM:311900 TARP SYNDROME HP:0002564 Malformation of the heart and great vessels IEA IEA OMIM:311900 HPO 17.02.2009
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0001636 Tetralogy of Fallot IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > TETRALOGY OF FALLOT (RARE) OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000879 Short sternum IEA IEA rare OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > SHORT STERNUM (RARE) OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000085 Horseshoe kidney IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > HORSESHOE KIDNEY OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000126 Hydronephrosis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > HYDRONEPHROSIS OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0001508 Failure to thrive IEA IEA OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:GROWTH_OTHER > INTRAUTERINE GROWTH RETARDATION OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000369 Low-set ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > POSTERIORLY ROTATED EARS OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000395 Prominent antihelix IEA IEA OMIM-CS:HEAD AND NECK_EARS > PROMINENT ANTIHELIX OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0008551 Microtia IEA IEA OMIM-CS:HEAD AND NECK_EARS > SMALL EARS OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000648 Optic atrophy IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > OPTIC ATROPHY (RARE) OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > SHORT PALPEBRAL FISSURES OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0009891 Underdeveloped supraorbital ridges IEA IEA OMIM-CS:HEAD AND NECK_EYES > UNDERDEVELOPED SUPRAORBITAL RIDGES OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000218 High palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000199 Tongue nodules IEA IEA rare OMIM-CS:HEAD AND NECK_MOUTH > TONGUE NODULES (RARE) OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000463 Anteverted nares IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NARES OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > WIDE NASAL BRIDGE OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0001273 Abnormality of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ABNORMAL CORPUS CALLOSUM OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR HYPOPLASIA OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0001320 Cerebellar vermis hypoplasia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR VERMIS HYPOPLASIA OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0100259 Postaxial polydactyly IEA IEA rare OMIM-CS:SKELETAL_FEET > POSTAXIAL POLYDACTYLY (RARE) OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0012725 Cutaneous syndactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CUTANEOUS SYNDACTYLY OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0006191 Deep palmar crease IEA IEA OMIM-CS:SKELETAL_HANDS > DEEP PALMAR CREASE OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000954 Single transverse palmar crease IEA IEA OMIM-CS:SKELETAL_HANDS > SINGLE PALMAR CREASE OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0002984 Hypoplasia of the radius IEA IEA MODIFIER:PROXIMAL;OMIM-CS:SKELETAL_LIMBS > SHORT RADII, PROXIMAL OMIM:311900 HPO:skoehler 03.08.2014
+OMIM:311900 #311900 TARP SYNDROME; TARPS;;TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCEOF LEFT SUPERIOR VENA CAVA;;PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT HP:0000239 Large fontanelles IEA IEA OMIM-CS:SKELETAL_SKULL > LARGE FONTANELS OMIM:311900 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601552.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601552.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601552.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -6,3 +6,7 @@
OMIM:601552 ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM HP:0001089 Iris atrophy IEA IEA OMIM:601552 HPO:skoehler 20.06.2010
OMIM:601552 ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM HP:0002260 Craniofacial dysmorphism IEA IEA OMIM:601552 HPO 17.02.2009
OMIM:601552 ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM HP:0003683 Large beaked nose IEA IEA OMIM:601552 HPO 17.02.2009
+OMIM:601552 #601552 FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS; FDLAB;;TRABOULSI SYNDROME;;ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM HP:0000278 Retrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > RETROGNATHIA OMIM:601552 HPO:skoehler 03.08.2014
+OMIM:601552 #601552 FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS; FDLAB;;TRABOULSI SYNDROME;;ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM HP:0000444 Convex nasal ridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BEAKED NOSE OMIM:601552 HPO:skoehler 03.08.2014
+OMIM:601552 #601552 FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS; FDLAB;;TRABOULSI SYNDROME;;ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM HP:0000445 Wide nose IEA IEA rare OMIM-CS:HEAD AND NECK_NOSE > BROAD NOSE (IN SOME PATIENTS) OMIM:601552 HPO:skoehler 03.08.2014
+OMIM:601552 #601552 FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS; FDLAB;;TRABOULSI SYNDROME;;ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM HP:0000448 Prominent nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > PROMINENT NOSE OMIM:601552 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608423.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608423.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608423.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -10,3 +10,9 @@
OMIM:608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F HP:0003749 Pelvic girdle muscle weakness IEA IEA OMIM:608423 HPO 17.02.2009
OMIM:608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F HP:0003805 Rimmed vacuoles IEA IEA OMIM:608423 HPO 17.02.2009
OMIM:608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F HP:0003810 Late-onset distal muscle weakness IEA IEA OMIM:608423 HPO 17.02.2009
+OMIM:608423 #608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F HP:0003736 Autophagic vacuoles IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > AUTOPHAGIC VACUOLES OMIM:608423 HPO:skoehler 03.08.2014
+OMIM:608423 #608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F HP:0003687 Centrally nucleated skeletal muscle fibers IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > CENTRAL NUCLEI OMIM:608423 HPO:skoehler 03.08.2014
+OMIM:608423 #608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F HP:0009025 Increased connective tissue IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > INCREASED CONNECTIVE TISSUE OMIM:608423 HPO:skoehler 03.08.2014
+OMIM:608423 #608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA rare OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS (IN SOME PATIENTS) OMIM:608423 HPO:skoehler 03.08.2014
+OMIM:608423 #608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F HP:0001371 Flexion contracture IEA IEA rare OMIM-CS:SKELETAL > JOINT CONTRACTURES (IN SOME PATIENTS) OMIM:608423 HPO:skoehler 03.08.2014
+OMIM:608423 #608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F HP:0003306 Spinal rigidity IEA IEA rare OMIM-CS:SKELETAL_SPINE > RIGID SPINE (IN SOME PATIENTS) OMIM:608423 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611819.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611819.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-611819.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -4,3 +4,4 @@
OMIM:611819 #611819 LONG QT SYNDROME 10; LQT10 pmid:17060380 HP:0001645 Sudden cardiac death PCS PCS pmid:17592081 HPO:probinson Apr 3, 2013
OMIM:611819 #611819 LONG QT SYNDROME 10; LQT10 pmid:17060380 HP:0001678 Atrioventricular block PCS PCS pmid:17592081 HPO:probinson Apr 3, 2013
OMIM:611819 #611819 LONG QT SYNDROME 10; LQT10 pmid:17060380 HP:0012266 T-wave alternans PCS PCS pmid:17592081 HPO:probinson Apr 7, 2013
+OMIM:611819 #611819 LONG QT SYNDROME 10; LQT10ATRIAL FIBRILLATION, FAMILIAL, 17, INCLUDED; ATFB17, INCLUDED HP:0005110 Atrial fibrillation IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > ATRIAL FIBRILLATION (IN SOME PATIENTS) OMIM:611819 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612954.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612954.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612954.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -15,3 +15,8 @@
OMIM:612954 MYOPATHY, MYOFIBRILLAR, BAG3-RELATED HP:0009074 Diffuse amyotrophy IEA IEA OMIM:612954 HPO:skoehler 19.06.2010
OMIM:612954 #612954 MYOPATHY, MYOFIBRILLAR 6, MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED HP:0003715 Myofibrillar myopathy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MYOFIBRILLAR MYOPATHY OMIM:612954 HPO:skoehler 17.10.2012
OMIM:612954 #612954 MYOPATHY, MYOFIBRILLAR 6, MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED HP:0003306 Spinal rigidity IEA IEA OMIM-CS:SKELETAL_SPINE > RIGID SPINE OMIM:612954 HPO:skoehler 17.10.2012
+OMIM:612954 #612954 MYOPATHY, MYOFIBRILLAR, 6; MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED HP:0010628 Facial palsy IEA IEA OMIM-CS:HEAD AND NECK_FACE > FACIAL WEAKNESS OMIM:612954 HPO:skoehler 03.08.2014
+OMIM:612954 #612954 MYOPATHY, MYOFIBRILLAR, 6; MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED HP:0003447 Axonal loss IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AXONAL LOSS OMIM:612954 HPO:skoehler 03.08.2014
+OMIM:612954 #612954 MYOPATHY, MYOFIBRILLAR, 6; MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED HP:0002936 Distal sensory impairment IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > DISTAL SENSORY IMPAIRMENT OMIM:612954 HPO:skoehler 03.08.2014
+OMIM:612954 #612954 MYOPATHY, MYOFIBRILLAR, 6; MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > HYPOREFLEXIA OMIM:612954 HPO:skoehler 03.08.2014
+OMIM:612954 #612954 MYOPATHY, MYOFIBRILLAR, 6; MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED HP:0001761 Pes cavus IEA IEA OMIM-CS:SKELETAL_FEET > PES CAVUS OMIM:612954 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613485.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613485.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613485.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -3,3 +3,10 @@
OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 KCNJ5 HP:0001657 Prolonged QT interval IEA IEA OMIM:613485 HPO:probinson Jun 2, 2013
OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 KCNJ5 HP:0001279 Syncope IEA IEA OMIM:613485 HPO:probinson Jun 2, 2013
OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 KCNJ5 HP:0005110 Atrial fibrillation IEA IEA OMIM:613485 HPO:probinson Jun 2, 2013
+OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 HP:0001678 Atrioventricular block IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > ATRIOVENTRICULAR BLOCK OMIM:613485 HPO:skoehler 03.08.2014
+OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 HP:0001695 Cardiac arrest IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > CARDIAC ARREST OMIM:613485 HPO:skoehler 03.08.2014
+OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 HP:0001635 Congestive heart failure IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > HEART FAILURE OMIM:613485 HPO:skoehler 03.08.2014
+OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 HP:0004757 Paroxysmal atrial fibrillation IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > PAROXYSMAL ATRIAL FIBRILLATION OMIM:613485 HPO:skoehler 03.08.2014
+OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 HP:0001677 Coronary artery disease IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > CORONARY ARTERY DISEASE OMIM:613485 HPO:skoehler 03.08.2014
+OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 HP:0000822 Hypertension IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > HYPERTENSION OMIM:613485 HPO:skoehler 03.08.2014
+OMIM:613485 #613485 LONG QT SYNDROME 13; LQT13 HP:0002204 Pulmonary embolism IEA IEA OMIM-CS:RESPIRATORY_LUNG > PULMONARY EMBOLISM OMIM:613485 HPO:skoehler 03.08.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613677.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613677.tab 2014-08-03 02:09:42 UTC (rev 5193)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-613677.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -4,3 +4,9 @@
OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III KCNJ5 HP:0003351 Decreased circulating renin level TAS TAS OMIM:613677 HPO:probinson Jun 2, 2013
OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III KCNJ5 HP:0008221 Adrenal hyperplasia TAS TAS OMIM:613677 HPO:probinson Jun 2, 2013
OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III KCNJ5 HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:613677 HPO:probinson Jun 2, 2013
+OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III HP:0002150 Hypercalciuria IEA IEA rare OMIM-CS:GENITOURINARY_KIDNEYS > HYPERCALCIURIA (IN SOME PATIENTS) OMIM:613677 HPO:skoehler 03.08.2014
+OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III HP:0000103 Polyuria IEA IEA rare OMIM-CS:GENITOURINARY_KIDNEYS > POLYURIA (IN SOME PATIENTS) OMIM:613677 HPO:skoehler 03.08.2014
+OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III HP:0002150 Hypercalciuria IEA IEA rare OMIM-CS:LABORATORY ABNORMALITIES > HYPERCALCIURIA (IN SOME PATIENTS) OMIM:613677 HPO:skoehler 03.08.2014
+OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III HP:0002900 Hypokalemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPOKALEMIA OMIM:613677 HPO:skoehler 03.08.2014
+OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III HP:0001942 Metabolic acidosis IEA IEA rare OMIM-CS:METABOLIC FEATURES > METABOLIC ACIDOSIS (IN SOME PATIENTS) OMIM:613677 HPO:skoehler 03.08.2014
+OMIM:613677 #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III HP:0001959 Polydipsia IEA IEA rare OMIM-CS:METABOLIC FEATURES > POLYDIPSIA (IN SOME PATIENTS) OMIM:613677 HPO:skoehler 03.08.2014
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615872.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615872.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615872.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -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
+OMIM:615872 #615872 CILIARY DYSKINESIA, PRIMARY, 29; CILD29;;CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS HP:0001696 Situs inversus totalis IEA IEA NOT NOT OMIM-CS:ABDOMEN > NO SITUS INVERSUS OMIM:615872 HPO:skoehler 03.08.2014
+OMIM:615872 #615872 CILIARY DYSKINESIA, PRIMARY, 29; CILD29;;CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS HP:0000789 Infertility IEA IEA rare OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > INFERTILITY (IN SOME PATIENTS) OMIM:615872 HPO:skoehler 03.08.2014
+OMIM:615872 #615872 CILIARY DYSKINESIA, PRIMARY, 29; CILD29;;CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615872 HPO:skoehler 03.08.2014
+OMIM:615872 #615872 CILIARY DYSKINESIA, PRIMARY, 29; CILD29;;CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS HP:0100750 Atelectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > ATELECTASIS OMIM:615872 HPO:skoehler 03.08.2014
+OMIM:615872 #615872 CILIARY DYSKINESIA, PRIMARY, 29; CILD29;;CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > BRONCHIECTASIS OMIM:615872 HPO:skoehler 03.08.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615872.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615885.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615885.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615885.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -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
+OMIM:615885 #615885 HYPOTRICHOSIS 12; HYPT12 HP:0100840 Aplasia/Hypoplasia of the eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > SPARSE OR ABSENT EYEBROWS OMIM:615885 HPO:skoehler 03.08.2014
+OMIM:615885 #615885 HYPOTRICHOSIS 12; HYPT12 HP:0200102 Sparse/absent eyelashes IEA IEA OMIM-CS:HEAD AND NECK_EYES > SPARSE OR ABSENT EYELASHES OMIM:615885 HPO:skoehler 03.08.2014
+OMIM:615885 #615885 HYPOTRICHOSIS 12; HYPT12 HP:0000971 Abnormality of the sweat gland IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NORMAL SWEATING OMIM:615885 HPO:skoehler 03.08.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615885.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615887.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615887.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615887.tab 2014-08-04 13:45:13 UTC (rev 5194)
@@ -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
+OMIM:615887 #615887 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5 HP:0000705 Amelogenesis imperfecta IEA IEA OMIM-CS:HEAD AND NECK_TEETH > AMELOGENESIS IMPERFECTA OMIM:615887 HPO:skoehler 03.08.2014
+OMIM:615887 #615887 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5 HP:0000670 Carious teeth IEA IEA OMIM-CS:HEAD AND NECK_TEETH > CARIES OMIM:615887 HPO:skoehler 03.08.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615887.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-08-03 02:09:52
|
Revision: 5193
http://sourceforge.net/p/obo/svn/5193
Author: cmungall
Date: 2014-08-03 02:09:42 +0000 (Sun, 03 Aug 2014)
Log Message:
-----------
experimental
Added Paths:
-----------
uberon/trunk/void.ttl
Added: uberon/trunk/void.ttl
===================================================================
--- uberon/trunk/void.ttl (rev 0)
+++ uberon/trunk/void.ttl 2014-08-03 02:09:42 UTC (rev 5193)
@@ -0,0 +1,68 @@
+@prefix void: <http://rdfs.org/ns/void#> .
