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[Obo-svn-commit] SF.net SVN: obo: [1471] phenotype-commons
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From: <cmu...@us...> - 2008-02-05 22:18:42
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Revision: 1471
http://obo.svn.sourceforge.net/obo/?rev=1471&view=rev
Author: cmungall
Date: 2008-02-05 14:18:42 -0800 (Tue, 05 Feb 2008)
Log Message:
-----------
Added Paths:
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phenotype-commons/
phenotype-commons/annotations/
phenotype-commons/annotations/OMIM/
phenotype-commons/annotations/OMIM/README
phenotype-commons/annotations/OMIM/by-gene/
phenotype-commons/annotations/OMIM/by-gene/ATP2A1-OMIM-fb.tab
phenotype-commons/annotations/OMIM/by-gene/EPB41-OMIM-fb.tab
phenotype-commons/annotations/OMIM/by-gene/EXT2-OMIM-zfin.tab
phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-bbop.tab
phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-fb.tab
phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-zfin.tab
phenotype-commons/annotations/OMIM/by-gene/FECH-OMIM-fb.tab
phenotype-commons/annotations/OMIM/by-gene/PAX2-OMIM-bbop.tab
phenotype-commons/annotations/OMIM/by-gene/PAX2-OMIM-fb.tab
phenotype-commons/annotations/OMIM/by-gene/PAX2-OMIM-zfin.tab
phenotype-commons/annotations/OMIM/by-gene/SOX10-OMIM-bbop.tab
phenotype-commons/annotations/OMIM/by-gene/SOX10-OMIM-fb.tab
phenotype-commons/annotations/OMIM/by-gene/SOX10-OMIM-zfin.tab
phenotype-commons/annotations/OMIM/by-gene/SOX9-OMIM-bbop.tab
phenotype-commons/annotations/OMIM/by-gene/SOX9-OMIM-fb.tab
phenotype-commons/annotations/OMIM/by-gene/SOX9-OMIM-zfin.tab
phenotype-commons/annotations/OMIM/by-gene/TTN-OMIM-fb.tab
phenotype-commons/annotations/OMIM/by-gene/TTN-OMIM-zfin.tab
Added: phenotype-commons/annotations/OMIM/README
===================================================================
--- phenotype-commons/annotations/OMIM/README (rev 0)
+++ phenotype-commons/annotations/OMIM/README 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,9 @@
+Phenote annotations for OMIM genotypes
+
+Triple-redundant annotations performed by 3 groups:
+ FlyBase
+ ZFIN
+ BBOP
+
+
+
Added: phenotype-commons/annotations/OMIM/by-gene/ATP2A1-OMIM-fb.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-gene/ATP2A1-OMIM-fb.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-gene/ATP2A1-OMIM-fb.tab 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,17 @@
+Pub Genotype Genetic Context Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Abnormal ID Abnormal Name Description
+OMIM:108730 ATP2A1 PM:0000002 GO:0006816^OBO_REL:contained_in(GO:0016529) calcium ion transport that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myopathy
+OMIM:108730 ATP2A1 PM:0000002 GO:0005388^OBO_REL:contained_in(GO:0016529) calcium-transporting ATPase activity that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myopathy
+OMIM:108730 ATP2A1 PM:0000002 GO:0006936 muscle contraction PATO:0000762 impaired PATO:0000460 abnormal Brody Myopathy
+PMID:10914677 ATP2A1,[PRO789LEU] PM:0000002 GO:0006816^OBO_REL:contained_in(GO:0016529) calcium ion transport that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myopathy
+PMID:10914677 ATP2A1,[PRO789LEU] PM:0000002 GO:0005388^OBO_REL:contained_in(GO:0016529) calcium-transporting ATPase activity that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myoptahy
+PMID:10914677 ATP2A1,[PRO789LEU] PM:0000002 GO:0006936 muscle contraction PATO:0000762 impaired Brody Myopathy
+PMID:8841193 ATP2A1,[CYS675TER]/[IVS3DS, G-C, -2] PM:0000002 GO:0006816^OBO_REL:contained_in(GO:0016529) calcium ion transport that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myopathy
+PMID:8841193 ATP2A1,[ARG198TER] PM:0000002 GO:0005388^OBO_REL:contained_in(GO:0016529) calcium-transporting ATPase activity that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myopathy
+PMID:8841193 ATP2A1,[CYS675TER]/[IVS3DS, G-C, -2] PM:0000002 GO:0005388^OBO_REL:contained_in(GO:0016529) calcium-transporting ATPase activity that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myopathy
+PMID:8841193 ATP2A1,[ARG198TER] PM:0000002 GO:0006936 muscle contraction PATO:0000762 impaired PATO:0000460 abnormal Brody Myopathy
+PMID:8841193 ATP2A1,[ARG198TER] PM:0000002 GO:0006816^OBO_REL:contained_in(GO:0016529) calcium ion transport that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myopathy
+PMID:8841193 ATP2A1,[ARG198TER] PM:0000002 GO:0006816^OBO_REL:contained_in(GO:0016529) calcium ion transport that contained_in sarcoplasmic reticulum PATO:0000468 decreased Brody Myopathy
+PMID:8841193 ATP2A1,[CYS675TER]/[IVS3DS, G-C, -2] PM:0000002 GO:0006936 muscle contraction PATO:0000762 impaired PATO:0000460 abnormal Brody Myopathy
+PMID:9367679 ATP2A1,[1-BP DEL, 437C] PM:0000002 GO:0006816^OBO_REL:contained_in(GO:0016529) calcium ion transport that contained_in sarcoplasmic reticulum PATO:0000468 decreased
+PMID:9367679 ATP2A1,[1-BP DEL, 437C] PM:0000002 GO:0005388^OBO_REL:contained_in(GO:0016529) calcium-transporting ATPase activity that contained_in sarcoplasmic reticulum PATO:0000468 decreased
+PMID:9367679 ATP2A1,[1-BP DEL, 437C] PM:0000002 GO:0006936 muscle contraction PATO:0000762 impaired PATO:0000460 abnormal
Added: phenotype-commons/annotations/OMIM/by-gene/EPB41-OMIM-fb.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-gene/EPB41-OMIM-fb.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-gene/EPB41-OMIM-fb.tab 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,19 @@
+Pub Genotype Genetic Context Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Abnormal ID Abnormal Name Description
+OMIM:130500 EPB41 PM:0000003 FMA:62845 Erythrocyte PATO:0000947 elliptic Elliptocytosis
+OMIM:130500 EPB41 PM:0000003 FMA:9670 Blood PATO:0000460 abnormal PATO:0000460 abnormal Elliptocytosis
+OMIM:130500 EPB41 PM:0000003 GO:0005856^part_of(FMA:62845) cytoskeleton that is part of Erythrocyte PATO:0000460 abnormal PATO:0000460 abnormal Elliptocytosis
+OMIM:130500 EPB41 PM:0000003 GO:0006814^OBO_REL:contained_in(FMA:62845) sodium ion transport that contained_in Erythrocyte PATO:0000460 abnormal PATO:0000460 abnormal Elliptocytosis
+OMIM:130500 EPB41 PM:0000003 FMA:62845 Erythrocyte PATO:0000419 decreased number Elliptocytosis
+OMIM:130500 EPB41 PM:0000003 GO:0016020^OBO_REL:contained_in(FMA:62845) membrane that contained_in Erythrocyte PATO:0000460 abnormal PATO:0000460 abnormal Elliptocytosis
+OMIM:130500 EPB41 PM:0000003 FMA:62845 Erythrocyte PATO:0001362 fragile Elliptocytosis
+PMID:1430200 EPB41,[MET1ARG] FMA:62845 Erythrocyte PATO:0000947 elliptic Elliptocytosis
+PMID:1430200 EPB41,[MET1ARG] FMA:7196 Spleen PATO:0001202 enlarged Elliptocytosis
+PMID:3134067 EPB41 PM:0000003 FMA:62845 Erythrocyte PATO:0000947 elliptic Elliptocytosis