+@prefix lib: <http://www.swi-prolog.org/rdf/library/> .
+@prefix owl: <http://www.w3.org/2002/07/owl#> .
+@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
+@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
+@prefix dcterms: <http://purl.org/dc/terms/> .
+@prefix foaf: <http://xmlns.com/foaf/0.1/> .
+@prefix obo: <http://purl.obolibrary.org/obo/> .
+@prefix uberon: <http://purl.obolibrary.org/obo/UBERON_> .
+@prefix u: <http://purl.obolibrary.org/obo/uberon/> .
+@prefix bridge: <http://purl.obolibrary.org/obo/uberon/bridge/> .
+@prefix bm: <http://ontology.neuinfo.org/NIF/BiomaterialEntities/> .
+@prefix : <http://purl.obolibrary.org/obo/uberon/> .
+
+u:ext.owl
+ a void:Dataset ;
+ dcterms:title "uberon/ext" ;
+ void:dataDump <ext.owl> ;
+ lib:source <http://purl.obolibrary.org/obo/uberon/ext.owl> .
+
+#u:uberon_bridges
+# a void:Dataset ;
+# void:subset u:uberon-bridge-to-nifstd.owl ;
+# void:subset u:uberon-bridge-to-zfa.owl ;
+# dcterms:title "all bridges" .
+
+u:uberon_bridges
+ a void:Dataset ;
+ void:subset <bridge/uberon-bridge-to-nifstd.owl> ;
+ void:subset <bridge/uberon-bridge-to-zfa.owl> ;
+ dcterms:title "all bridges" .
+
+<http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-nifstd.owl>
+ a void:Dataset ;
+ dcterms:title "bridge to nifstd" ;
+ void:dataDump <bridge/uberon-bridge-to-nifstd.owl> ;
+ lib:source <http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-nifstd.owl> .
+
+<http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-zfa.owl>
+ a void:Dataset ;
+ dcterms:title "bridge to ZFA" ;
+ void:dataDump <bridge/uberon-bridge-to-zfa.owl> ;
+ lib:source <http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-zfa.owl> .
+
+obo:cl.owl
+ a void:Dataset ;
+ dcterms:title "cl" ;
+ void:dataDump <cl.owl> ;
+ lib:source <http://purl.obolibrary.org/obo/cl.owl> .
+
+obo:uberon.owl
+ a void:Dataset ;
+ dcterms:title "uberon" ;
+ foaf:page <http://uberon.org> ;
+ void:dataDump <uberon.owl> ;
+ lib:source <http://purl.obolibrary.org/obo/uberon/> .
+
+:nif_cell
+ a void:Dataset ;
+ dcterms:title "NIF Cell" ;
+ void:dataDump <source-ontologies/NIF-Cell.owl> ;
+ lib:source <http://purl.obolibrary.org/obo/NIF-Cell/> .
+
+:nlx
+ a void:Dataset ;
+ dcterms:title "nlx" ;
+ void:dataDump <source-ontologies/nlx_stage_all.rdf> ;
+ lib:source <http://neurolex.org/> .
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-08-03 00:09:02
|
Revision: 5192
http://sourceforge.net/p/obo/svn/5192
Author: cmungall
Date: 2014-08-03 00:08:58 +0000 (Sun, 03 Aug 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-07-31/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-07-17 00:44:58
|
Revision: 5190
http://sourceforge.net/p/obo/svn/5190
Author: cmungall
Date: 2014-07-17 00:44:54 +0000 (Thu, 17 Jul 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-07-15/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <hei...@us...> - 2014-07-11 20:50:26
|
Revision: 5188
http://sourceforge.net/p/obo/svn/5188
Author: heikodietze
Date: 2014-07-11 20:50:16 +0000 (Fri, 11 Jul 2014)
Log Message:
-----------
more memory for taxslim generation
Modified Paths:
--------------
ncbitaxon/trunk/src/ontology/subsets/Makefile
Modified: ncbitaxon/trunk/src/ontology/subsets/Makefile
===================================================================
--- ncbitaxon/trunk/src/ontology/subsets/Makefile 2014-07-11 20:27:41 UTC (rev 5187)
+++ ncbitaxon/trunk/src/ontology/subsets/Makefile 2014-07-11 20:50:16 UTC (rev 5188)
@@ -5,7 +5,7 @@
all: taxslim taxslim-disjoint-over-in-taxon.owl
taxslim: taxon-subset-ids.txt
- OWLTOOLS_MEMORY=6G owltools ../ncbitaxon.obo --create-slim --output-owl taxslim.owl --output-obo taxslim.obo --old-obo taxslim.obo --iri http://purl.obolibrary.org/obo/ncbitaxon/subsets/taxslim.owl --ids taxon-subset-ids.txt
+ OWLTOOLS_MEMORY=8G owltools ../ncbitaxon.obo --create-slim --output-owl taxslim.owl --output-obo taxslim.obo --old-obo taxslim.obo --iri http://purl.obolibrary.org/obo/ncbitaxon/subsets/taxslim.owl --ids taxon-subset-ids.txt
taxslim-disjoint-over-in-taxon.owl: taxslim
owltools taxslim.owl --create-taxon-disjoint-over-in-taxon --root NCBITaxon:1
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <hei...@us...> - 2014-07-11 20:27:50
|
Revision: 5187
http://sourceforge.net/p/obo/svn/5187
Author: heikodietze
Date: 2014-07-11 20:27:41 +0000 (Fri, 11 Jul 2014)
Log Message:
-----------
update make file to use ncbi2owl and oort in path
Modified Paths:
--------------
ncbitaxon/trunk/src/ontology/Makefile
Modified: ncbitaxon/trunk/src/ontology/Makefile
===================================================================
--- ncbitaxon/trunk/src/ontology/Makefile 2014-07-11 17:45:42 UTC (rev 5186)
+++ ncbitaxon/trunk/src/ontology/Makefile 2014-07-11 20:27:41 UTC (rev 5187)
@@ -1,7 +1,6 @@
all: ncbitaxon.obo
-OWLTOOLS = ../../owltools
-JAR = $(OWLTOOLS)/ncbi2owl.jar
-OORT = $(OWLTOOLS)/ontology-release-runner
+NCBI_MEMORY=8G
+OORT_MEMORY=$(NCBI_MEMORY)
taxonomy.dat:
wget ftp://ftp.ebi.ac.uk/pub/databases/taxonomy/$@ -O $@.tmp && mv $@.tmp $@
@@ -10,11 +9,11 @@
wget ftp://ftp.ncbi.nih.gov/pub/taxonomy/$@ -O $@.tmp && mv $@.tmp $@
ncbitaxon.owl: taxonomy.dat taxdmp.zip
- java -Xmx8G -jar $(JAR) -t
+ NCBI_MEMORY=$(NCBI_MEMORY) ncbi2owl -t
.PRECIOUS: ncbitaxon.owl
ncbitaxon.obo: ncbitaxon.owl
- $(OORT) --ignoreLock --skip-release-folder --skip-format owx --skip-format owl --no-subsets --outdir . --simple --allow-overwrite --no-reasoner $<
+ OORT_MEMORY=$(OORT_MEMORY) ontology-release-runner --ignoreLock --skip-release-folder --skip-format owx --skip-format owl --no-subsets --outdir . --simple --allow-overwrite --no-reasoner $<
#ncbitaxon.owl: ncbitaxon-src.obo
# ontology-release-runner --allow-overwrite --outdir . --no-reasoner --asserted $<
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-07-11 17:45:44
|
Revision: 5186
http://sourceforge.net/p/obo/svn/5186
Author: cmungall
Date: 2014-07-11 17:45:42 +0000 (Fri, 11 Jul 2014)
Log Message:
-----------
new-release
Added Paths:
-----------
uberon/releases/2014-07-11/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-07-11 17:42:21
|
Revision: 5185
http://sourceforge.net/p/obo/svn/5185
Author: cmungall
Date: 2014-07-11 17:42:19 +0000 (Fri, 11 Jul 2014)
Log Message:
-----------
null
Modified Paths:
--------------
uberon/trunk/bridge/collected-eukaryote.owl
Modified: uberon/trunk/bridge/collected-eukaryote.owl
===================================================================
--- uberon/trunk/bridge/collected-eukaryote.owl 2014-07-11 16:19:42 UTC (rev 5184)
+++ uberon/trunk/bridge/collected-eukaryote.owl 2014-07-11 17:42:19 UTC (rev 5185)
@@ -32,4 +32,5 @@
<owl:imports rdf:resource="http://purl.obolibrary.org/obo/po.owl"/>
<owl:imports rdf:resource="http://purl.obolibrary.org/obo/ddanat.owl"/>
</owl:Ontology>
+
</rdf:RDF>
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|
|
From: <koe...@us...> - 2014-07-11 11:02:32
|
Revision: 5183
http://sourceforge.net/p/obo/svn/5183
Author: koehlers
Date: 2014-07-11 11:02:28 +0000 (Fri, 11 Jul 2014)
Log Message:
-----------
annotation updates for several entries. (hudson job)
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175780.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176920.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256520.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300850.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300896.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612529.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614921.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614947.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615512.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615516.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108600.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-108600.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -5,3 +5,12 @@
OMIM:108600 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT HP:0002354 Memory impairment IEA IEA OMIM:108600 HPO 17.02.2009
OMIM:108600 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT HP:0002497 Spastic ataxia IEA IEA OMIM:108600 HPO 17.02.2009
OMIM:108600 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT HP:0008969 Leg muscle stiffness IEA IEA OMIM:108600 HPO 17.02.2009
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0002015 Dysphagia IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > DYSPHAGIA OMIM:108600 HPO:skoehler 11.07.2014
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0000496 Abnormality of eye movement IEA IEA OMIM-CS:HEAD AND NECK_EYES > OCULAR MOVEMENT ABNORMALITIES OMIM:108600 HPO:skoehler 11.07.2014
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0000508 Ptosis IEA IEA OMIM-CS:HEAD AND NECK_EYES > PTOSIS OMIM:108600 HPO:skoehler 11.07.2014
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0000514 Slow saccadic eye movements IEA IEA OMIM-CS:HEAD AND NECK_EYES > SLOW SACCADES OMIM:108600 HPO:skoehler 11.07.2014
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0000605 Supranuclear gaze palsy IEA IEA OMIM-CS:HEAD AND NECK_EYES > SUPRANUCLEAR GAZE PALSY OMIM:108600 HPO:skoehler 11.07.2014
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001332 Dystonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA OMIM:108600 HPO:skoehler 11.07.2014
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001288 Gait disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT DISTURBANCES OMIM:108600 HPO:skoehler 11.07.2014
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001347 Hyperreflexia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPERREFLEXIA OMIM:108600 HPO:skoehler 11.07.2014
+OMIM:108600 #108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001761 Pes cavus IEA IEA OMIM-CS:SKELETAL_FEET > PES CAVUS OMIM:108600 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175780.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175780.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-175780.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -14,3 +14,7 @@
OMIM:175780 PORENCEPHALY, FAMILIAL HP:0002451 Limb dystonia IEA IEA OMIM:175780 HPO Feb 17, 2009
OMIM:175780 PORENCEPHALY, FAMILIAL HP:0003487 Babinski sign IEA IEA OMIM:175780 HPO:skoehler Jun 18, 2010
OMIM:175780 PORENCEPHALY, FAMILIAL HP:0003828 Variable expressivity IEA IEA OMIM:175780 HPO Feb 17, 2009
+OMIM:175780 #175780 PORENCEPHALY 1; POREN1;;HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1; T1P;;PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT; ADT1P HP:0001878 Hemolytic anemia IEA IEA OMIM-CS:HEMATOLOGY > HEMOLYTIC ANEMIA OMIM:175780 HPO:skoehler 11.07.2014
+OMIM:175780 #175780 PORENCEPHALY 1; POREN1;;HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1; T1P;;PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT; ADT1P HP:0003236 Elevated serum creatine phosphokinase IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE OMIM:175780 HPO:skoehler 11.07.2014
+OMIM:175780 #175780 PORENCEPHALY 1; POREN1;;HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1; T1P;;PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT; ADT1P HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY OMIM:175780 HPO:skoehler 11.07.2014
+OMIM:175780 #175780 PORENCEPHALY 1; POREN1;;HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1; T1P;;PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT; ADT1P HP:0010636 Schizencephaly IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SCHIZENCEPHALY OMIM:175780 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176920.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176920.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-176920.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -17,3 +17,13 @@
OMIM:176920 PROTEUS SYNDROME HP:0005465 Facial hyperostosis TAS TAS OMIM:176920 HPO:probinson Apr 30, 2012
OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0012032 Lipoma TAS TAS OMIM:176920 HPO:skoehler Oct 17, 2012
OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0100764 Lymphangioma TAS TAS OMIM:176920 HPO:skoehler Oct 17, 2012
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0001744 Splenomegaly IEA IEA OMIM-CS:ABDOMEN_SPLEEN > SPLENOMEGALY OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0002625 Deep venous thrombosis IEA IEA OMIM-CS:CARDIOVASCULAR_VASCULAR > DEEP VEIN THROMBOSIS OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:HEAD AND NECK_EYES > DOWNSLANTING PALPEBRAL FISSURES OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0000508 Ptosis IEA IEA OMIM-CS:HEAD AND NECK_EYES > PTOSIS OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0000276 Long face IEA IEA OMIM-CS:HEAD AND NECK_FACE > LONG FACE OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0000268 Dolichocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > DOLICHOCEPHALY OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0000194 Open mouth IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > OPEN MOUTH OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > LOW NASAL BRIDGE OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0002753 Thin bony cortex IEA IEA OMIM-CS:SKELETAL_LIMBS > THIN CORTICES OMIM:176920 HPO:skoehler 11.07.2014
+OMIM:176920 #176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED HP:0000962 Hyperkeratosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS OMIM:176920 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256520.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256520.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256520.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -46,3 +46,4 @@
OMIM:256520 %256520 NEU-LAXOVA SYNDROME; NLS HP:0011224 Ablepharon IEA IEA OMIM-CS:HEAD AND NECK_EYES > ABSENT EYELIDS OMIM:256520 HPO:skoehler Oct 17, 2012
OMIM:256520 %256520 NEU-LAXOVA SYNDROME; NLS HP:0005753 Limb shortening IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LIMBS OMIM:256520 HPO:skoehler Oct 17, 2012
OMIM:256520 %256520 NEU-LAXOVA SYNDROME; NLS HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:256520 HPO:skoehler Oct 22, 2013
+OMIM:256520 #256520 NEU-LAXOVA SYNDROME; NLS HP:0006266 Small placenta IEA IEA OMIM-CS:MISCELLANEOUS > SMALL PLACENTA OMIM:256520 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300850.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300850.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300850.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -1,3 +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
OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 DLG3 HP:0001249 Intellectual disability PCS PCS pmid:15185169 HPO:skoehler Jan 9, 2013
OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 DLG3 HP:0001417 X-linked inheritance PCS PCS pmid:15185169 HPO:skoehler Feb 16, 2013
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0000774 Narrow chest IEA IEA rare OMIM-CS:CHEST_EXTERNAL FEATURES > NARROW THORAX (1 FAMILY) OMIM:300850 HPO:skoehler 11.07.2014
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0000805 Enuresis IEA IEA OMIM-CS:GENITOURINARY_BLADDER > ENURESIS OMIM:300850 HPO:skoehler 11.07.2014
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:300850 HPO:skoehler 11.07.2014
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0000582 Upslanted palpebral fissure IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > UPSLANTING PALPEBRAL FISSURES (1 FAMILY) OMIM:300850 HPO:skoehler 11.07.2014
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0000218 High palate IEA IEA rare OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE (1 FAMILY) OMIM:300850 HPO:skoehler 11.07.2014
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0000708 Behavioral abnormality IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > BEHAVIORAL PROBLEMS OMIM:300850 HPO:skoehler 11.07.2014
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:300850 HPO:skoehler 11.07.2014
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED SPEECH DEVELOPMENT OMIM:300850 HPO:skoehler 11.07.2014
+OMIM:300850 #300850 MENTAL RETARDATION, X-LINKED 90; MRX90 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (1 PATIENT) OMIM:300850 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300896.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300896.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300896.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -12,3 +12,9 @@
OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, X-LINKED; CDGX HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:300896 HPO:skoehler 04.06.2013
OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, X-LINKED; CDGX HP:0002319 Thin corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THINNING OF THE CORPUS CALLOSUM OMIM:300896 HPO:skoehler 04.06.2013
OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M;;CDG IIm; CDGIIm HP:0012448 Delayed myelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION OMIM:300896 HPO:skoehler 28.11.2013
+OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M;;CDG IIm; CDGIIm;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22 HP:0000574 Thick eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > THICK EYEBROWS OMIM:300896 HPO:skoehler 11.07.2014
+OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M;;CDG IIm; CDGIIm;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22 HP:0000280 Coarse facial features IEA IEA OMIM-CS:HEAD AND NECK_FACE > COARSE FACIES OMIM:300896 HPO:skoehler 11.07.2014
+OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M;;CDG IIm; CDGIIm;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22 HP:0000194 Open mouth IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > OPEN MOUTH OMIM:300896 HPO:skoehler 11.07.2014
+OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M;;CDG IIm; CDGIIm;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22 HP:0012471 Thick vermilion border IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THICK LIPS OMIM:300896 HPO:skoehler 11.07.2014
+OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M;;CDG IIm; CDGIIm;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22 HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL BRIDGE OMIM:300896 HPO:skoehler 11.07.2014
+OMIM:300896 #300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M;;CDG IIm; CDGIIm;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EPILEPTIC ENCEPHALOPATHY OMIM:300896 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612529.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612529.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-612529.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -2,3 +2,4 @@
OMIM:612529 #612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2;;AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2 MMP20 HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:612529 HPO:probinson Jan 9, 2013
OMIM:612529 #612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2;;AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2 MMP20 HP:0000682 Abnormality of dental enamel TAS TAS OMIM:612529 HPO:probinson Mar 12, 2013
OMIM:612529 #612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2;;AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2 MMP20 HP:0000705 Amelogenesis imperfecta TAS TAS OMIM:612529 HPO:probinson Mar 12, 2013
+OMIM:612529 #612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2;;AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2 HP:0200095 Anterior open bite IEA IEA rare OMIM-CS:HEAD AND NECK_TEETH > ANTERIOR OPEN BITE (IN SOME PATIENTS) OMIM:612529 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614921.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614921.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614921.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -12,3 +12,12 @@
OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt HP:0003236 Elevated serum creatine phosphokinase IEA IEA rare OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE (1 PATIENT) OMIM:614921 HPO:skoehler 25.11.2012
OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt HP:0002094 Dyspnea IEA IEA rare OMIM-CS:RESPIRATORY > DYSPNEA (1 PATIENT) OMIM:614921 HPO:skoehler 25.11.2012
OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt HP:0012378 Fatigue IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > FATIGUE (1 PATIENT) OMIM:614921 HPO:skoehler 22.10.2013
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0012115 Hepatitis IEA IEA MODIFIER:CHRONIC;OMIM-CS:ABDOMEN_LIVER > HEPATITIS, CHRONIC OMIM:614921 HPO:skoehler 11.07.2014
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0001397 Hepatic steatosis IEA IEA OMIM-CS:ABDOMEN_LIVER > STEATOSIS OMIM:614921 HPO:skoehler 11.07.2014
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0000823 Delayed puberty IEA IEA OMIM-CS:ENDOCRINE > DELAYED PUBERTY OMIM:614921 HPO:skoehler 11.07.2014
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:614921 HPO:skoehler 11.07.2014
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0000193 Bifid uvula IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > BIFID UVULA OMIM:614921 HPO:skoehler 11.07.2014
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0001943 Hypoglycemia IEA IEA MODIFIER:EPISODIC;OMIM-CS:METABOLIC > HYPOGLYCEMIA, EPISODIC OMIM:614921 HPO:skoehler 11.07.2014
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0003546 Exercise intolerance IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > EXERCISE INTOLERANCE OMIM:614921 HPO:skoehler 11.07.2014
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0001324 Muscle weakness IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS OMIM:614921 HPO:skoehler 11.07.2014
+OMIM:614921 #614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T;;CDG It; CDGIt;;PHOSPHOGLUCOMUTASE 1 DEFICIENCY;;PGM1 DEFICIENCY;;GLYCOGEN STORAGE DISEASE XIV; GSD14;;GSD XIV HP:0003201 Rhabdomyolysis IEA IEA rare OMIM-CS:MUSCLE, SOFT TISSUE > RHABDOMYOLYSIS (IN SOME PATIENTS) OMIM:614921 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614947.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614947.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-614947.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -18,3 +18,7 @@
OMIM:614947 #614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 HP:0004322 Short stature IEA IEA rare OMIM-CS:GROWTH_HEIGHT > SHORT STATURE (IN SOME PATIENTS) OMIM:614947 HPO:skoehler 04.05.2014
OMIM:614947 #614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 HP:0100543 Cognitive impairment IEA IEA MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD OMIM:614947 HPO:skoehler 04.05.2014
OMIM:614947 #614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 HP:0001337 Tremor IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR (IN SOME PATIENTS) OMIM:614947 HPO:skoehler 04.05.2014
+OMIM:614947 #614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 HP:0001629 Ventricular septal defect IEA IEA rare OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR SEPTAL DEFECT (IN SOME PATIENTS) OMIM:614947 HPO:skoehler 11.07.2014
+OMIM:614947 #614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 HP:0000639 Nystagmus IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS (IN SOME PATIENTS) OMIM:614947 HPO:skoehler 11.07.2014
+OMIM:614947 #614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 HP:0000252 Microcephaly IEA IEA rare OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (IN SOME PATIENTS) OMIM:614947 HPO:skoehler 11.07.2014
+OMIM:614947 #614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 HP:0002317 Unsteady gait IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT INSTABILITY OMIM:614947 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615512.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615512.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615512.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -9,3 +9,14 @@
OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0003198 Myopathy IEA IEA OMIM-CS:MUSCLE > MYOPATHY OMIM:615512 HPO:skoehler 28.11.2013
OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEURO > DEVELOPMENTAL RETARDATION OMIM:615512 HPO:skoehler 28.11.2013
OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0000952 Jaundice IEA IEA OMIM-CS:SKIN > JAUNDICE OMIM:615512 HPO:skoehler 28.11.2013
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0000543 Optic disc pallor IEA IEA rare OMIM-CS:HEAD AND NECK_EYES > PALE OPTIC DISCS (1 FAMILY) OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0003202 Amyotrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0001324 Muscle weakness IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0001332 Dystonia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSTONIA OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0002317 Unsteady gait IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT INSTABILITY OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0001337 Tremor IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0009830 Peripheral neuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL NEUROPATHY OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS OMIM:615512 HPO:skoehler 11.07.2014
+OMIM:615512 #615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID HP:0002808 Kyphosis IEA IEA OMIM-CS:SKELETAL_SPINE > KYPHOSIS OMIM:615512 HPO:skoehler 11.07.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615516.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615516.tab 2014-07-11 11:00:12 UTC (rev 5182)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615516.tab 2014-07-11 11:02:28 UTC (rev 5183)
@@ -7,3 +7,10 @@
OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615516 HPO:skoehler 28.01.2014
OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0002317 Unsteady gait IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT INSTABILITY OMIM:615516 HPO:skoehler 28.01.2014
OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615516 HPO:skoehler 28.01.2014
+OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:615516 HPO:skoehler 11.07.2014
+OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0000303 Mandibular prognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROGNATHISM OMIM:615516 HPO:skoehler 11.07.2014
+OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0001357 Plagiocephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > PLAGIOCEPHALY OMIM:615516 HPO:skoehler 11.07.2014
+OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0000189 Narrow palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > NARROW PALATE OMIM:615516 HPO:skoehler 11.07.2014
+OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0000752 Hyperactivity IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > HYPERACTIVITY OMIM:615516 HPO:skoehler 11.07.2014
+OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0001250 Seizures IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES (IN SOME PATIENTS) OMIM:615516 HPO:skoehler 11.07.2014
+OMIM:615516 #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 HP:0001852 Sandal gap IEA IEA OMIM-CS:SKELETAL_FEET > SANDAL GAP OMIM:615516 HPO:skoehler 11.07.2014
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...> - 2014-07-11 11:00:15
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Revision: 5182
http://sourceforge.net/p/obo/svn/5182
Author: koehlers
Date: 2014-07-11 11:00:12 +0000 (Fri, 11 Jul 2014)
Log Message:
-----------
added new entries found in omim.txt (hudson job)
Added Paths:
-----------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -0,0 +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
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000486 Strabismus IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRABISMUS OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000506 Telecanthus IEA IEA OMIM-CS:HEAD AND NECK_EYES > TELECANTHUS OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000175 Cleft palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000218 High palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000161 Median cleft lip IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > MEDIAN CLEFT LIP OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000456 Bifid nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BIFID NASAL TIP OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0005349 Hypoplasia of the epiglottis IEA IEA OMIM-CS:RESPIRATORY_LARYNX > HYPOPLASTIC EPIGLOTTIS OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0002100 Recurrent aspiration pneumonia IEA IEA OMIM-CS:RESPIRATORY_LUNG > RECURRENT ASPIRATION PNEUMONIA OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0001159 Syndactyly IEA IEA OMIM-CS:SKELETAL_FEET > SYNDACTYLY OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0010442 Polydactyly IEA IEA OMIM-CS:SKELETAL_HANDS > POLYDACTYLY OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0001159 Syndactyly IEA IEA OMIM-CS:SKELETAL_HANDS > SYNDACTYLY OMIM:300484 HPO:skoehler 11.07.2014
+OMIM:300484 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8;;OFDS VIII;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;;ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;;EDWARDS SYNDROME HP:0005736 Short tibia IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT TIBIAE OMIM:300484 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300484.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -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
+OMIM:300615 #300615 BRUNNER SYNDROME HP:0000717 Autism IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AUTISM OMIM:300615 HPO:skoehler 11.07.2014
+OMIM:300615 #300615 BRUNNER SYNDROME HP:0001270 Motor delay IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:300615 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300615.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -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
+OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY OMIM:615075 HPO:skoehler 11.07.2014
+OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > THIN UPPER LIP OMIM:615075 HPO:skoehler 11.07.2014
+OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615075 HPO:skoehler 11.07.2014
+OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOPLASTIC CORPUS CALLOSUM OMIM:615075 HPO:skoehler 11.07.2014
+OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY OMIM:615075 HPO:skoehler 11.07.2014
+OMIM:615075 #615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 HP:0001264 Spastic diplegia IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC DIPLEGIA, PROGRESSIVE OMIM:615075 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615075.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -0,0 +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:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > FEEDING PROBLEMS OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000407 Sensorineural hearing impairment IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL HEARING LOSS (1 FAMILY) OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000518 Cataract IEA IEA OMIM-CS:HEAD AND NECK_EYES > CATARACT OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000589 Coloboma IEA IEA OMIM-CS:HEAD AND NECK_EYES > COLOBOMA OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000505 Visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001090 Large eyes IEA IEA OMIM-CS:HEAD AND NECK_EYES > LARGE EYES OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000568 Microphthalmos IEA IEA OMIM-CS:HEAD AND NECK_EYES > MICROPHTHALMIA OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000252 Microcephaly IEA IEA OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROGRESSIVE (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002421 Poor head control IEA IEA OMIM-CS:HEAD AND NECK_HEAD > POOR HEAD CONTROL OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0003236 Elevated serum creatine phosphokinase IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0003560 Muscular dystrophy IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > MUSCULAR DYSTROPHY OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001339 Lissencephaly IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AGYRIA (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002365 Hypoplasia of the brainstem IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BRAINSTEM HYPOPLASIA (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001321 Cerebellar hypoplasia IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR HYPOPLASIA (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0000238 Hydrocephalus IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS (1 PATIENT) OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002465 Poor speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POOR SPEECH OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001263 Global developmental delay IEA IEA MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:615249 HPO:skoehler 11.07.2014
+OMIM:615249 #615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12; MDDGA12;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:615249 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615249.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -0,0 +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:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000793 Membranoproliferative glomerulonephritis IEA IEA rare OMIM-CS:GENITOURINARY_KIDNEYS > MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS (IN SOME PATIENTS) OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000405 Conductive hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, CONDUCTIVE OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000218 High palate IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > HIGH-ARCHED PALATE OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0003193 Allergic rhinitis IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ALLERGIC RHINITIS OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001878 Hemolytic anemia IEA IEA rare OMIM-CS:HEMATOLOGY > HEMOLYTIC ANEMIA (IN SOME PATIENTS) OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > IMMUNE DEFICIENCY OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001888 Lymphopenia IEA IEA OMIM-CS:IMMUNOLOGY > LYMPHOPENIA OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001875 Neutropenia IEA IEA OMIM-CS:IMMUNOLOGY > NEUTROPENIA OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001251 Ataxia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001260 Dysarthria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0003474 Sensory impairment IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > SENSORY IMPAIRMENT OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002099 Asthma IEA IEA OMIM-CS:RESPIRATORY > ASTHMA OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > BRONCHIECTASIS OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0002650 Scoliosis IEA IEA OMIM-CS:SKELETAL_SPINE > SCOLIOSIS OMIM:615816 HPO:skoehler 11.07.2014
+OMIM:615816 #615816 IMMUNODEFICIENCY 23; IMD23;;IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;;IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS HP:0000964 Eczema IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > DERMATITIS OMIM:615816 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615816.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -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
+OMIM:615817 #615817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43 HP:0004322 Short stature IEA IEA OMIM-CS:GROWTH_HEIGHT > SHORT STATURE OMIM:615817 HPO:skoehler 11.07.2014
+OMIM:615817 #615817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT OMIM:615817 HPO:skoehler 11.07.2014
+OMIM:615817 #615817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43 HP:0001257 Spasticity IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY (1 PATIENT) OMIM:615817 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615817.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -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
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000817 Poor eye contact IEA IEA OMIM-CS:HEAD AND NECK_EYES > POOR EYE CONTACT OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0011228 Horizontal eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > STRAIGHT EYEBROWS OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000303 Mandibular prognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > PROMINENT CHIN OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000179 Thick lower lip vermilion IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > FULL LOWER LIP OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0002719 Recurrent infections IEA IEA OMIM-CS:IMMUNOLOGY > RECURRENT INFECTIONS OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000718 Aggressive behavior IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AGGRESSIVE BEHAVIOR OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000720 Mood swings IEA IEA OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > MOOD SWINGS OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0001288 Gait disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GAIT ABNORMALITIES OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MODERATE TO SEVERE OMIM:615828 HPO:skoehler 11.07.2014
+OMIM:615828 #615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 HP:0000960 Sacral dimple IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_SKIN > SACRAL DIMPLE (2 PATIENTS) OMIM:615828 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615828.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -0,0 +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:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0001508 Failure to thrive IEA IEA OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000369 Low-set ears IEA IEA OMIM-CS:HEAD AND NECK_EARS > LOW-SET EARS OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:HEAD AND NECK_EYES > DOWNSLANTING PALPEBRAL FISSURES OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000565 Esotropia IEA IEA OMIM-CS:HEAD AND NECK_EYES > ESOTROPIA OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000316 Hypertelorism IEA IEA OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:HEAD AND NECK_EYES > UPSLANTING PALPEBRAL FISSURES OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0000347 Micrognathia IEA IEA OMIM-CS:HEAD AND NECK_FACE > MICROGNATHIA OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > FLAT NASAL BRIDGE OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0012448 Delayed myelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOPLASIA OF THE CORPUS CALLOSUM OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0006951 Retrocerebellar cyst IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RETROCEREBELLAR CYST (IN SOME PATIENTS) OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0002870 Obstructive sleep apnea IEA IEA OMIM-CS:RESPIRATORY > OBSTRUCTIVE SLEEP APNEA OMIM:615829 HPO:skoehler 11.07.2014
+OMIM:615829 #615829 XIA-GIBBS SYNDROME;;MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 HP:0001601 Laryngomalacia IEA IEA OMIM-CS:RESPIRATORY_LARYNX > LARYNGOMALACIA OMIM:615829 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615829.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -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
+OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > POOR FEEDING OMIM:615833 HPO:skoehler 11.07.2014
+OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AXIAL HYPOTONIA OMIM:615833 HPO:skoehler 11.07.2014
+OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0001263 Global developmental delay IEA IEA MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND OMIM:615833 HPO:skoehler 11.07.2014
+OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EPILEPTIC ENCEPHALOPATHY OMIM:615833 HPO:skoehler 11.07.2014
+OMIM:615833 #615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 HP:0001558 Decreased fetal movement IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_MOVEMENT > DECREASED FETAL MOVEMENTS OMIM:615833 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615833.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -0,0 +1,2 @@
+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:615841 #615841 SPERMATOGENIC FAILURE 13; SPGF13 HP:0000027 Azoospermia IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > AZOOSPERMIA OMIM:615841 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615841.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -0,0 +1,2 @@
+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:615842 #615842 SPERMATOGENIC FAILURE 14; SPGF14 HP:0000027 Azoospermia IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > AZOOSPERMIA OMIM:615842 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615842.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -0,0 +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
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000377 Abnormality of the pinna IEA IEA OMIM-CS:HEAD AND NECK_EARS > ABNORMALLY SHAPED EARS OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0100704 Cortical visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORTICAL BLINDNESS OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0100704 Cortical visual impairment IEA IEA OMIM-CS:HEAD AND NECK_EYES > CORTICAL VISUAL IMPAIRMENT OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000506 Telecanthus IEA IEA OMIM-CS:HEAD AND NECK_EYES > TELECANTHUS OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000574 Thick eyebrow IEA IEA OMIM-CS:HEAD AND NECK_EYES > THICK EYEBROWS OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000341 Narrow forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > BITEMPORAL NARROWING OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000629 Periorbital fullness IEA IEA OMIM-CS:HEAD AND NECK_FACE > PERIORBITAL FULLNESS OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000322 Short philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE > SHORT PHILTRUM OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0012471 Thick vermilion border IEA IEA OMIM-CS:HEAD AND NECK_MOUTH > FULL LIPS OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000463 Anteverted nares IEA IEA OMIM-CS:HEAD AND NECK_NOSE > ANTEVERTED NARES OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000455 Broad nasal tip IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL TIP OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EPILEPTIC ENCEPHALOPATHY OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0002521 Hypsarrhythmia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPSARRHYTHMIA OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THIN CORPUS CALLOSUM OMIM:615859 HPO:skoehler 11.07.2014
+OMIM:615859 #615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HP:0000294 Low anterior hairline IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > LOW ANTERIOR HAIRLINE OMIM:615859 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615859.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -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
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0001396 Cholestasis IEA IEA rare OMIM-CS:ABDOMEN_LIVER > CHOLESTASIS (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0006580 Portal fibrosis IEA IEA rare OMIM-CS:ABDOMEN_LIVER > PORTAL FIBROSIS (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0003774 Stage 5 chronic kidney disease IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > END-STAGE RENAL DISEASE OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0000090 Nephronophthisis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > NEPHRONOPHTHISIS OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0004722 Thickening of the glomerular basement membrane IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > THICKENING OF THE GLOMERULAR BASEMENT MEMBRANE OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0000092 Tubular atrophy IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > TUBULAR ATROPHY OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0001970 Tubulointerstitial nephritis IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > TUBULOINTERSTITIAL NEPHRITIS OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0000486 Strabismus IEA IEA rare OMIM-CS:HEAD AND NECK_EARS > STRABISMUS (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0000238 Hydrocephalus IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALUS (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014
+OMIM:615862 #615862 NEPHRONOPHTHISIS 18; NPHP18 HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY (IN SOME PATIENTS) OMIM:615862 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615862.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab 2014-07-11 11:00:12 UTC (rev 5182)
@@ -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:615863 #615863 DIARRHEA 7; DIAR7 HP:0002243 Protein-losing enteropathy IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > PROTEIN-LOSING ENTEROPATHY OMIM:615863 HPO:skoehler 11.07.2014
+OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0002013 Vomiting IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING OMIM:615863 HPO:skoehler 11.07.2014
+OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0003077 Hyperlipidemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPERLIPIDEMIA OMIM:615863 HPO:skoehler 11.07.2014
+OMIM:615863 #615863 DIARRHEA 7; DIAR7 HP:0003073 Hypoalbuminemia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > HYPOALBUMINEMIA OMIM:615863 HPO:skoehler 11.07.2014
Property changes on: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615863.tab
___________________________________________________________________
Added: svn:executable
## -0,0 +1 ##
+*
\ No newline at end of property
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-07-11 08:58:13
|
Revision: 5181
http://sourceforge.net/p/obo/svn/5181
Author: koehlers
Date: 2014-07-11 08:58:04 +0000 (Fri, 11 Jul 2014)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/misc/makefile
Modified: phenotype-commons/annotations/OMIM/by-disease/misc/makefile
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2014-07-07 18:23:12 UTC (rev 5180)
+++ phenotype-commons/annotations/OMIM/by-disease/misc/makefile 2014-07-11 08:58:04 UTC (rev 5181)
@@ -32,7 +32,9 @@
# loads the mapping between orphanet's signs-and-symptoms and HPO
svn export http://compbio.charite.de/svn/hpo/trunk/src/mappings/ $(ORPHANET_MAPPING)
# loads the HPO
- svn export http://compbio.charite.de/svn/hpo/trunk/src/ontology/ $(HPO_FOLDER)
+ wget -N -P $(HPO_FOLDER) http://compbio.charite.de/hudson/job/hpo/lastSuccessfulBuild/artifact/hp/hp.obo
+ mv $(HPO_FOLDER)/hp.obo $(HPO_FOLDER)/human-phenotype-ontology.obo
+ #svn export http://compbio.charite.de/svn/hpo/trunk/src/ontology/ $(HPO_FOLDER)
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-07-07 18:23:19
|
Revision: 5180
http://sourceforge.net/p/obo/svn/5180
Author: cmungall
Date: 2014-07-07 18:23:12 +0000 (Mon, 07 Jul 2014)
Log Message:
-----------
new release
Added Paths:
-----------
uberon/releases/2014-07-06/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-07-03 00:47:42
|
Revision: 5178
http://sourceforge.net/p/obo/svn/5178
Author: cmungall
Date: 2014-07-03 00:47:34 +0000 (Thu, 03 Jul 2014)
Log Message:
-----------
new release
Added Paths:
-----------
uberon/releases/2014-07-01/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-07-01 22:33:28
|
Revision: 5176
http://sourceforge.net/p/obo/svn/5176
Author: cmungall
Date: 2014-07-01 22:33:23 +0000 (Tue, 01 Jul 2014)
Log Message:
-----------
gone
Removed Paths:
-------------
uberon/trunk/composite-vertebrate.obo
uberon/trunk/composite-vertebrate.owl
Deleted: uberon/trunk/composite-vertebrate.obo
===================================================================
--- uberon/trunk/composite-vertebrate.obo 2014-07-01 22:22:28 UTC (rev 5175)
+++ uberon/trunk/composite-vertebrate.obo 2014-07-01 22:33:23 UTC (rev 5176)
@@ -1,320280 +0,0 @@
-format-version: 1.2
-date: 30:06:2014 21:01
-saved-by: cjm
-subsetdef: anatomical_site_slim ""
-subsetdef: cell_slim ""
-subsetdef: cumbo "CUMBO"
-subsetdef: cyclostome_subset "cyclostome structures"
-subsetdef: defined_by_ordinal_series "classes that are defined by relative position counting from first in a series of elements along an axis in an individual organism rather than by strict homology"
-subsetdef: developmental_classification "developmental_classification"
-subsetdef: disjointness_axiom_removed "A class which has a weakened disjointness axiom, to avoid inconsistency. These are kept separately in the uberon_disjoint_from_strict ontology."