+PMID:3134067 EPB41,[240-BP DUP] PM:0000003 FMA:62845 Erythrocyte PATO:0000947 elliptic Elliptocytosis
+PMID:3134067 EPB41,[240-BP DUP] PM:0000003 FMA:62845 Erythrocyte PATO:0000419 decreased number Elliptocytosis
+PMID:3134067 EPB41,[369-BP DUP] PM:0000003 FMA:62845 Erythrocyte PATO:0000947 elliptic Elliptocytosis
+PMID:3722387 EPB41,[318-BP DEL] PM:0000003 GO:0016020^OBO_REL:contained_in(FMA:62845) membrane that contained_in Erythrocyte PATO:0000460 abnormal PATO:0000460 abnormal Elliptocytosis
+PMID:3965051 EPB41,[318-BP DEL] PM:0000003 FMA:62845 Erythrocyte PATO:0000947 elliptic Elliptocytosis
+PMID:3965051 EPB41,[318-BP DEL] PM:0000003 FMA:62845 Erythrocyte PATO:0000947 elliptic Elliptocytosis
+PMID:6894932 EPB41,[318-BP DEL] PM:0000003 FMA:62845 Erythrocyte PATO:0000947 elliptic Elliptocytosis
+PMID:6894932 EPB41,[318-BP DEL] PM:0000003 FMA:62845 Erythrocyte PATO:0001362 fragile Elliptocytosis
Added: phenotype-commons/annotations/OMIM/by-gene/EXT2-OMIM-zfin.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-gene/EXT2-OMIM-zfin.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-gene/EXT2-OMIM-zfin.tab 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,36 @@
+Pub Genotype Genetic Context Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Abnormal ID Abnormal Name Description
+8782816 608210.0001 PM:0000003 FMA:24014 Metaphysis PATO:0000644 hyperplastic an exostosis is a bone growth that is abnormal or different from the underlying architecture of the bone
+8782816 608210.0001 PM:0000003 FMA:24014 Metaphysis PATO:0000650 supernumerary FMA:66780 Osteoblast
+8782816 608210.0001 PM:0000003 FMA:24014 Metaphysis PATO:0000460 abnormal
+8782816 608210.0001 PM:0000003 FMA:7474 Long bone PATO:0000644 hyperplastic
+8782816 608210.0001 PM:0000003 FMA:7476 Flat bone PATO:0000644 hyperplastic
+8782816 608210.0001 PM:0000003 FMA:9914 Vertebra PATO:0000644 hyperplastic
+8782816 608210.0001 PM:0000003 FMA:7574 Rib PATO:0000644 hyperplastic
+8894688 608210.0002 PM:0000003 FMA:24014 Metaphysis PATO:0000644 hyperplastic
+8894688 608210.0002 PM:0000003 FMA:24014 Metaphysis PATO:0000650 supernumerary FMA:66780 Osteoblast
+8894688 608210.0002 PM:0000003 FMA:24014 Metaphysis PATO:0000460 abnormal
+8894688 608210.0002 PM:0000003 FMA:7474 Long bone PATO:0000644 hyperplastic
+8894688 608210.0002 PM:0000003 FMA:7476 Flat bone PATO:0000644 hyperplastic
+8894688 608210.0002 PM:0000003 FMA:9914 Vertebra PATO:0000644 hyperplastic
+8894688 608210.0002 PM:0000003 FMA:7574 Rib PATO:0000644 hyperplastic
+8894688 608210.0003 PM:0000003 FMA:24014 Metaphysis PATO:0000644 hyperplastic
+8894688 608210.0003 PM:0000003 FMA:24014 Metaphysis PATO:0000650 supernumerary FMA:66780 Osteoblast
+8894688 608210.0003 PM:0000003 FMA:24014 Metaphysis PATO:0000460 abnormal
+8894688 608210.0003 PM:0000003 FMA:7474 Long bone PATO:0000644 hyperplastic
+8894688 608210.0003 PM:0000003 FMA:7476 Flat bone PATO:0000644 hyperplastic
+8894688 608210.0003 PM:0000003 FMA:9914 Vertebra PATO:0000644 hyperplastic
+8894688 608210.0003 PM:0000003 FMA:7574 Rib PATO:0000644 hyperplastic
+9326317 608210.0004 PM:0000003 FMA:24014 Metaphysis PATO:0000644 hyperplastic
+9326317 608210.0004 PM:0000003 FMA:24014 Metaphysis PATO:0000650 supernumerary FMA:66780 Osteoblast
+9326317 608210.0004 PM:0000003 FMA:24014 Metaphysis PATO:0000460 abnormal
+9326317 608210.0004 PM:0000003 FMA:7474 Long bone PATO:0000644 hyperplastic
+9326317 608210.0004 PM:0000003 FMA:7476 Flat bone PATO:0000644 hyperplastic
+9326317 608210.0004 PM:0000003 FMA:9914 Vertebra PATO:0000644 hyperplastic
+9326317 608210.0004 PM:0000003 FMA:7574 Rib PATO:0000644 hyperplastic
+9326317 608210.0005 PM:0000003 FMA:24014 Metaphysis PATO:0000644 hyperplastic
+9326317 608210.0005 PM:0000003 FMA:24014 Metaphysis PATO:0000650 supernumerary FMA:66780 Osteoblast
+9326317 608210.0005 PM:0000003 FMA:24014 Metaphysis PATO:0000460 abnormal
+9326317 608210.0005 PM:0000003 FMA:7474 Long bone PATO:0000644 hyperplastic
+9326317 608210.0005 PM:0000003 FMA:7476 Flat bone PATO:0000644 hyperplastic
+9326317 608210.0005 PM:0000003 FMA:9914 Vertebra PATO:0000644 hyperplastic
+9326317 608210.0005 PM:0000003 FMA:7574 Rib PATO:0000644 hyperplastic
Added: phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-bbop.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-bbop.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-bbop.tab 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,186 @@
+Pub Genotype Genetic Context Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Abnormal ID Abnormal Name Description
+PMID:998578 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:998578 OMIM:601653 PM:0000003 GO:0007275^OBO_REL:has_participant(FMA:7203) multicellular organismal development that has_participant Kidney PATO:0000396 severe
+PMID:263442 OMIM:601653 PM:0000003 GO:0007275^OBO_REL:has_participant(FMA:7203) multicellular organismal development that has_participant Kidney PATO:0000396 severe
+PMID:263442 OMIM:601653 PM:0000003 FMA:61342 Helical part of auricular cartilage MP:0001216 abnormal epidermal layer morphology
+PMID:263442 OMIM:601653 PM:0000003 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:263442 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:263442 OMIM:601653 PM:0000003 FMA:20290 External acoustic meatus PATO:0000646 malformed
+PMID:263442 OMIM:601653 PM:0000003 FMA:52781 External ear PATO:0000646 malformed
+PMID:263442 OMIM:601653 PM:0000003 FMA:60201 Cochlea PATO:0000646 malformed
+PMID:263442 OMIM:601653 PM:0000003 FMA:52750 Auditory ossicle PATO:0000646 malformed
+PMID:263442 OMIM:601653 PM:0000003 FMA:15898 Ureteropelvic junction PATO:0000599 decreased width
+PMID:263442 OMIM:601653 PM:0000003 FMA:7203 Kidney PATO:0000640 dysplastic
+PMID:263442 OMIM:601653 PM:0000003 FMA:7159 Urinary system PATO:0000460 abnormal
+PMID:657583 OMIM:601653 FMA:75641 Apex of cochlea PATO:0000645 hypoplastic
+PMID:657583 OMIM:601653 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:657583 OMIM:601653 FMA:52751 Stapes PATO:0000300 immobile
+PMID:657583 OMIM:601653 FMA:52780 Ear PATO:0000460 abnormal
+PMID:657583 OMIM:601653 FMA:56580 Pinna PATO:0000625 inverted
+PMID:657583 OMIM:601653 PM:0000003 FMA:61342 Helical part of auricular cartilage MP:0001216 abnormal epidermal layer morphology
+PMID:657583 OMIM:601653 PM:0000003 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:657583 OMIM:601653 PM:0000003 FMA:7203 Kidney PATO:0000640 dysplastic
+PMID:657583 OMIM:601653 PM:0000003 FMA:7159 Urinary system PATO:0000460 abnormal
+PMID:657583 OMIM:601653 PM:0000003 FMA:61063 Lacrimal duct PATO:0000462 absent
+PMID:6859100 OMIM:601653 PM:0000019 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:6859100 OMIM:601653 PM:0000019 GO:0007605 sensory perception of sound PATO:0001324 bilateral symmetry