-subsetdef: dubious_grouping "Indicates that subclasses in AOs may be inappropriately linked"
-subsetdef: early_development "A class that represents an early developmental structure, like a blastocyst. This part of the ontology is undergoing review to remove inappropriate grouping classes."
-subsetdef: efo_slim "EFO slim"
-subsetdef: emapa_ehdaa2 "derived from the union of EHDAA2 and EMAPA - still to be checked"
-subsetdef: frequent_anatomy_items ""
-subsetdef: functional_classification "functional_classification"
-subsetdef: granular_stage "Subset consisting of classes describing highly granular developmental stages (for instance, '23-year-old'). Such stages might be useful for annotation purpose, but might be folded into less granular parents for display purpose."
-subsetdef: grouping_class "Subset consisting of classes creating for grouping purposes"
-subsetdef: inconsistent_with_fma "classes that have some inconsistency with FMA"
-subsetdef: loose_concept "loose concept"
-subsetdef: major_organ "somewhat fuzzy grouping for analysis purposes, currently composed of something like: liver, heart, skeletal, kidney, bladder, brain, skin, mouth, esophagus, stomach, small intestine, large intestines, trachea nose, lungs, brain, spinal cord, peripheral nerves, kidneys, ureters, bladder, urethra, gonads"
-subsetdef: metazoa_core "core classes typically found across metazoa. one purpose is to create a rough set of terms that could be used to start a new metazoan AO. Note this subset is not yet fully fleshed out"
-subsetdef: non_informative "abstract class brought in to group ontology classes but not informative"
-subsetdef: organ_slim "organs, excluding individual muscles and skeletal elements"
-subsetdef: organism_views ""
-subsetdef: phenotype_rcn "A subset specifically created for the 2012 Phenotype RCN meeting. Includes some human-specific terms that may eventually be removed when they are adequately represented with part of relationships in FMA"
-subsetdef: sectional_anatomy_items ""
-subsetdef: uberon_slim "Uberon slim - somewhat arbitrary subset that excludes obscure terms and deep compositional terms"
-subsetdef: ubprop:upper_level "abstract upper-level terms not directly useful for analysis"
-subsetdef: unverified_taxonomic_grouping "Indicates that the class encompasses classes from other AOs that have not been verified"
-subsetdef: upper_level "abstract upper-level terms not directly useful for analysis"
-subsetdef: upper_ontology_conflict "Terms in this subset group together terms from different anatomy ontologies that have conflicting upper ontology/CARO assignments. For example, in FMA the naris is immaterial and in ZFA it is an organism subdivision."
-subsetdef: vertebrate_core "core classes typically found across vertebrates. one purpose is to create a rough set of terms that could be used to start a new vertebrate AO"
-subsetdef: vessel_or_tree "A term classified differently in FMA due to its treatment of branching structures - to be reviewed and revised by editors"
-synonymtypedef: ABBREVIATION "abbreviation"
-synonymtypedef: COMPARATIVE_PREFERRED "preferred term in the context of comparative anatomy"
-synonymtypedef: DEPRECATED "A historic synonym, no longer encouraged"
-synonymtypedef: DEVELOPMENTAL "developmental term"
-synonymtypedef: DUBIOUS "dubious or contested synonym"
-synonymtypedef: HOMOLOGY "a synonym made on the basis of a possibly homologous structure in another species"
-synonymtypedef: HUMAN_PREFERRED "preferred term when talking about an instance of this class in Homo sapiens"
-synonymtypedef: INCONSISTENT "indicates that a synonym is used in an inconsistent or confusing way, typically between species"
-synonymtypedef: LATIN "latin term"
-synonymtypedef: NON_AMNIOTE "synonym that is inappropriate for amniotes"
-synonymtypedef: NON_MAMMAL "synonym that is inappropriate for mammals"
-synonymtypedef: PENDING_REVIEW "expert consultation and attribution required"
-synonymtypedef: PLURAL ""
-synonymtypedef: SENSU "taxonomic disambiguation"
-default-namespace: file:/Users/cjm/repos/uberon/composite-vertebrate.obo.tmp
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-ehdaa2.owl>))) [Axioms: 250173 Logical Axioms: 61445]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-emapa.owl>))) [Axioms: 255763 Logical Axioms: 63541]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-ma.owl>))) [Axioms: 239082 Logical Axioms: 51763]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-xao.owl>))) [Axioms: 240374 Logical Axioms: 54673]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-zfa.owl>))) [Axioms: 243605 Logical Axioms: 57314]
-ontology: uberon/raw-composite-vertebrate
@@ Diff output truncated at 100000 characters. @@
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-07-01 22:22:33
|
Revision: 5175
http://sourceforge.net/p/obo/svn/5175
Author: cmungall
Date: 2014-07-01 22:22:28 +0000 (Tue, 01 Jul 2014)
Log Message:
-----------
pre
Modified Paths:
--------------
uberon/trunk/composite-vertebrate.obo
uberon/trunk/composite-vertebrate.owl
Modified: uberon/trunk/composite-vertebrate.obo
===================================================================
--- uberon/trunk/composite-vertebrate.obo 2014-07-01 22:21:10 UTC (rev 5174)
+++ uberon/trunk/composite-vertebrate.obo 2014-07-01 22:22:28 UTC (rev 5175)
@@ -1,5 +1,5 @@
format-version: 1.2
-date: 26:06:2014 20:56
+date: 30:06:2014 21:01
saved-by: cjm
subsetdef: anatomical_site_slim ""
subsetdef: cell_slim ""
@@ -47,13 +47,13 @@
synonymtypedef: PLURAL ""
synonymtypedef: SENSU "taxonomic disambiguation"
default-namespace: file:/Users/cjm/repos/uberon/composite-vertebrate.obo.tmp
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-ehdaa2.owl>))) [Axioms: 249157 Logical Axioms: 61420]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-emapa.owl>))) [Axioms: 254110 Logical Axioms: 63478]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-ma.owl>))) [Axioms: 238186 Logical Axioms: 51864]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-xao.owl>))) [Axioms: 239324 Logical Axioms: 54620]
-remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-zfa.owl>))) [Axioms: 242547 Logical Axioms: 57253]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-ehdaa2.owl>))) [Axioms: 250173 Logical Axioms: 61445]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-emapa.owl>))) [Axioms: 255763 Logical Axioms: 63541]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-ma.owl>))) [Axioms: 239082 Logical Axioms: 51763]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-xao.owl>))) [Axioms: 240374 Logical Axioms: 54673]
+remark: Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/uberon/composite-zfa.owl>))) [Axioms: 243605 Logical Axioms: 57314]
ontology: uberon/raw-composite-vertebrate
@@ Diff output truncated at 100000 characters. @@
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-07-01 22:21:20
|
Revision: 5174
http://sourceforge.net/p/obo/svn/5174
Author: cmungall
Date: 2014-07-01 22:21:10 +0000 (Tue, 01 Jul 2014)
Log Message:
-----------
new
Added Paths:
-----------
uberon/trunk/bridge/uberon-bridge-to-zfs.obo
uberon/trunk/bridge/uberon-bridge-to-zfs.owl
Added: uberon/trunk/bridge/uberon-bridge-to-zfs.obo
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-zfs.obo (rev 0)
+++ uberon/trunk/bridge/uberon-bridge-to-zfs.obo 2014-07-01 22:21:10 UTC (rev 5174)
@@ -0,0 +1,201 @@
+ontology: uberon/bridge/uberon-bridge-to-zfs
+data-version: 2014-06-30
+property_value: seeAlso "http://purl.obolibrary.org/obo/uberon/references/reference_0000026" xsd:anyURI
+
+[Term]
+id: ZFS:0000048 !
+property_value: IAO:0000589 "larval stage (ZFS)" xsd:string
+intersection_of: UBERON:0000069 ! larval stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000000 !
+property_value: IAO:0000589 "life cycle stage (ZFS)" xsd:string
+intersection_of: UBERON:0000105 ! life cycle stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0100000 !
+property_value: IAO:0000589 "life cycle stage (ZFS)" xsd:string
+intersection_of: UBERON:0000105 ! life cycle stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000001 !
+property_value: IAO:0000589 "zygote stage (ZFS)" xsd:string
+intersection_of: UBERON:0000106 ! zygote stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000046 !
+property_value: IAO:0000589 "cleavage stage (ZFS)" xsd:string
+intersection_of: UBERON:0000107 ! cleavage stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000045 !
+property_value: IAO:0000589 "blastula stage (ZFS)" xsd:string
+intersection_of: UBERON:0000108 ! blastula stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000047 !
+property_value: IAO:0000589 "gastrula stage (ZFS)" xsd:string
+intersection_of: UBERON:0000109 ! gastrula stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000051 !
+property_value: IAO:0000589 "sexually immature stage (ZFS)" xsd:string
+intersection_of: UBERON:0000112 ! sexually immature stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000044 !
+property_value: IAO:0000589 "post-juvenile adult stage (ZFS)" xsd:string
+intersection_of: UBERON:0000113 ! post-juvenile adult stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000050 !
+property_value: IAO:0000589 "pharyngula stage (ZFS)" xsd:string
+intersection_of: UBERON:0004707 ! pharyngula stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000002 !
+property_value: IAO:0000589 "2 cell stage (ZFS)" xsd:string
+intersection_of: UBERON:0007232 ! 2 cell stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000003 !
+property_value: IAO:0000589 "4 cell stage (ZFS)" xsd:string
+intersection_of: UBERON:0007233 ! 4 cell stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:0000004 !
+property_value: IAO:0000589 "8 cell stage (ZFS)" xsd:string
+intersection_of: UBERON:0007236 ! 8 cell stage
+intersection_of: part_of NCBITaxon:7954
+
+[Term]
+id: ZFS:ENTITY
+name: ZFS entity
+intersection_of: UBERON:0001062 ! anatomical entity
+intersection_of: part_of NCBITaxon:7954
+relationship: only_in_taxon NCBITaxon:7954
+
+[Typedef]
+id: part_of
+xref: BFO:0000050
+is_transitive: true
+
+[Typedef]
+id: only_in_taxon
+xref: RO:0002160
+
+[Typedef]
+id: http://purl.obolibrary.org/obo/zfs#part_of
+equivalent_to: BFO:0000050
+
+[Typedef]
+id: http://purl.obolibrary.org/obo/zfs#develops_from
+equivalent_to: RO:0002225
+
+[Typedef]
+id: foaf-depicted_by
+name: depicted_by
+is_metadata_tag: true
+xref: http://xmlns.com/foaf/0.1/depicted_by
+
+[Typedef]
+id: foaf-homepage
+name: homepage
+is_metadata_tag: true
+xref: http://xmlns.com/foaf/0.1/homepage
+
+[Typedef]
+id: dc-title
+name: title
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/title
+
+[Typedef]
+id: dc-contributor
+name: contributor
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/contributor
+
+[Typedef]
+id: dc-creator
+name: creator
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/creator
+
+[Typedef]
+id: dc-publisher
+name: publisher
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/publisher
+
+[Typedef]
+id: dc-description
+name: description
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/description
+
+[Typedef]
+id: dc-source
+name: derived from resource
+is_metadata_tag: true
+xref: http://purl.org/dc/elements/1.1/source
+
+[Typedef]
+id: dcterms-isReferencedBy
+name: is referenced by
+is_metadata_tag: true
+xref: http://purl.org/dc/terms/isReferencedBy
+
+[Typedef]
+id: dcterms-references
+name: references
+is_metadata_tag: true
+xref: http://purl.org/dc/terms/references
+
+[Typedef]
+id: doap-GitRepository
+name: Git repository
+is_metadata_tag: true
+xref: http://usefulinc.com/ns/doap#GitRepository
+
+[Typedef]
+id: doap-SVNRepository
+name: SVN repository
+is_metadata_tag: true
+xref: http://usefulinc.com/ns/doap#SVNRepository
+
+[Typedef]
+id: doap-wiki
+name: wiki
+is_metadata_tag: true
+xref: http://usefulinc.com/ns/doap#wiki
+
+[Typedef]
+id: doap-bug-database
+name: bug database
+is_metadata_tag: true
+xref: http://usefulinc.com/ns/doap#bug-database
+
+[Typedef]
+id: seeAlso
+name: see also
+is_metadata_tag: true
+xref: http://www.w3.org/2000/01/rdf-schema#seeAlso
+
+[Typedef]
+id: example_of_usage
+name: example of usage
+is_metadata_tag: true
+xref: IAO:0000122
Added: uberon/trunk/bridge/uberon-bridge-to-zfs.owl
===================================================================
--- uberon/trunk/bridge/uberon-bridge-to-zfs.owl (rev 0)
+++ uberon/trunk/bridge/uberon-bridge-to-zfs.owl 2014-07-01 22:21:10 UTC (rev 5174)
@@ -0,0 +1,704 @@
+<?xml version="1.0"?>
+<rdf:RDF xmlns="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-zfs.owl#"
+ xml:base="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-zfs.owl"
+ xmlns:dc="http://purl.org/dc/elements/1.1/"
+ xmlns:obo="http://purl.obolibrary.org/obo/"
+ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
+ xmlns:foaf="http://xmlns.com/foaf/0.1/"
+ xmlns:terms="http://purl.org/dc/terms/"
+ xmlns:owl="http://www.w3.org/2002/07/owl#"
+ xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
+ xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
+ xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
+ xmlns:doap="http://usefulinc.com/ns/doap#">
+ <owl:Ontology rdf:about="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-zfs.owl">
+ <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">http://purl.obolibrary.org/obo/uberon/references/reference_0000026</rdfs:seeAlso>
+ <owl:versionIRI rdf:resource="http://purl.obolibrary.org/obo/uberon/bridge/uberon-bridge-to-zfs/2014-06-30/uberon/bridge/uberon-bridge-to-zfs.owl"/>
+ </owl:Ontology>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Annotation properties
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- http://purl.obolibrary.org/obo/IAO_0000122 -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000122">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example of usage</rdfs:label>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">IAO:0000122</oboInOwl:hasDbXref>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example_of_usage</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">example_of_usage</oboInOwl:shorthand>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/IAO_0000589 -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000589"/>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/contributor -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/contributor">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">contributor</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-contributor</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-contributor</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/contributor</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/creator -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/creator">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">creator</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-creator</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-creator</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/creator</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/description -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/description">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">description</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-description</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-description</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/description</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/publisher -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/publisher">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">publisher</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-publisher</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-publisher</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/publisher</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/source -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/source">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">derived from resource</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-source</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-source</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/source</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/elements/1.1/title -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/title">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">title</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-title</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dc-title</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/elements/1.1/title</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/terms/isReferencedBy -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/isReferencedBy">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">is referenced by</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-isReferencedBy</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-isReferencedBy</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/terms/isReferencedBy</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://purl.org/dc/terms/references -->
+
+ <owl:AnnotationProperty rdf:about="http://purl.org/dc/terms/references">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">references</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-references</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dcterms-references</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.org/dc/terms/references</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://usefulinc.com/ns/doap#GitRepository -->