+PMID:6859100 OMIM:601653 PM:0000019 FMA:61342 Helical part of auricular cartilage MP:0001216 abnormal epidermal layer morphology
+PMID:6859100 OMIM:601653 PM:0000019 FMA:9704 Ureter PATO:0000650 supernumerary
+PMID:6859100 OMIM:601653 PM:0000019 FMA:15575 Renal pelvis PATO:0000650 supernumerary
+PMID:2354548 OMIM:601653 PM:0000003 FMA:52780 Ear PATO:0000052 shape
+PMID:2354548 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000462 absent
+PMID:2354548 OMIM:601653 PM:0000003 FMA:74893 Cervical enlargement PATO:0000610 open
+PMID:2354548 OMIM:601653 PM:0000003 FMA:74893 Cervical enlargement PATO:0000610 open
+PMID:2354548 OMIM:601653 PM:0000003 FMA:61342 Helical part of auricular cartilage MP:0001216 abnormal epidermal layer morphology
+PMID:2354548 OMIM:601653 PM:0000003 FMA:61063 Lacrimal duct PATO:0000462 absent
+PMID:2354548 OMIM:601653 PM:0000019 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:2354548 OMIM:601653 PM:0000019 FMA:7203 Kidney PATO:0001324 bilateral symmetry
+PMID:2354548 OMIM:601653 PM:0000019 FMA:7203 Kidney PATO:0000640 dysplastic
+PMID:2354548 OMIM:601653 PM:0000019 FMA:24728 Face MP:0000111 cleft palate
+PMID:2354548 OMIM:601653 PM:0000019 FMA:50801 Brain PATO:0000716 decreased time
+PMID:2354548 OMIM:601653 PM:0000019 FMA:54448 Eye PATO:0000587 decreased size
+PMID:2354548 OMIM:601653 PM:0000019 GO:0007601 visual perception PATO:0000762 impaired
+PMID:2354548 OMIM:601653 PM:0000019 FMA:54448 Eye PATO:0001324 bilateral symmetry
+PMID:2354548 OMIM:601653 PM:0000019 FMA:54448 Eye PATO:0001324 bilateral symmetry
+PMID:2354548 OMIM:601653 PM:0000019 FMA:55640 Alveolar arch of maxilla PATO:0000570 increased height
+PMID:1415348 OMIM:601653 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:1415348 OMIM:601653 FMA:7203 Kidney PATO:0000462 absent
+PMID:1415348 OMIM:601653 FMA:7195 Lung PATO:0000645 hypoplastic
+PMID:1415348 OMIM:601653 FMA:56513 Middle ear PATO:0000942 underdeveloped
+PMID:1415348 OMIM:601653 FMA:52750 Auditory ossicle PATO:0000942 underdeveloped
+PMID:1415348 OMIM:601653 FMA:50868 Facial nerve PATO:0000942 underdeveloped
+PMID:1415348 OMIM:601653 FMA:54952 Facial canal PATO:0000942 underdeveloped
+PMID:1415348 OMIM:601653 FMA:53431 Cochlear nerve PATO:0000942 underdeveloped
+PMID:1415348 OMIM:601653 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:1415348 OMIM:601653 GO:0007605 sensory perception of sound PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:52750 Auditory ossicle PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:18675 Antral cavity PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 PM:0000003 FMA:61342 Helical part of auricular cartilage MP:0001216 abnormal epidermal layer morphology
+PMID:8533848 OMIM:601653 PM:0000019 FMA:60201 Cochlea PATO:0000645 hypoplastic
+PMID:8533848 OMIM:601653 PM:0000019 FMA:77821 Vestibular aqueduct PATO:0001202 enlarged
+PMID:8533848 OMIM:601653 PM:0000019 FMA:53163 Internal acoustic meatus PATO:0000408 globular
+PMID:8533848 OMIM:601653 PM:0000019 FMA:54368 Posterior cranial fossa PATO:0001032 position
+PMID:8533848 OMIM:601653 PM:0000019 FMA:77694 Promontory of tympanic cavity PATO:0001051 acute angle
+PMID:9020840 OMIM:601653.0001 PM:0000023 FMA:7203 Kidney MP:0003675 kidney cysts
+PMID:9020840 OMIM:601653.0001 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0001 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0001 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0001 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:9020840 OMIM:601653.0001 PM:0000023 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:9020840 OMIM:601653.0001 PM:0000023 GO:0001822 kidney development PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0001 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:9020840 OMIM:601653.0002 PM:0000023 FMA:7203 Kidney MP:0003675 kidney cysts
+PMID:9020840 OMIM:601653.0002 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0002 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0002 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0002 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:9020840 OMIM:601653.0002 PM:0000023 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:9020840 OMIM:601653.0002 PM:0000023 GO:0001822 kidney development PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0002 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:9359046 OMIM:601653.0003 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0003 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0003 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0003 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:9359046 OMIM:601653.0003 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:9359046 OMIM:601653.0004 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0004 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0004 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0004 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:9359046 OMIM:601653.0004 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:9359046 OMIM:601653.0005 PM:0000023 FMA:7203 Kidney MP:0003675 kidney cysts
+PMID:9359046 OMIM:601653.0005 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0005 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0005 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:9359046 OMIM:601653.0005 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:9359046 OMIM:601653.0005 PM:0000023 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:9359046 OMIM:601653.0005 PM:0000023 GO:0001822 kidney development PATO:0000460 abnormal
+PMID:9359046 OMIM:601653.0005 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:5365063 OMIM:601653.0006 PM:0000023 FMA:7203 Kidney MP:0003675 kidney cysts
+PMID:5365063 OMIM:601653.0006 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:5365063 OMIM:601653.0006 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:5365063 OMIM:601653.0006 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:5365063 OMIM:601653.0006 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:5365063 OMIM:601653.0006 PM:0000023 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:5365063 OMIM:601653.0006 PM:0000023 GO:0001822 kidney development PATO:0000460 abnormal
+PMID:5365063 OMIM:601653.0006 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:10464653 OMIM:601653.0007 PM:0000023 FMA:7203 Kidney MP:0003675 kidney cysts
+PMID:10464653 OMIM:601653.0007 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:10464653 OMIM:601653.0007 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:10464653 OMIM:601653.0007 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:10464653 OMIM:601653.0007 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:10464653 OMIM:601653.0007 PM:0000023 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:10464653 OMIM:601653.0007 PM:0000023 GO:0001822 kidney development PATO:0000460 abnormal
+PMID:10464653 OMIM:601653.0007 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:10655545 OMIM:601653.0008 FMA:54448 Eye MP:0001304 cataracts
+PMID:10655545 OMIM:601653.0008 FMA:58865 Anterior segment of eyeball PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0008 FMA:63828 Middle layer of corneal epithelium PATO:0000957 opacity
+PMID:10655545 OMIM:601653.0008 FMA:54448 Eye MP:0006233 corneal adhesion to iris
+PMID:10655545 OMIM:601653.0008 FMA:7203 Kidney PATO:0000461 normal
+PMID:10655545 OMIM:601653.0009 FMA:58235 Iris PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0009 FMA:77663 Pupillary membrane PATO:0000082 persistence
+PMID:10655545 OMIM:601653.0010 FMA:77663 Pupillary membrane PATO:0000082 persistence
+PMID:10655545 OMIM:601653.0010 FMA:54448 Eye MP:0001304 cataracts
+PMID:10655545 OMIM:601653.0010 FMA:14539^OBO_REL:contained_in(FMA:7204) Cystic duct that contained_in Right kidney PATO:0000640 dysplastic
+PMID:10655545 OMIM:601653.0010 FMA:7159 Urinary system PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0010 FMA:7159 Urinary system MP:0002986 hypocalciuria
+PMID:10655545 OMIM:601653.0010 GO:0007605 sensory perception of sound PATO:0000462 absent
+PMID:10655545 OMIM:601653.0010 FMA:52753 Malleus PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0010 FMA:76866 Cervical fascia PATO:0000610 open
+PMID:10991693 OMIM:601653.0011 FMA:7203 Kidney PATO:0000419 decreased number
+PMID:10991693 OMIM:601653.0011 FMA:7203 Kidney PATO:0000634 unilateral
+PMID:10991693 OMIM:601653.0011 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:10991693 OMIM:601653.0011 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:10991693 OMIM:601653.0011 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:10991693 OMIM:601653.0011 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:10991693 OMIM:601653.0011 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:9020840 OMIM:601653.0012 PM:0000023 FMA:7203 Kidney MP:0003675 kidney cysts
+PMID:9020840 OMIM:601653.0012 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0012 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0012 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0012 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:9020840 OMIM:601653.0012 PM:0000023 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:9020840 OMIM:601653.0012 PM:0000023 GO:0001822 kidney development PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0012 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:9020840 OMIM:601653.0013 PM:0000023 FMA:7203 Kidney MP:0003675 kidney cysts
+PMID:9020840 OMIM:601653.0013 PM:0000023 FMA:60909 Internal ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0013 PM:0000023 FMA:52781 External ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0013 PM:0000023 FMA:56513 Middle ear PATO:0000141 structure
+PMID:9020840 OMIM:601653.0013 PM:0000023 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:9020840 OMIM:601653.0013 PM:0000023 FMA:7203 Kidney PATO:0000645 hypoplastic
+PMID:9020840 OMIM:601653.0013 PM:0000023 GO:0001822 kidney development PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0013 PM:0000023 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:16441263 OMIM:601653.0014 FMA:7203 Kidney PATO:0000634 unilateral
+PMID:16441263 OMIM:601653.0014 GO:0007605 sensory perception of sound PATO:0000462 absent
+PMID:16441263 OMIM:601653.0014 GO:0007605 sensory perception of sound PATO:0001324 bilateral symmetry
+PMID:16441263 OMIM:601653.0014 FMA:24728 Face PATO:0001154 elongated
+PMID:16441263 OMIM:601653.0014 FMA:24728 Face PATO:0000599 decreased width
+PMID:16441263 OMIM:601653.0014 PM:0000003 FMA:61342 Helical part of auricular cartilage MP:0001216 abnormal epidermal layer morphology
+PMID:16441263 OMIM:601653.0014 PM:0000003 FMA:17764 Surface of cervix PATO:0000610 open
+PMID:16441263 OMIM:601653.0014 FMA:52780 Ear PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:52780 Ear PATO:0001202 enlarged
+PMID:16441263 OMIM:601653.0014 FMA:55640 Alveolar arch of maxilla PATO:0000570 increased height
+PMID:16441263 OMIM:601653.0014 FMA:25202 Shoulder PATO:0001018 physical quality
+PMID:16441263 OMIM:601653.0014 FMA:13321 Clavicle PATO:0001018 physical quality
+PMID:16441263 OMIM:601653.0014 FMA:9626 Trapezius PATO:0000645 hypoplastic
+PMID:16441263 OMIM:601653.0014 FMA:25893 Right sternoclavicular joint PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:7203 Kidney PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 GO:0030431 sleep MP:0001957 apnea
+PMID:16691597 OMIM:601653.0015 GO:0007585 respiratory gaseous exchange PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:61775 Physical anatomical entity MP:0002253 abnormal pharyngeal muscle morphology
+PMID:16691597 OMIM:601653.0015 FMA:54640^OBO_REL:agent_in(GO:0030431) Tongue that agent_in sleep PATO:0000628 mislocalised
+PMID:16691597 OMIM:601653.0015 FMA:7394 Trachea PATO:0000648 obstructed
+PMID:16691597 OMIM:601653.0015 FMA:52748 Mandible PATO:0001032 position
+PMID:16691597 OMIM:601653.0015 FMA:52748 Mandible PATO:0001032 position
+PMID:16691597 OMIM:601653.0015 PM:0000003 FMA:62955 Anatomical entity MP:0006031 abnormal branchial pouch morphology
+PMID:16691597 OMIM:601653.0015 PM:0000003 FMA:52780 Ear PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 PM:0000003 FMA:60992 Helix PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 PM:0000003 FMA:53642 Left ear PATO:0001032 position
+PMID:16691597 OMIM:601653.0015 PM:0000003 FMA:61342 Helical part of auricular cartilage MP:0001216 abnormal epidermal layer morphology
+PMID:16691597 OMIM:601653.0015 PM:0000003 FMA:58896 Compartment of neck PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 GO:0007605 sensory perception of sound PATO:0000461 normal
+PMID:15493068 OMIM:601653.0016 GO:0007605 sensory perception of sound PATO:0000468 decreased
+PMID:15493068 OMIM:601653.0016 FMA:13407 Sternocleidomastoid PATO:0000460 abnormal
+PMID:15493068 OMIM:601653.0016 FMA:77269 Angle of mouth PATO:0000616 asymmetrical
+PMID:15493068 OMIM:601653.0016 FMA:79871 Ductus arteriosus PATO:0000586 increased size
+PMID:15493068 OMIM:601653.0016 PM:0000003 FMA:61342 Helical part of auricular cartilage MP:0001216 abnormal epidermal layer morphology
+PMID:15493068 OMIM:601653.0016 PM:0000003 FMA:52780 Ear PATO:0000460 abnormal
Added: phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-fb.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-fb.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-fb.tab 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,52 @@
+Pub Genotype Genetic Context Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Abnormal ID Abnormal Name Description
+PMID:10655545 OMIM:601653.0010 FMA:7203 Kidney PATO:0000640 dysplastic