+
+ <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#GitRepository">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Git repository</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-GitRepository</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-GitRepository</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#GitRepository</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://usefulinc.com/ns/doap#SVNRepository -->
+
+ <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#SVNRepository">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">SVN repository</rdfs:label>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-SVNRepository</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-SVNRepository</oboInOwl:shorthand>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#SVNRepository</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://usefulinc.com/ns/doap#bug-database -->
+
+ <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#bug-database">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">bug database</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-bug-database</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-bug-database</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#bug-database</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://usefulinc.com/ns/doap#wiki -->
+
+ <owl:AnnotationProperty rdf:about="http://usefulinc.com/ns/doap#wiki">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">wiki</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-wiki</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">doap-wiki</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://usefulinc.com/ns/doap#wiki</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://www.geneontology.org/formats/oboInOwl#hasDbXref -->
+
+ <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">database_cross_reference</rdfs:label>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://www.geneontology.org/formats/oboInOwl#id -->
+
+ <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
+
+
+
+ <!-- http://www.geneontology.org/formats/oboInOwl#is_metadata_tag -->
+
+ <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#is_metadata_tag"/>
+
+
+
+ <!-- http://www.geneontology.org/formats/oboInOwl#shorthand -->
+
+ <owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#shorthand">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">shorthand</rdfs:label>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://www.w3.org/2000/01/rdf-schema#label -->
+
+ <owl:AnnotationProperty rdf:about="http://www.w3.org/2000/01/rdf-schema#label"/>
+
+
+
+ <!-- http://www.w3.org/2000/01/rdf-schema#seeAlso -->
+
+ <owl:AnnotationProperty rdf:about="http://www.w3.org/2000/01/rdf-schema#seeAlso">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">see also</rdfs:label>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://www.w3.org/2000/01/rdf-schema#seeAlso</oboInOwl:hasDbXref>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">seeAlso</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">seeAlso</oboInOwl:id>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://xmlns.com/foaf/0.1/depicted_by -->
+
+ <owl:AnnotationProperty rdf:about="http://xmlns.com/foaf/0.1/depicted_by">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">depicted_by</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-depicted_by</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-depicted_by</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://xmlns.com/foaf/0.1/depicted_by</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!-- http://xmlns.com/foaf/0.1/homepage -->
+
+ <owl:AnnotationProperty rdf:about="http://xmlns.com/foaf/0.1/homepage">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">homepage</rdfs:label>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-homepage</oboInOwl:shorthand>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">foaf-homepage</oboInOwl:id>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://xmlns.com/foaf/0.1/homepage</oboInOwl:hasDbXref>
+ <oboInOwl:is_metadata_tag rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</oboInOwl:is_metadata_tag>
+ </owl:AnnotationProperty>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Object Properties
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- http://purl.obolibrary.org/obo/BFO_0000050 -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/BFO_0000050">
+ <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">BFO:0000050</oboInOwl:hasDbXref>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">part_of</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">part_of</oboInOwl:shorthand>
+ <owl:equivalentProperty rdf:resource="http://purl.obolibrary.org/obo/zfs#part_of"/>
+ </owl:ObjectProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/RO_0002160 -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002160">
+ <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">RO:0002160</oboInOwl:hasDbXref>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">only_in_taxon</oboInOwl:id>
+ <oboInOwl:shorthand rdf:datatype="http://www.w3.org/2001/XMLSchema#string">only_in_taxon</oboInOwl:shorthand>
+ </owl:ObjectProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/RO_0002225 -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002225">
+ <owl:equivalentProperty rdf:resource="http://purl.obolibrary.org/obo/zfs#develops_from"/>
+ </owl:ObjectProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/zfs#develops_from -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/zfs#develops_from">
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.obolibrary.org/obo/zfs#develops_from</oboInOwl:id>
+ </owl:ObjectProperty>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/zfs#part_of -->
+
+ <owl:ObjectProperty rdf:about="http://purl.obolibrary.org/obo/zfs#part_of">
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">http://purl.obolibrary.org/obo/zfs#part_of</oboInOwl:id>
+ </owl:ObjectProperty>
+
+
+
+ <!--
+ ///////////////////////////////////////////////////////////////////////////////////////
+ //
+ // Classes
+ //
+ ///////////////////////////////////////////////////////////////////////////////////////
+ -->
+
+
+
+
+ <!-- http://purl.obolibrary.org/obo/NCBITaxon_7954 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000069 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000069"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000105 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000105"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000106 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000106"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000107 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000107"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000108 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000108"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000109 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000109"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000112 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000112"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0000113 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000113"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0001062 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0001062"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0004707 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0004707"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0007232 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0007232"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0007233 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0007233"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/UBERON_0007236 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0007236"/>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000000 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000000">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000105"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000000</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">life cycle stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000001 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000001">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000106"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000001</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">zygote stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000002 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000002">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0007232"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2 cell stage (ZFS)</obo:IAO_0000589>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000002</oboInOwl:id>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000003 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000003">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0007233"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">4 cell stage (ZFS)</obo:IAO_0000589>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000003</oboInOwl:id>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000004 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000004">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0007236"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">8 cell stage (ZFS)</obo:IAO_0000589>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000004</oboInOwl:id>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000044 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000044">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000113"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000044</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">post-juvenile adult stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000045 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000045">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000108"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000045</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">blastula stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000046 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000046">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000107"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000046</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">cleavage stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000047 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000047">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000109"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000047</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">gastrula stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000048 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000048">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000069"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000048</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">larval stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000050 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000050">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0004707"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000050</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">pharyngula stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0000051 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0000051">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000112"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0000051</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">sexually immature stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_0100000 -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_0100000">
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0000105"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:0100000</oboInOwl:id>
+ <obo:IAO_0000589 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">life cycle stage (ZFS)</obo:IAO_0000589>
+ </owl:Class>
+
+
+
+ <!-- http://purl.obolibrary.org/obo/ZFS_ENTITY -->
+
+ <owl:Class rdf:about="http://purl.obolibrary.org/obo/ZFS_ENTITY">
+ <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS entity</rdfs:label>
+ <owl:equivalentClass>
+ <owl:Class>
+ <owl:intersectionOf rdf:parseType="Collection">
+ <rdf:Description rdf:about="http://purl.obolibrary.org/obo/UBERON_0001062"/>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/BFO_0000050"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </owl:intersectionOf>
+ </owl:Class>
+ </owl:equivalentClass>
+ <rdfs:subClassOf>
+ <owl:Restriction>
+ <owl:onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0002160"/>
+ <owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_7954"/>
+ </owl:Restriction>
+ </rdfs:subClassOf>
+ <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ZFS:ENTITY</oboInOwl:id>
+ </owl:Class>
+</rdf:RDF>
+
+
+
+<!-- Generated by the OWL API (version 0.2.1-SNAPSHOT) http://owlapi.sourceforge.net -->
+
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <cmu...@us...> - 2014-06-29 23:45:04
|
Revision: 5173
http://sourceforge.net/p/obo/svn/5173
Author: cmungall
Date: 2014-06-29 23:44:55 +0000 (Sun, 29 Jun 2014)
Log Message:
-----------
new release
Added Paths:
-----------
uberon/releases/2014-06-26/
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|
|
From: <koe...@us...> - 2014-06-25 07:38:58
|
Revision: 5171
http://sourceforge.net/p/obo/svn/5171
Author: koehlers
Date: 2014-06-25 07:38:54 +0000 (Wed, 25 Jun 2014)
Log Message:
-----------
annotation updates (manually checked because non-perfect textmatching was used in first step)
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101600.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101900.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102300.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103285.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615444.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615468.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615471.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615473.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615476.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615482.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615490.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615500.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615502.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615508.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615540.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615547.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615548.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615553.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615560.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615573.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615582.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615599.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615607.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615615.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615616.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615617.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615631.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615633.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615663.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615665.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615704.tab
phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615735.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101600.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101600.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101600.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -27,3 +27,4 @@
OMIM:101600 PFEIFFER SYNDROME HP:0003795 Short middle phalanx of toe TAS TAS OMIM:101600 HPO:probinson Jun 9, 2012
OMIM:101600 PFEIFFER SYNDROME HP:0006110 Shortening of all middle phalanges of the fingers TAS TAS OMIM:101600 HPO:probinson Jun 9, 2012
OMIM:101600 PFEIFFER SYNDROME HP:0003070 Elbow ankylosis IEA IEA OMIM:101600 HPO:skoehler Oct 9, 2012
+OMIM:101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0006101 Finger syndactyly IEA IEA OMIM-CS:SKELETAL_HANDS > PARTIAL SYNDACTYLY OF FINGERS AND TOES OMIM:101600 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101900.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101900.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101900.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -2,3 +2,4 @@
OMIM:101900 ACROKERATOSIS VERRUCIFORMIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:101900 HPO 17.02.2009
OMIM:101900 ACROKERATOSIS VERRUCIFORMIS HP:0000962 Hyperkeratosis IEA IEA OMIM:101900 HPO 17.02.2009
OMIM:101900 ACROKERATOSIS VERRUCIFORMIS HP:0001807 Ridged nail IEA IEA OMIM:101900 HPO 17.02.2009
+OMIM:101900 #101900 ACROKERATOSIS VERRUCIFORMIS; AKV;;HOPF DISEASE HP:0100792 Acantholysis IEA IEA NOT NOT OMIM-CS:SKIN, NAILS, HAIR_SKIN > NO ACANTHOLYSIS OR DYSKERATOSIS OMIM:101900 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102200.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -11,3 +11,4 @@