+PMID:10655545 OMIM:601653.0010 CHEBI:22984 calcium PATO:0001162 increased concentration
+PMID:10655545 OMIM:601653.0010 FMA:58241 Lens PATO:0000963 opaque
+PMID:10655545 OMIM:601653.0010 GO:0007605 sensory perception of sound PATO:0000462 absent
+PMID:10655545 OMIM:601653.0010 FMA:52753 Malleus PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0008 GO:0048592 eye morphogenesis PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0008 FMA:58238 Cornea PATO:0000963 opaque
+PMID:10655545 OMIM:601653.0009 FMA:58235 Iris PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0009 FMA:77663 Pupillary membrane PATO:0000082 persistence PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 GO:0007605 sensory perception of sound
+PMID:16441263 OMIM:601653.0014 FMA:24728 Face PATO:0000052 shape PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:54549 Palate PATO:0001594 arched
+PMID:16441263 OMIM:601653.0014 FMA:25202 Shoulder PATO:0001481 sloped
+PMID:16441263 OMIM:601653.0014 FMA:13321 Clavicle PATO:0001481 sloped
+PMID:16441263 OMIM:601653.0014 FMA:23721 Trapezium PATO:0000645 hypoplastic
+PMID:16441263 OMIM:601653.0014 FMA:52780 Ear PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:25893 Right sternoclavicular joint PATO:0001506 diastatic
+PMID:16441263 OMIM:601653.0014 FMA:7203 Kidney PATO:0001480 spongy
+PMID:9020840 OMIM:601653.0001 PM:0000003 GO:0048839 inner ear development PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0001 PM:0000003 GO:0043049 otic placode formation PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0001 PM:0000003 GO:0001656 metanephros development PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0002 PM:0000003 GO:0048839 inner ear development PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0002 PM:0000003 GO:0043049 otic placode formation PATO:0000460 abnormal
+PMID:9020840 OMIM:601653.0002 PM:0000003 GO:0001656 metanephros development PATO:0000460 abnormal
+Shimasaki: Pediat. Cardiol. 25: 411-413, 2004. OMIM:601653.0016 FMA:52780 Ear PATO:0000460 abnormal
+Shimasaki: Pediat. Cardiol. 25: 411-413, 2004. OMIM:601653.0016 FMA:13407 Sternocleidomastoid PATO:0001673 cystic
+Shimasaki: Pediat. Cardiol. 25: 411-413, 2004. OMIM:601653.0016 FMA:24728 Face PATO:0000616 asymmetrical
+Shimasaki: Pediat. Cardiol. 25: 411-413, 2004. OMIM:601653.0016 FMA:79871 Ductus arteriosus PATO:0000136 closure PATO:0000460 abnormal
+Shimasaki: Pediat. Cardiol. 25: 411-413, 2004. OMIM:601653.0016 GO:0007605 sensory perception of sound PATO:0000462 absent
+Spruijt:Am. J. Med. Genet. 140A: 1343-1345, 2006. OMIM:601653.0015 GO:0007585 respiratory gaseous exchange PATO:0000460 abnormal
+Spruijt:Am. J. Med. Genet. 140A: 1343-1345, 2006. OMIM:601653.0015 FMA:55097 Larynx PATO:0000387 soft
+Spruijt:Am. J. Med. Genet. 140A: 1343-1345, 2006. OMIM:601653.0015 FMA:46688 Pharynx PATO:0000387 soft
+Spruijt:Am. J. Med. Genet. 140A: 1343-1345, 2006. OMIM:601653.0015 FMA:54640 Tongue PATO:0000140 placement PATO:0000460 abnormal
+Spruijt:Am. J. Med. Genet. 140A: 1343-1345, 2006. OMIM:601653.0015 FMA:7393 Tracheobronchial tree PATO:0000387 soft
+Spruijt:Am. J. Med. Genet. 140A: 1343-1345, 2006. OMIM:601653.0015 FMA:52748 Mandible PATO:0000140 placement PATO:0000460 abnormal
+Spruijt:Am. J. Med. Genet. 140A: 1343-1345, 2006. OMIM:601653.0015 FMA:52780 Ear PATO:0000460 abnormal
+PMID:10991693 OMIM:601653.0011 FMA:7203 Kidney PATO:0000634 unilateral
+OMIM:113650 OMIM:601653 PM:0000003 FMA:24728 Face PATO:0000599 decreased width BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000468 decreased BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:60201 Cochlea PATO:0000646 malformed BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:52751 Stapes PATO:0000300 immobile BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:56580 Pinna PATO:0000646 malformed BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:60909 Internal ear PATO:0000460 abnormal BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:54549 Palate PATO:0000052 shape PATO:0000460 abnormal BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:54549 Palate PATO:0001594 arched BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:55022 Uvula PATO:0001572 bifid BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:7203 Kidney PATO:0000640 dysplastic BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:7203 Kidney PATO:0001673 cystic BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:15628 Collecting duct of renal tubule PATO:0000460 abnormal BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:24728 Face PATO:0001154 elongated BRANCHIOOTORENAL SYNDROME 1
+OMIM:113650 OMIM:601653 PM:0000003 FMA:54549 Palate PATO:0000403 cleft BRANCHIOOTORENAL SYNDROME 1
Added: phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-zfin.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-zfin.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-gene/EYA1-OMIM-zfin.tab 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,100 @@
+Pub Genotype Genetic Context Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Abnormal ID Abnormal Name Description
+PMID:263442 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 FMA:24775 Skin of external ear PATO:0000051 morphology PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 FMA:61063 Lacrimal duct PATO:0000599 decreased width PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 FMA:60909 Internal ear PATO:0000141 structure PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 FMA:56513 Middle ear PATO:0000141 structure PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 FMA:52781 External ear PATO:0000141 structure PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 FMA:67135 Anatomical structure MP:0002884 abnormal branchial arch morphology PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 FMA:7203 Kidney PATO:0000645 hypoplastic PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 FMA:7159 Urinary system PATO:0000001 quality PATO:0000460 abnormal
+PMID:263442 OMIM:601653 PM:0000003 GO:0001822 kidney development PATO:0000001 quality PATO:0000460 abnormal
+PMID:657583 OMIM:601653 PM:0000003 FMA:52781 External ear PATO:0000646 malformed PATO:0000460 abnormal
+PMID:657583 OMIM:601653 PM:0000003 FMA:24223 Front of neck PATO:0000610 open PATO:0000460 abnormal
+PMID:657583 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:657583 OMIM:601653 PM:0000003 FMA:7203 Kidney PATO:0000645 hypoplastic PATO:0000460 abnormal
+PMID:657583 OMIM:601653 PM:0000003 FMA:7159 Urinary system PATO:0000001 quality PATO:0000460 abnormal
+PMID:657583 OMIM:601653 PM:0000003 FMA:67135 Anatomical structure MP:0002884 abnormal branchial arch morphology PATO:0000460 abnormal
+PMID:998578 OMIM:601653 PM:0000003 GO:0001822 kidney development PATO:0000001 quality PATO:0000460 abnormal
+PMID:998578 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000001 quality PATO:0000460 abnormal
+PMID:998578 OMIM:601653 PM:0000003 FMA:24775 Skin of external ear PATO:0000051 morphology PATO:0000460 abnormal
+PMID:6859100 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:6859100 OMIM:601653 PM:0000003 FMA:24775 Skin of external ear PATO:0000051 morphology PATO:0000460 abnormal
+PMID:6859100 OMIM:601653 PM:0000003 FMA:9704 Ureter PATO:0000650 supernumerary PATO:0000460 abnormal
+PMID:6859100 OMIM:601653 PM:0000003 FMA:15575 Renal pelvis PATO:0000650 supernumerary PATO:0000460 abnormal
+PMID:2354548 OMIM:601653 PM:0000003 FMA:60909 Internal ear PATO:0000052 shape PATO:0000460 abnormal
+PMID:2354548 OMIM:601653 PM:0000003 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:2354548 OMIM:601653 PM:0000003 FMA:24223 Front of neck PATO:0000610 open PATO:0000460 abnormal
+PMID:2354548 OMIM:601653 PM:0000003 FMA:24775 Skin of external ear PATO:0000051 morphology PATO:0000460 abnormal
+PMID:2354548 OMIM:601653 PM:0000003 FMA:61063 Lacrimal duct PATO:0000599 decreased width PATO:0000460 abnormal
+PMID:2354548 OMIM:601653 PM:0000003 FMA:7203 Kidney PATO:0000645 hypoplastic PATO:0000460 abnormal
+PMID:2354548 OMIM:601653 PM:0000003 FMA:7203 Kidney PATO:0000640 dysplastic PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:7203 Kidney PATO:0000645 hypoplastic PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 GO:0001822 kidney development PATO:0000297 arrested PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:7195 Lung PATO:0000645 hypoplastic PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:56513 Middle ear PATO:0000942 underdeveloped PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:52750 Auditory ossicle PATO:0000942 underdeveloped PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:50868 Facial nerve PATO:0000942 underdeveloped PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:54952 Facial canal PATO:0000942 underdeveloped PATO:0000460 abnormal
+PMID:1415348 OMIM:601653 FMA:53431 Cochlear nerve PATO:0000942 underdeveloped PATO:0000460 abnormal
+PMID:8533848 OMIM:601653 PM:0000003 FMA:60201 Cochlea PATO:0000645 hypoplastic PATO:0000460 abnormal
+PMID:8533848 OMIM:601653 PM:0000003 FMA:77821 Vestibular aqueduct PATO:0000600 increased width PATO:0000460 abnormal
+PMID:8533848 OMIM:601653 PM:0000003 FMA:53163 Internal acoustic meatus PATO:0000411 round PATO:0000460 abnormal
+PMID:8533848 OMIM:601653 PM:0000003 FMA:54368 Posterior cranial fossa PATO:0001032 position PATO:0000460 abnormal
+PMID:8533848 OMIM:601653 PM:0000003 FMA:77694 Promontory of tympanic cavity PATO:0001051 acute angle PATO:0000460 abnormal
+PMID:10440824 OMIM:601653 FMA:7163^part_of(FMA:56513) Skin that is part of Middle ear PATO:0000621 ectopic PATO:0000460 abnormal
+PMID:10440824 OMIM:601653 FMA:50868 Facial nerve PATO:0000650 supernumerary PATO:0000460 abnormal
+PMID:10440824 OMIM:601653 FMA:67135 Anatomical structure MP:0002884 abnormal branchial arch morphology PATO:0000460 abnormal
+PMID:10440824 OMIM:601653 FMA:52780 Ear PATO:0000001 quality PATO:0000460 abnormal
+PMID:10440824 OMIM:601653 FMA:7159 Urinary system PATO:0000001 quality PATO:0000460 abnormal
+PMID:5365063 OMIM:601653.0006 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:5365063 OMIM:601653.0006 FMA:67135 Anatomical structure MP:0002884 abnormal branchial arch morphology PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0008 FMA:58241 Lens PATO:0000963 opaque PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0008 FMA:58865 Anterior segment of eyeball PATO:0000001 quality PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0008 GO:0048592 eye morphogenesis PATO:0000001 quality PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0008 FMA:58235 Iris PATO:0000642 fused with PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0009 FMA:58235 Iris PATO:0000001 quality PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0009 FMA:77663 Pupillary membrane PATO:0000082 persistence PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0009 GO:0048592 eye morphogenesis PATO:0000001 quality PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0010 FMA:58241 Lens PATO:0000963 opaque PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0010 FMA:7203 Kidney PATO:0000640 dysplastic PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0010 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0010 FMA:24223 Front of neck PATO:0000610 open PATO:0000460 abnormal
+PMID:10655545 OMIM:601653.0010 GO:0048592 eye morphogenesis PATO:0000001 quality PATO:0000460 abnormal
+PMID:10991693 OMIM:601653.0011 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:10991693 OMIM:601653.0011 FMA:67135 Anatomical structure MP:0002884 abnormal branchial arch morphology PATO:0000460 abnormal
+PMID:10991693 OMIM:601653.0011 FMA:24775 Skin of external ear PATO:0000051 morphology PATO:0000460 abnormal
+PMID:10991693 OMIM:601653.0011 FMA:7159 Urinary system PATO:0000001 quality PATO:0000460 abnormal
+PMID:10991693 OMIM:601653.0011 FMA:52781 External ear PATO:0000001 quality PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:24728 Face PATO:0001154 elongated PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:24728 Face PATO:0000599 decreased width PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:24775 Skin of external ear PATO:0000051 morphology PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:24223 Front of neck PATO:0000610 open PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:52780 Ear PATO:0001202 enlarged PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:52780 Ear PATO:0000406 curved PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:52780 Ear PATO:0000141 structure PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:25202 Shoulder PATO:0000141 structure PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:13321 Clavicle PATO:0000141 structure PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:9626 Trapezius PATO:0000645 hypoplastic PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:25893 Right sternoclavicular joint PATO:0000132 spatial PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:7203 Kidney PATO:0000001 quality PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:67135 Anatomical structure MP:0002884 abnormal branchial arch morphology PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:60909 Internal ear PATO:0000141 structure PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:56513 Middle ear PATO:0000141 structure PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:7159 Urinary system PATO:0000001 quality PATO:0000460 abnormal