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:102200 HPO 17.02.2009
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0002893 Pituitary adenoma IEA IEA OMIM:102200 HPO:skoehler 18.06.2010
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING HP:0006767 Pituitary prolactin cell adenoma TAS TAS OMIM:102200 HPO:skoehler 17.02.2009
+OMIM:102200 #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING;;SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;;ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;;SOMATOTROPHINOMA, FAMILIAL;;ACROMEGALY DUE TO PITUITARY ADENOMAPITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;;PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED;;SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED HP:0100829 Galactorrhea IEA IEA OMIM-CS:CHEST_BREASTS > GALACTORRHEA FROM INCREASED SERUM PROLACTIN OMIM:102200 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102300.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102300.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102300.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -5,3 +5,4 @@
OMIM:102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1 HP:0008991 Exercise-induced leg cramps TAS TAS OMIM:102300 HPO Feb 17, 2009
OMIM:102300 %102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1;;ACROMELALGIA, HEREDITARY;;EKBOM SYNDROME HP:0002360 Sleep disturbance IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RESULTS IN NOCTURNAL INSOMNIA AND CHRONIC SLEEP DEPRIVATION OMIM:102300 HPO:skoehler Nov 17, 2012
OMIM:102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1 HP:0012452 Restless legs TAS TAS OMIM:102300 HPO:skoehler Nov 24, 2013
+OMIM:102300 %102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1;;ACROMELALGIA, HEREDITARY;;EKBOM SYNDROME HP:0100785 Insomnia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > RESULTS IN NOCTURNAL INSOMNIA AND CHRONIC SLEEP DEPRIVATION OMIM:102300 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102500.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-102500.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -50,3 +50,4 @@
OMIM:102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001671 Abnormality of the cardiac septa IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > SEPTAL DEFECTS OMIM:102500 HPO:skoehler 18.11.2013
OMIM:102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000280 Coarse facial features IEA IEA OMIM-CS:HEAD AND NECK_FACE > COARSE FACIES OMIM:102500 HPO:skoehler 18.11.2013
OMIM:102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000293 Full cheeks IEA IEA OMIM-CS:HEAD AND NECK_FACE > FULL CHEEKS OMIM:102500 HPO:skoehler 18.11.2013
+OMIM:102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0005758 Basilar impression IEA IEA OMIM-CS:SKELETAL_SKULL > PROGRESSIVE BASILAR IMPRESSION OMIM:102500 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103285.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103285.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-103285.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -27,3 +27,4 @@
OMIM:103285 ADULT SYNDROME HP:0006610 Wide intermamillary distance IEA IEA OMIM:103285 HPO Feb 17, 2009
OMIM:103285 ADULT SYNDROME HP:0000202 Oral cleft IEA IEA OMIM:103285 HPO:skoehler Oct 11, 2012
OMIM:103285 ADULT SYNDROME HP:0007455 Adermatoglyphia IEA IEA OMIM:103285 HPO:skoehler Oct 11, 2012
+OMIM:103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0200115 Scalp hair loss IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > PREMATURE SCALP HAIR LOSS (>30 YEARS) OMIM:103285 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615444.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615444.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615444.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -9,3 +9,5 @@
OMIM:615444 #615444 CILIARY DYSKINESIA, PRIMARY, 22; CILD22;;CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS HP:0200073 Respiratory insufficiency due to defective ciliary clearance IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO DEFECTIVE CILIARY CLEARANCE OMIM:615444 HPO:skoehler 22.10.2013
OMIM:615444 #615444 CILIARY DYSKINESIA, PRIMARY, 22; CILD22;;CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS HP:0004469 Chronic bronchitis IEA IEA OMIM-CS:RESPIRATORY_AIRWAYS > CHRONIC BRONCHITIS OMIM:615444 HPO:skoehler 22.10.2013
OMIM:615444 #615444 CILIARY DYSKINESIA, PRIMARY, 22; CILD22;;CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNGS > BRONCHIECTASIS OMIM:615444 HPO:skoehler 22.10.2013
+OMIM:615444 #615444 CILIARY DYSKINESIA, PRIMARY, 22; CILD22;;CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS HP:0000789 Infertility IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > INFERTILITY DUE TO IMMOTILE SPERM OMIM:615444 HPO:skoehler 24.06.2014
+OMIM:615444 #615444 CILIARY DYSKINESIA, PRIMARY, 22; CILD22;;CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS HP:0012207 Reduced sperm motility IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > INFERTILITY DUE TO IMMOTILE SPERM OMIM:615444 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615468.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615468.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615468.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -5,3 +5,4 @@
OMIM:615468 #615468 IMMUNODEFICIENCY 12; IMD12 HP:0004429 Recurrent viral infections IEA IEA OMIM-CS:IMMUNOLOGY > RECURRENT VIRAL INFECTIONS OMIM:615468 HPO:skoehler 24.06.2014
OMIM:615468 #615468 IMMUNODEFICIENCY 12; IMD12 HP:0002750 Delayed skeletal maturation IEA IEA rare OMIM-CS:SKELETAL > DELAYED BONE AGE (1 PATIENT) OMIM:615468 HPO:skoehler 24.06.2014
OMIM:615468 #615468 IMMUNODEFICIENCY 12; IMD12 HP:0000939 Osteoporosis IEA IEA rare OMIM-CS:SKELETAL > OSTEOPOROSIS (1 PATIENT) OMIM:615468 HPO:skoehler 24.06.2014
+OMIM:615468 #615468 IMMUNODEFICIENCY 12; IMD12 HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > PRIMARY IMMUNODEFICIENCY OMIM:615468 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615471.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615471.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615471.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -43,3 +43,4 @@
OMIM:615471 #615471 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE);MTDPS13 HP:0001773 Short foot IEA IEA rare OMIM-CS:SKELETAL_FEET > SMALL FEET (IN SOME PATIENTS) OMIM:615471 HPO:skoehler 18.11.2013
OMIM:615471 #615471 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE);MTDPS13 HP:0002650 Scoliosis IEA IEA rare OMIM-CS:SKELETAL_SPINE > SCOLIOSIS (IN SOME PATIENTS) OMIM:615471 HPO:skoehler 18.11.2013
OMIM:615471 #615471 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE);MTDPS13 HP:0012448 Delayed myelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION OMIM:615471 HPO:skoehler 28.11.2013
+OMIM:615471 #615471 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE);MTDPS13 HP:0200125 Mitochondrial respiratory chain defects IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS (SKELETAL MUSCLE, FIBROBLASTS) OMIM:615471 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615473.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615473.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615473.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -9,3 +9,4 @@
OMIM:615473 #615473 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LACK OF PSYCHOMOTOR DEVELOPMENT OMIM:615473 HPO:skoehler 18.11.2013
OMIM:615473 #615473 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THIN CORPUS CALLOSUM OMIM:615473 HPO:skoehler 18.11.2013
OMIM:615473 #615473 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17 HP:0012448 Delayed myelination IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION OMIM:615473 HPO:skoehler 28.11.2013
+OMIM:615473 #615473 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17 HP:0010818 Generalized tonic seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TONIC SEIZURES OMIM:615473 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615476.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615476.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615476.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -10,3 +10,4 @@
OMIM:615476 #615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LACK OF PSYCHOMOTOR DEVELOPMENT OMIM:615476 HPO:skoehler 18.11.2013
OMIM:615476 #615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18 HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA OMIM:615476 HPO:skoehler 18.11.2013
OMIM:615476 #615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18 HP:0002353 EEG abnormality IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EEG ABNORMALITIES OMIM:615476 HPO:skoehler 04.05.2014
+OMIM:615476 #615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18 HP:0007074 Thick corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MRI SHOWS SHORT, THICK CORPUS CALLOSUM OMIM:615476 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615482.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615482.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615482.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -8,3 +8,4 @@
OMIM:615482 #615482 CILIARY DYSKINESIA, PRIMARY, 25; CILD25;;CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:615482 HPO:skoehler 18.11.2013
OMIM:615482 #615482 CILIARY DYSKINESIA, PRIMARY, 25; CILD25;;CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS HP:0006510 Chronic obstructive pulmonary disease IEA IEA OMIM-CS:RESPIRATORY > CHRONIC OBSTRUCTIVE PULMONARY DISEASE OMIM:615482 HPO:skoehler 18.11.2013
OMIM:615482 #615482 CILIARY DYSKINESIA, PRIMARY, 25; CILD25;;CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNG > BRONCHIECTASIS OMIM:615482 HPO:skoehler 18.11.2013
+OMIM:615482 #615482 CILIARY DYSKINESIA, PRIMARY, 25; CILD25;;CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS DUE TO DEFECTIVE CILIA FUNCTION OMIM:615482 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615490.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615490.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615490.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -7,3 +7,4 @@
OMIM:615490 #615490 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R HP:0003380 Decreased number of peripheral myelinated nerve fibers IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > LOSS OF MYELINATED FIBERS OMIM:615490 HPO:skoehler 18.11.2013
OMIM:615490 #615490 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL AXONAL NEUROPATHY OMIM:615490 HPO:skoehler 18.11.2013
OMIM:615490 #615490 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R HP:0001761 Pes cavus IEA IEA OMIM-CS:SKELETAL_FEET > PES CAVUS OMIM:615490 HPO:skoehler 18.11.2013
+OMIM:615490 #615490 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R HP:0001324 Muscle weakness IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > MUSCLE WEAKNESS AND ATROPHY, UPPER AND LOWER LIMBS OMIM:615490 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615500.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615500.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615500.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -8,3 +8,5 @@
OMIM:615500 #615500 CILIARY DYSKINESIA, PRIMARY, 26; CILD26;;CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS HP:0200073 Respiratory insufficiency due to defective ciliary clearance IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY DUE TO DEFECTIVE CILIARY CLEARANCE OMIM:615500 HPO:skoehler 18.11.2013
OMIM:615500 #615500 CILIARY DYSKINESIA, PRIMARY, 26; CILD26;;CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS HP:0004469 Chronic bronchitis IEA IEA OMIM-CS:RESPIRATORY_AIRWAYS > CHRONIC BRONCHITIS OMIM:615500 HPO:skoehler 18.11.2013
OMIM:615500 #615500 CILIARY DYSKINESIA, PRIMARY, 26; CILD26;;CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS HP:0002110 Bronchiectasis IEA IEA OMIM-CS:RESPIRATORY_LUNGS > BRONCHIECTASIS OMIM:615500 HPO:skoehler 18.11.2013
+OMIM:615500 #615500 CILIARY DYSKINESIA, PRIMARY, 26; CILD26;;CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS HP:0000789 Infertility IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > INFERTILITY DUE TO IMMOTILE SPERM OMIM:615500 HPO:skoehler 24.06.2014
+OMIM:615500 #615500 CILIARY DYSKINESIA, PRIMARY, 26; CILD26;;CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS HP:0012207 Reduced sperm motility IEA IEA OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, MALE > INFERTILITY DUE TO IMMOTILE SPERM OMIM:615500 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615502.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615502.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615502.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -13,3 +13,4 @@
OMIM:615502 #615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY OMIM:615502 HPO:skoehler 18.11.2013
OMIM:615502 #615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > FEEDING DIFFICULTIES OMIM:615502 HPO:skoehler 18.11.2013
OMIM:615502 #615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 HP:0000729 Autistic behavior IEA IEA rare OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > AUTISTIC BEHAVIOR (IN SOME PATIENTS) OMIM:615502 HPO:skoehler 04.04.2014
+OMIM:615502 #615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 HP:0001249 Intellectual disability IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, VARIABLE SEVERITY OMIM:615502 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615503.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -18,3 +18,4 @@
OMIM:615503 #615503 SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 HP:0002980 Femoral bowing IEA IEA OMIM-CS:SKELETAL_LIMBS > BOWED FEMURS OMIM:615503 HPO:skoehler 18.11.2013
OMIM:615503 #615503 SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 HP:0010454 Acetabular spurs IEA IEA OMIM-CS:SKELETAL_PELVIS > ACETABULAR SPURS OMIM:615503 HPO:skoehler 18.11.2013
OMIM:615503 #615503 SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 HP:0000256 Macrocephaly IEA IEA OMIM-CS:SKELETAL_SKULL > MACROCEPHALY OMIM:615503 HPO:skoehler 18.11.2013
+OMIM:615503 #615503 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 HP:0003026 Short long bones IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LONG BONES ON PRENATAL ULTRASOUND OMIM:615503 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615508.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615508.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615508.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -5,3 +5,6 @@
OMIM:615508 #615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS,RECURRENT INFECTIONS, AND MULTIPLE FOOD ALLERGIES;;SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;;SAM SYNDROME HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RECURRENT RESPIRATORY INFECTIONS OMIM:615508 HPO:skoehler 18.11.2013
OMIM:615508 #615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS,RECURRENT INFECTIONS, AND MULTIPLE FOOD ALLERGIES;;SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;;SAM SYNDROME HP:0001006 Hypotrichosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > HYPOTRICHOSIS OMIM:615508 HPO:skoehler 18.11.2013
OMIM:615508 #615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS,RECURRENT INFECTIONS, AND MULTIPLE FOOD ALLERGIES;;SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;;SAM SYNDROME HP:0001581 Recurrent skin infections IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > RECURRENT SKIN INFECTIONS OMIM:615508 HPO:skoehler 18.11.2013
+OMIM:615508 #615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS,AND HYPER-IgE; EPKHE;;SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;;SAM SYNDROME HP:0001019 Erythroderma IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > ERYTHRODERMA, GENERALIZED CONGENITAL OMIM:615508 HPO:skoehler 24.06.2014
+OMIM:615508 #615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS,AND HYPER-IgE; EPKHE;;SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;;SAM SYNDROME HP:0003228 Hypernatremia IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > SEVERE HYPERNATREMIA IN NEONATAL PERIOD OMIM:615508 HPO:skoehler 24.06.2014
+OMIM:615508 #615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS,AND HYPER-IgE; EPKHE;;SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;;SAM SYNDROME HP:0100792 Acantholysis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > WIDESPREAD ACANTHOLYSIS WITHIN SPINOUS AND GRANULAR LAYERS OMIM:615508 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615540.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615540.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615540.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -1,2 +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:615540 #615540 DEAFNESS, AUTOSOMAL RECESSIVE 76; DFNB76 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615540 HPO:skoehler 28.01.2014
+OMIM:615540 #615540 DEAFNESS, AUTOSOMAL RECESSIVE 76; DFNB76 HP:0000408 Progressive sensorineural hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, PROGRESSIVE SENSORINEURAL, AFFECTING HIGH FREQUENCIES OMIM:615540 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615547.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615547.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615547.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -22,3 +22,4 @@
OMIM:615547 #615547 PRADER-WILLI-LIKE SYNDROME; PWLS HP:0001371 Flexion contracture IEA IEA OMIM-CS:SKELETAL > JOINT CONTRACTURES OMIM:615547 HPO:skoehler 28.01.2014
OMIM:615547 #615547 PRADER-WILLI-LIKE SYNDROME; PWLS HP:0004283 Narrow palm IEA IEA OMIM-CS:SKELETAL_HANDS > NARROW HANDS OMIM:615547 HPO:skoehler 28.01.2014
OMIM:615547 #615547 PRADER-WILLI-LIKE SYNDROME; PWLS HP:0200055 Small hand IEA IEA OMIM-CS:SKELETAL_HANDS > SMALL HANDS OMIM:615547 HPO:skoehler 06.02.2014
+OMIM:615547 #615547 PRADER-WILLI-LIKE SYNDROME; PWLS HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > POOR FEEDING IN INFANCY OMIM:615547 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615548.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615548.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615548.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -6,3 +6,4 @@
OMIM:615548 #615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7;;HSAN VII;;INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTIONAND HYPERHIDROSIS HP:0002459 Dysautonomia IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AUTONOMIC DYSFUNCTION OMIM:615548 HPO:skoehler 28.01.2014
OMIM:615548 #615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7;;HSAN VII;;INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTIONAND HYPERHIDROSIS HP:0001270 Motor delay IEA IEA MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT, MILD OMIM:615548 HPO:skoehler 28.01.2014
OMIM:615548 #615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7;;HSAN VII;;INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTIONAND HYPERHIDROSIS HP:0000975 Hyperhidrosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERHIDROSIS OMIM:615548 HPO:skoehler 28.01.2014
+OMIM:615548 #615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7;;HSAN VII;;INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTIONAND HYPERHIDROSIS HP:0007021 Pain insensitivity IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > INSENSITIVITY TO PAIN OMIM:615548 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615553.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615553.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615553.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -10,3 +10,4 @@
OMIM:615553 #615553 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS HP:0100490 Camptodactyly of finger IEA IEA OMIM-CS:SKELETAL_HANDS > FLEXION CONTRACTURES OF THE FINGERS OMIM:615553 HPO:skoehler 28.01.2014
OMIM:615553 #615553 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS HP:0004976 Knee dislocation IEA IEA OMIM-CS:SKELETAL_LIMBS > KNEE DISLOCATION OMIM:615553 HPO:skoehler 28.01.2014
OMIM:615553 #615553 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS HP:0002827 Hip dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP DISLOCATION OMIM:615553 HPO:skoehler 28.01.2014
+OMIM:615553 #615553 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS HP:0001250 Seizures IEA IEA OMIM-CS:MISCELLANEOUS > SEIZURE ONSET BETWEEN 3 AND 11 YEARS OMIM:615553 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615560.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615560.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615560.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -12,3 +12,4 @@
OMIM:615560 #615560 OTOFACIOCERVICAL SYNDROME 2; OFC2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615560 HPO:skoehler 28.01.2014
OMIM:615560 #615560 OTOFACIOCERVICAL SYNDROME 2; OFC2 HP:0002342 Intellectual disability, moderate IEA IEA rare OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MODERATE (IN SOME PATIENTS) OMIM:615560 HPO:skoehler 28.01.2014
OMIM:615560 #615560 OTOFACIOCERVICAL SYNDROME 2; OFC2 HP:0001182 Tapered finger IEA IEA rare OMIM-CS:SKELETAL_HANDS > TAPERING FINGERS (IN SOME PATIENTS) OMIM:615560 HPO:skoehler 28.01.2014
+OMIM:615560 #615560 OTOFACIOCERVICAL SYNDROME 2; OFC2 HP:0000410 Mixed hearing impairment IEA IEA OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, MIXED CONDUCTIVE-SENSORINEURAL OMIM:615560 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615573.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615573.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615573.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -6,3 +6,4 @@
OMIM:615573 #615573 NEPHROTIC SYNDROME, TYPE 9; NPHS9 HP:0000093 Proteinuria IEA IEA OMIM-CS:LABORATORY ABNORMALITIES > PROTEINURIA OMIM:615573 HPO:skoehler 28.01.2014
OMIM:615573 #615573 NEPHROTIC SYNDROME, TYPE 9; NPHS9 HP:0003676 Progressive disorder IEA IEA OMIM-CS:MISCELLANEOUS > PROGRESSIVE DISORDER OMIM:615573 HPO:skoehler 28.01.2014
OMIM:615573 #615573 NEPHROTIC SYNDROME, TYPE 9; NPHS9 HP:0000969 Edema IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > EDEMA OMIM:615573 HPO:skoehler 28.01.2014
+OMIM:615573 #615573 NEPHROTIC SYNDROME, TYPE 9; NPHS9 HP:0000100 Nephrotic syndrome IEA IEA OMIM-CS:GENITOURINARY_KIDNEYS > NEPHROTIC SYNDROME, STEROID-RESISTANT OMIM:615573 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615582.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615582.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615582.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -12,3 +12,4 @@
OMIM:615582 #615582 RIENHOFF SYNDROME; RNHF HP:0003199 Decreased muscle mass IEA IEA OMIM-CS:MUSCLE, SOFT TISSUE > DECREASED MUSCLE MASS OMIM:615582 HPO:skoehler 28.01.2014
OMIM:615582 #615582 RIENHOFF SYNDROME; RNHF HP:0001265 Hyporeflexia IEA IEA OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > DECREASED DEEP TENDON REFLEXES OMIM:615582 HPO:skoehler 28.01.2014
OMIM:615582 #615582 RIENHOFF SYNDROME; RNHF HP:0010665 Bilateral coxa valga IEA IEA OMIM-CS:SKELETAL_PELVIS > BILATERAL COXA VALGA OMIM:615582 HPO:skoehler 28.01.2014
+OMIM:615582 #615582 RIENHOFF SYNDROME; RNHF HP:0001763 Pes planus IEA IEA OMIM-CS:SKELETAL_FEET > BILATERAL PES PLANUS OMIM:615582 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615599.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615599.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615599.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -11,3 +11,4 @@
OMIM:615599 #615599 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40 HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:615599 HPO:skoehler 06.02.2014
OMIM:615599 #615599 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > THIN CORPUS CALLOSUM OMIM:615599 HPO:skoehler 06.02.2014
OMIM:615599 #615599 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40 HP:0001760 Abnormality of the foot IEA IEA rare OMIM-CS:SKELETAL_FEET > FOOT DEFORMITIES (1 FAMILY) OMIM:615599 HPO:skoehler 06.02.2014
+OMIM:615599 #615599 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40 HP:0002465 Poor speech IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > POOR SPEECH OR NO SPEECH OMIM:615599 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615607.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615607.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615607.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -6,3 +6,4 @@
OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE SEVERITY OMIM:615607 HPO:skoehler 25.02.2014
OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615607 HPO:skoehler 25.02.2014
OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0000964 Eczema IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > DERMATITIS OMIM:615607 HPO:skoehler 25.02.2014
+OMIM:615607 #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > PRIMARY IMMUNODEFICIENCY OMIM:615607 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615615.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615615.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615615.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -5,3 +5,4 @@
OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:615615 HPO:skoehler 06.02.2014
OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0003828 Variable expressivity IEA IEA OMIM-CS:MISCELLANEOUS > VARIABLE SEVERITY OMIM:615615 HPO:skoehler 06.02.2014
OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615615 HPO:skoehler 06.02.2014
+OMIM:615615 #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > PRIMARY IMMUNODEFICIENCY OMIM:615615 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615616.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615616.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615616.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -1,2 +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:615616 #615616 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; ARVC13 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615616 HPO:skoehler 06.02.2014
+OMIM:615616 #615616 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; ARVC13 HP:0011710 Bundle branch block IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > LEFT BUNDLE-BRANCH BLOCK MORPHOLOGY WITH SUPERIOR AXIS DEVIATION OMIM:615616 HPO:skoehler 24.06.2014
+OMIM:615616 #615616 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; ARVC13 HP:0004756 Ventricular tachycardia IEA IEA OMIM-CS:CARDIOVASCULAR_HEART > VENTRICULAR TACHYCARDIA, SUSTAINED OR NONSUSTAINED OMIM:615616 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615617.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615617.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615617.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -6,3 +6,4 @@
OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:615617 HPO:skoehler 06.02.2014
OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0003593 Infantile onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET IN INFANCY OMIM:615617 HPO:skoehler 06.02.2014
OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT OMIM:615617 HPO:skoehler 06.02.2014
+OMIM:615617 #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE HP:0002721 Immunodeficiency IEA IEA OMIM-CS:IMMUNOLOGY > PRIMARY IMMUNODEFICIENCY OMIM:615617 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615631.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615631.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615631.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -13,3 +13,4 @@
OMIM:615631 #615631 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B;;CDA, TYPE Ib HP:0001792 Small nail IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_NAILS > NAIL HYPOPLASIA (IN SOME PATIENTS) OMIM:615631 HPO:skoehler 25.02.2014
OMIM:615631 #615631 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B;;CDA, TYPE Ib HP:0000952 Jaundice IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > JAUNDICE OMIM:615631 HPO:skoehler 25.02.2014
OMIM:615631 #615631 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B;;CDA, TYPE Ib HP:0000980 Pallor IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALLOR OMIM:615631 HPO:skoehler 25.02.2014
+OMIM:615631 #615631 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B;;CDA, TYPE Ib HP:0012132 Erythroid hyperplasia IEA IEA OMIM-CS:HEMATOLOGY > ERYTHROID HYPERPLASIA SEEN ON BONE MARROW BIOPSY OMIM:615631 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615633.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615633.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615633.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -10,3 +10,5 @@
OMIM:615633 #615633 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11 HP:0002093 Respiratory insufficiency IEA IEA OMIM-CS:RESPIRATORY_LUNG > RESPIRATORY INSUFFICIENCY OMIM:615633 HPO:skoehler 25.02.2014
OMIM:615633 #615633 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11 HP:0100259 Postaxial polydactyly IEA IEA rare OMIM-CS:SKELETAL_HANDS > POSTAXIAL POLYDACTYLY (RARE) OMIM:615633 HPO:skoehler 25.02.2014
OMIM:615633 #615633 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11 HP:0003026 Short long bones IEA IEA OMIM-CS:SKELETAL_LIMBS > SHORT LONG BONES OMIM:615633 HPO:skoehler 25.02.2014
+OMIM:615633 #615633 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11 HP:0000888 Horizontal ribs IEA IEA OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > SHORT, HORIZONTAL RIBS OMIM:615633 HPO:skoehler 24.06.2014
+OMIM:615633 #615633 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11 HP:0000774 Narrow chest IEA IEA OMIM-CS:CHEST_EXTERNAL FEATURES > LONG, NARROW THORAX OMIM:615633 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615663.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615663.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615663.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -27,3 +27,5 @@
OMIM:615663 #615663 WARBURG MICRO SYNDROME 4; WARBM4 HP:0005484 Postnatal microcephaly IEA IEA OMIM-CS:SKELETAL_SKULL > POSTNATAL MICROCEPHALY OMIM:615663 HPO:skoehler 04.04.2014
OMIM:615663 #615663 WARBURG MICRO SYNDROME 4; WARBM4 HP:0001007 Hirsutism IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_HAIR > HIRSUTISM (RARE) OMIM:615663 HPO:skoehler 04.04.2014
OMIM:615663 #615663 WARBURG MICRO SYNDROME 4; WARBM4 HP:0000294 Low anterior hairline IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > LOW ANTERIOR HAIRLINE OMIM:615663 HPO:skoehler 04.04.2014
+OMIM:615663 #615663 WARBURG MICRO SYNDROME 4; WARBM4 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PROGRESSIVE CEREBELLAR ATROPHY OMIM:615663 HPO:skoehler 24.06.2014
+OMIM:615663 #615663 WARBURG MICRO SYNDROME 4; WARBM4 HP:0007095 Frontoparietal polymicrogyria IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BILATERAL FRONTOPARIETAL POLYMICROGYRIA OMIM:615663 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615665.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615665.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615665.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -10,3 +10,4 @@
OMIM:615665 #615665 JOUBERT SYNDROME 22; JBTS22 HP:0001263 Global developmental delay IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:615665 HPO:skoehler 13.04.2014
OMIM:615665 #615665 JOUBERT SYNDROME 22; JBTS22 HP:0001162 Postaxial hand polydactyly IEA IEA OMIM-CS:SKELETAL_FEET > POLYDACTYLY, POSTAXIAL OMIM:615665 HPO:skoehler 13.04.2014
OMIM:615665 #615665 JOUBERT SYNDROME 22; JBTS22 HP:0001159 Syndactyly IEA IEA OMIM-CS:SKELETAL_FEET > SYNDACTYLY OMIM:615665 HPO:skoehler 13.04.2014
+OMIM:615665 #615665 JOUBERT SYNDROME 22; JBTS22 HP:0002419 Molar tooth sign on MRI IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MOLAR TOOTH SIGN ON BRAIN IMAGING OMIM:615665 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615704.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615704.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615704.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -9,3 +9,5 @@
OMIM:615704 #615704 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS; POIKTMP;;POIKILODERMA, HEREDITARY SCLEROSING, WITH TENDON AND PULMONARY INVOLVEMENT HP:0002650 Scoliosis IEA IEA rare OMIM-CS:SKELETAL_SPINE > SCOLIOSIS (IN SOME PATIENTS) OMIM:615704 HPO:skoehler 04.05.2014
OMIM:615704 #615704 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS; POIKTMP;;POIKILODERMA, HEREDITARY SCLEROSING, WITH TENDON AND PULMONARY INVOLVEMENT HP:0002164 Nail dysplasia IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_NAILS > NAIL DYSPLASIA (RARE) OMIM:615704 HPO:skoehler 04.05.2014
OMIM:615704 #615704 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS; POIKTMP;;POIKILODERMA, HEREDITARY SCLEROSING, WITH TENDON AND PULMONARY INVOLVEMENT HP:0001055 Erysipelas IEA IEA rare OMIM-CS:SKIN, NAILS, HAIR_SKIN > ERYSIPELAS (IN SOME PATIENTS) OMIM:615704 HPO:skoehler 04.05.2014
+OMIM:615704 #615704 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS; POIKTMP;;POIKILODERMA, HEREDITARY SCLEROSING, WITH TENDON AND PULMONARY INVOLVEMENT HP:0001596 Alopecia IEA IEA OMIM-CS:SKIN, NAILS, HAIR_HAIR > HYPOTRICHOSIS AND/OR ALOPECIA, PRIMARILY INVOLVING SCALP HAIR, EYEBROWS, OMIM:615704 HPO:skoehler 24.06.2014
+OMIM:615704 #615704 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS; POIKTMP;;POIKILODERMA, HEREDITARY SCLEROSING, WITH TENDON AND PULMONARY INVOLVEMENT HP:0000966 Hypohidrosis IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPOHIDROSIS AND/OR HEAT INTOLERANCE OMIM:615704 HPO:skoehler 24.06.2014
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615735.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615735.tab 2014-06-25 06:55:31 UTC (rev 5170)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-615735.tab 2014-06-25 07:38:54 UTC (rev 5171)
@@ -1,2 +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:615735 #615735 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL DOMINANT OMIM:615735 HPO:skoehler 04.05.2014
+OMIM:615735 #615735 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD HP:0000982 Palmoplantar keratoderma IEA IEA OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALMOPLANTAR KERATODERMA, FOCAL OMIM:615735 HPO:skoehler 24.06.2014
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From: <cmu...@us...> - 2014-06-23 17:05:52
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Revision: 5169
http://sourceforge.net/p/obo/svn/5169
Author: cmungall
Date: 2014-06-23 17:05:41 +0000 (Mon, 23 Jun 2014)
Log Message:
-----------
new release
Added Paths:
-----------
uberon/releases/2014-06-21/
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