+PMID:16441263 OMIM:601653.0014 FMA:23217 Pectoral girdle PATO:0000052 shape PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:55097 Larynx PATO:0000052 shape PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:7394 Trachea PATO:0000648 obstructed PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:54640 Tongue PATO:0000140 placement PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:54398 Lower jaw PATO:0001032 position PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:67135 Anatomical structure MP:0002884 abnormal branchial arch morphology PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:24775 Skin of external ear PATO:0000051 morphology PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:52780 Ear PATO:0000406 curved PATO:0000460 abnormal
+PMID:16691597 OMIM:601653.0015 FMA:53642 Left ear PATO:0001032 position PATO:0000460 abnormal
+PMID:15493068 OMIM:601653.0016 FMA:24775 Skin of external ear PATO:0000051 morphology PATO:0000460 abnormal
+PMID:15493068 OMIM:601653.0016 FMA:52780 Ear PATO:0000406 curved PATO:0000460 abnormal
+PMID:15493068 OMIM:601653.0016 GO:0007605 sensory perception of sound PATO:0000468 decreased PATO:0000460 abnormal
+PMID:15493068 OMIM:601653.0016 FMA:13407 Sternocleidomastoid PATO:0000460 abnormal PATO:0000460 abnormal
+PMID:15493068 OMIM:601653.0016 FMA:24728 Face PATO:0000052 shape PATO:0000460 abnormal
+PMID:15493068 OMIM:601653.0016 FMA:79871 Ductus arteriosus PATO:0000586 increased size PATO:0000460 abnormal
Added: phenotype-commons/annotations/OMIM/by-gene/FECH-OMIM-fb.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-gene/FECH-OMIM-fb.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-gene/FECH-OMIM-fb.tab 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,38 @@
+Pub Genotype Genetic Context Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Abnormal ID Abnormal Name Description
+OMIM:177000 FECH GO:0004325 ferrochelatase activity PATO:0000468 decreased PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH FMA:7197 Liver PATO:0001640 functional failure PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH CHEBI:15430^OBO_REL:contained_in(FMA:62971) protoporphyrin that contained_in Bile PATO:0001162 increased concentration PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH CHEBI:15430^OBO_REL:contained_in(FMA:62845) protoporphyrin that contained_in Erythrocyte PATO:0001162 increased concentration PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH CHEBI:15430^OBO_REL:contained_in(FMA:64183) protoporphyrin that contained_in Feces PATO:0001162 increased concentration PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH CHEBI:15430^OBO_REL:contained_in(FMA:7197) protoporphyrin that contained_in Liver PATO:0001162 increased concentration PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH CHEBI:15430^OBO_REL:contained_in(FMA:12274) protoporphyrin that contained_in Urine PATO:0000033 concentration of PATO:0000461 normal PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH FMA:7163 Skin PATO:0000547 photosensitive PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH FMA:7163 Skin PATO:0000322 red PROTOPORPHYRIA, ERYTHROPOIETIC
+OMIM:177000 FECH CHEBI:17855^OBO_REL:contained_in(FMA:9670) triacylglycerols that contained_in Blood PATO:0000470 increased PROTOPORPHYRIA, ERYTHROPOIETIC
+PMID:10942404 FECH,[ASN408LYS, PRO409SER, AND CYS411GLY ] CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
+PMID:11753383 FECH,[IVS3AS, T-C, -48] GO:0004325 ferrochelatase activity PATO:0000468 decreased
+PMID:1376018 FECH,[PHE417SER] GO:0004325 ferrochelatase activity PATO:0000468 decreased
+PMID:1376018 FECH,[PHE417SER] CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
+PMID:1376018 FECH,[PHE417SER] FMA:7163 Skin PATO:0000547 photosensitive
+PMID:1729699 FECH,[IVS1, C-T, -23] PM:0000003 GO:0004325 ferrochelatase activity PATO:0000468 decreased
+PMID:1729699 FECH,[IVS1, C-T, -23] PM:0000003 FMA:7163 Skin PATO:0000547 photosensitive
+PMID:1755842 FECH,[GLY65CYS]/FECH,[MET267ILE PM:0000002 GO:0004325 ferrochelatase activity PATO:0000468 decreased
+PMID:1755842 FECH,[GLY65CYS]/FECH,[MET267ILE PM:0000002 FMA:7197 Liver PATO:0000461 normal PATO:0000461 normal
+PMID:1755842 FECH,[GLY65CYS]/FECH,[MET267ILE] PM:0000002 FMA:7163 Skin PATO:0000547 photosensitive
+PMID:7910885 FECH,[IVS10, A-G, +3]/FECH,[VAL363GLY] PM:0000002 FMA:7197 Liver PATO:0001640 functional failure
+PMID:7910885 FECH,[IVS10, A-G, +3]/FECH,[VAL363GLY] PM:0000002 CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
+PMID:7910885 FECH,[IVS10, A-G, +3]/FECH,[VAL363GLY] PM:0000002 FMA:7163 Skin PATO:0000547 photosensitive
+PMID:8500787 FECH,[IVS9, G-A, +1] PM:0000003 FMA:7197 Liver PATO:0001640 functional failure
+PMID:8500787 FECH,[IVS9, G-A, +1] PM:0000003 FMA:7163 Skin PATO:0000547 photosensitive
+PMID:9649563 FECH,[IVS3, T-G, +2] PM:0000002 FMA:7197 Liver PATO:0001640 functional failure
+PMID:9649563 FECH,[IVS10DS, A-T, -3] FMA:7197 Liver PATO:0001640 functional failure
+PMID:9649563 FECH,[1-BP DEL, 1135A] FMA:7197 Liver PATO:0001640 functional failure
+PMID:9649563 FECH,[IVS2, A-G, +11] FMA:7197 Liver PATO:0001640 functional failure
+PMID:9649563 FECH,[5-BP DEL, NT580] FMA:7197 Liver PATO:0001640 functional failure
+PMID:9649563 FECH,[IVS3, A-C, +6] FMA:7197 Liver PATO:0001640 functional failure
+PMID:9649563 FECH,[IVS10DS, A-T, -3] CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
+PMID:9649563 FECH,[1-BP DEL, 1135A] CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
+PMID:9649563 FECH,[IVS2, A-G, +11] CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
+PMID:9649563 FECH,[5-BP DEL, NT580] CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
+PMID:9649563 FECH,[IVS3, T-G, +2] PM:0000002 CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
+PMID:9649563 FECH,[IVS3, A-C, +6] CHEBI:15430 protoporphyrin PATO:0001162 increased concentration
Added: phenotype-commons/annotations/OMIM/by-gene/PAX2-OMIM-bbop.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-gene/PAX2-OMIM-bbop.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-gene/PAX2-OMIM-bbop.tab 2008-02-05 22:18:42 UTC (rev 1471)
@@ -0,0 +1,124 @@
+Pub Genotype Genetic Context Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Abnormal ID Abnormal Name Description
+PMID:7795640 OMIM:167409.0001.001 SO:1000065 SO:1000065 PATO:0000460 abnormal deletion mutation (188) leads to early termination
+PMID:8589702 OMIM:167409.0002.003 FMA:58636 Left optic disc PATO:0000460 abnormal disc is normally present, a gray structure with an overlying pit was evident
+PMID:8589702 OMIM:167409.0002.003 GO:0009416^OBO_REL:has_participant(FMA:58254) response to light stimulus that has_participant Left pupil PATO:0000460 abnormal lack of direct pupillary response to light stimulation of the left eye
+PMID:8589702 OMIM:167409.0002.005 FMA:15624 Glomerulus PATO:0000460 abnormal glomerulosclerosis - partial scarring of the glomeruli
+PMID:10533062 OMIM:167409.0008.002 GO:0016049^OBO_REL:located_in(FMA:7203) cell growth that located_in Kidney PATO:0000460 abnormal kidney cysts
+PMID:8589702 OMIM:167409.0002.003 GO:0051602^OBO_REL:has_participant(FMA:54450) response to electrical stimulus that has_participant Left eye PATO:0000462 absent responses were electronegative in the left eye
+PMID:8589702 OMIM:167409.0002.003 FMA:58302 Right retina PATO:0001623 atrophied atrophic changes of the retina
+PMID:10533062 OMIM:167409.0002 FMA:54448 Eye PATO:0000618 bilateral bilateral optic colombas
+PMID:7795640 OMIM:167409.0001 FMA:50863 Optic nerve PATO:0000609 closure incomplete optic nerve colombas
+PMID:10533062 OMIM:167409.0002 FMA:54448 Eye PATO:0000609 closure incomplete optic colombas
+PMID:10533062 OMIM:167409.0002 PM:0000018 FMA:50863 Optic nerve PATO:0000609 closure incomplete optic nerve colombas
+PMID:8589702 OMIM:167409.0002.003 GO:0048048 embryonic eye morphogenesis PATO:0000609 closure incomplete retinochoroidal colobomas in the inferior fundus
+PMID:7795640 OMIM:167409.0001.001 FMA:20394 Body MP:0005262 coloboma bilateral coloboma
+PMID:7795640 OMIM:167409.0001.001 FMA:50863 Optic nerve MP:0005262 coloboma optic nerve colombas
+PMID:7795640 OMIM:167409.0001.003 FMA:50863 Optic nerve MP:0005262 coloboma optic nerve colombas
+PMID:8589702 OMIM:167409.0002.001 FMA:50863 Optic nerve MP:0005262 coloboma optic nerve colombas
+PMID:8589702 OMIM:167409.0002.002 FMA:50863 Optic nerve MP:0005262 coloboma optic nerve colombas
+PMID:8589702 OMIM:167409.0002.005 FMA:50863 Optic nerve MP:0005262 coloboma optic nerve colombas - bilateral
+PMID:9106533 OMIM:167409.0003 FMA:50863 Optic nerve MP:0005262 coloboma bilateral optic nerve coloboma
+PMID:9106533 OMIM:167409.0003 FMA:58301 Retina MP:0005262 coloboma bilateral retinal coloboma
+PMID:9106533 OMIM:167409.0004 FMA:54448 Eye MP:0005262 coloboma renal-colomba syndrome
+OMIMref167409.25 OMIM:167409.0005 PM:0000019 FMA:54448 Eye MP:0005262 coloboma renal-colomba syndrome
+PMID:10533062 OMIM:167409.0008.001 FMA:50863 Optic nerve MP:0005262 coloboma optic nerve colobomas
+PMID:10533062 OMIM:167409.0008.002 FMA:50863 Optic nerve MP:0005262 coloboma optic nerve colobomas
+PMID:9760197 [OMIM:167409.0006/+] PM:0000003 FMA:54448 Eye MP:0005262 coloboma renal-colomba syndrome
+PMID:9760197 [OMIM:167409.0007/+] PM:0000003 FMA:54448 Eye MP:0005262 coloboma renal-colomba syndrome
+PMID:11093271 [OMIM:167409.0009/+] PM:0000025 FMA:54448 Eye MP:0005262 coloboma renal-colomba syndrome
+PMID:11461952 [OMIM:167409.0010/+] PM:0000025 FMA:54448 Eye MP:0005262 coloboma renal-colomba syndrome
+PMID:11461952 [OMIM:167409.0011/+] PM:0000025 FMA:54448 Eye MP:0005262 coloboma renal-colomba syndrome
+PMID:9106533 OMIM:167409.0003 SO:1000033^located_in(SO:0000147) SO:1000033^located_in(SO:0000147) PATO:0000053 count
+PMID:9760197 OMIM:167409.0007 PM:0000003 SO:1000035 SO:1000035 PATO:0000053 count 6bp nucleotide duplication
+PMID:10533062 OMIM:167409.0008 SO:1000033^located_in(SO:0000330) SO:1000033^located_in(SO:0000330) PATO:0000053 count deletion of 1bp
+PMID:10869107 OMIM:167409.0009 PM:0000003 SO:1000034^located_in(SO:0000330) SO:1000034^located_in(SO:0000330) PATO:0000053 count insertion of two G in poly-G track
+PMID:8589702 OMIM:167409.0002.003 GO:0051602^OBO_REL:has_participant(FMA:54449) response to electrical stimulus that has_participant Right eye PATO:0000468 decreased Electroretinography was subnormal in the right eye
+PMID:10533062 OMIM:167409.0008.001 GO:0007601 visual perception PATO:0000468 decreased limited vision
+PMID:7795640 OMIM:167409.0001.003 FMA:7203 Kidney PATO:0001624 decreased functionality kidney disfunction
+PMID:8589702 OMIM:167409.0002.002 FMA:7203 Kidney PATO:0001624 decreased functionality mild renal failure
+PMID:8589702 OMIM:167409.0002.003 FMA:7203 Kidney PATO:0001624 decreased functionality renal insufficiency
+PMID:8589702 OMIM:167409.0002.004 FMA:7203 Kidney PATO:0001624 decreased functionality renal insufficiency
+PMID:9106533 OMIM:167409.0004 FMA:7203 Kidney PATO:0001624 decreased functionality renal-colomba syndrome
+OMIMref167409.25 OMIM:167409.0005 FMA:7203 Kidney PATO:0001624 decreased functionality renal-colomba syndrome
+PMID:9760197 [OMIM:167409.0006/+] PM:0000003 FMA:7203 Kidney PATO:0001624 decreased functionality renal-colomba syndrome
+PMID:9760197 [OMIM:167409.0007/+] PM:0000003 FMA:7203 Kidney PATO:0001624 decreased functionality renal-colomba syndrome
+PMID:11093271 [OMIM:167409.0009/+] FMA:7203 Kidney PATO:0001624 decreased functionality renal-colomba syndrome
+PMID:11461952 [OMIM:167409.0010/+] FMA:7203 Kidney PATO:0001624 decreased functionality reduced renal function
+PMID:11461952 [OMIM:167409.0011/+] FMA:7203 Kidney PATO:0001624 decreased functionality reduced renal function
+PMID:10533062 OMIM:167409.0002 PM:0000004 SO:0000330 SO:0000330 PATO:0000574 decreased length removal of one G in poly-G track
+PMID:7795640 OMIM:167409.0001.003 FMA:7203 Kidney PATO:0000587 decreased size small hypoplastic kidneys
+PMID:9106533 OMIM:167409.0002.003 FMA:7154 Head PATO:0000587 decreased size microcephaly
+PMID:8589702 OMIM:167409.0002.005 FMA:7203 Kidney PATO:0000587 decreased size small kidneys
+PMID:10869107 [OMIM:167409.0002/OMIM:167409.0008] PM:0000019 FMA:54448 Eye PATO:0000587 decreased size microphthalmia
+PMID:10869107 OMIM:167409.0002 PM:0000019 FMA:58301 Retina PATO:0000639 degenerate retinal degeneration
+PMID:8589702 OMIM:167409.0002.003 FMA:12513 Eyeball PATO:0000039 direction PATO:0000460 abnormal esotropia - eyes turned inward - "cross-eyes"
+PMID:10533062 OMIM:167409.0008.001 FMA:12513 Eyeball PATO:0000039 direction PATO:0000460 abnormal esotropia - eyes turning inward
+PMID:11730657 OMIM:167409 FMA:50863 Optic nerve PATO:0000640 dysplastic optic nerve dysplasia
+PMID:9760197 [OMIM:167409.0006/+] PM:0000003 FMA:58634 Optic disc PATO:0000640 dysplastic optic disc dysplasia
+PMID:9760197 [OMIM:167409.0007/+] PM:0000003 FMA:58634 Optic disc PATO:0000640 dysplastic optic disc dysplasia
+PMID:7795640 OMIM:167409.0001 FMA:12274 Urine PATO:0001574 flow PATO:0000460 abnormal abnormal urine flow - need term?
+PMID:7795640 OMIM:167409.0001.002 FMA:12274 Urine PATO:0001574 flow PATO:0000460 abnormal abnormal urine flow - need term?
+PMID:7795640 OMIM:167409.0001.003 FMA:12274 Urine PATO:0001574 flow PATO:0000460 abnormal abnormal urine flow - need term?
+PMID:10533062 OMIM:167409.0002 FMA:12274 Urine PATO:0001574 flow PATO:0000460 abnormal vesicoureteral reflux
+PMID:10533062 OMIM:167409.0008.001 FMA:12274 Urine PATO:0001574 flow PATO:0000460 abnormal abnormal urine flow - need term?
+PMID:7795640 OMIM:167409.0001.002 FMA:7203 Kidney PATO:0001640 functional failure kidney failure
+PMID:7795640 OMIM:167409.0001.004 FMA:7203 Kidney PATO:0001640 functional failure ...
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