Menu
▾
▴
[Obo-svn-commit] SF.net SVN: obo:[2137] phenotype-commons/annotations/OMIM/ omim-geno-pheno-ncbo.obo
|
From: <cmu...@us...> - 2008-09-28 17:00:33
|
Revision: 2137
http://obo.svn.sourceforge.net/obo/?rev=2137&view=rev
Author: cmungall
Date: 2008-09-28 17:00:24 +0000 (Sun, 28 Sep 2008)
Log Message:
-----------
Added Paths:
-----------
phenotype-commons/annotations/OMIM/omim-geno-pheno-ncbo.obo
Added: phenotype-commons/annotations/OMIM/omim-geno-pheno-ncbo.obo
===================================================================
--- phenotype-commons/annotations/OMIM/omim-geno-pheno-ncbo.obo (rev 0)
+++ phenotype-commons/annotations/OMIM/omim-geno-pheno-ncbo.obo 2008-09-28 17:00:24 UTC (rev 2137)
@@ -0,0 +1,17914 @@
+format-version: 1.2
+date: 09:09:2008 17:16
+autogenerated-by: /Users/cjm/cvs/go-dev/go-perl/scripts/go2fmt.pl
+
+[Term]
+id: OMIM:108730
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:487
+
+[Term]
+id: OMIM:108730.0001
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:487
+
+[Term]
+id: OMIM:108730.0002/OMIM:108730.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:487
+
+[Term]
+id: OMIM:108730.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:487
+
+[Term]
+id: OMIM:108730.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:487
+
+[Term]
+id: OMIM:130500
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2035
+
+[Term]
+id: OMIM:130500.0001
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2035
+
+[Term]
+id: OMIM:130500.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2035
+
+[Term]
+id: OMIM:130500.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2035
+
+[Term]
+id: OMIM:130500.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2035
+
+[Term]
+id: OMIM:166780
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:167409
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0001
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0002
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0002/OMIM:167409.0008
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0006
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0006/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0007
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0007/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0008
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0009
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0009/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0010
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0010/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0011
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:167409.0011/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:5076
+
+[Term]
+id: OMIM:177000
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0001/OMIM:177000.0002
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0006/OMIM:177000.0007
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0008
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0009
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0010
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0011
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0012
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0013
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0014
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:177000.0015
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2235
+
+[Term]
+id: OMIM:188840
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0001
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0001/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:188840
+
+[Term]
+id: OMIM:188840.0002
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0002/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0003/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0004/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0004/OMIM:188840.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0006
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0006/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0007
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0007/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0008
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0008/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0009
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0009/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0010
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0010/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0011
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7273
+
+[Term]
+id: OMIM:188840.0011/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:188840
+
+[Term]
+id: OMIM:188840.0012/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:188840
+
+[Term]
+id: OMIM:188840.0012/OMIM:188840.0012
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:188840
+
+[Term]
+id: OMIM:188840.0013/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:188840
+
+[Term]
+id: OMIM:188840.0013/OMIM:188840.0013
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:188840
+
+[Term]
+id: OMIM:191045.0001/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0002/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0006
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0007
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0008/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0009/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:191045.0010/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:7139
+
+[Term]
+id: OMIM:600725.0001/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0002/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0003/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0004/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0005/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0006/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0007/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0008/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0009/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0010/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0011/OMIM:603073
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0012/OMIM:602630
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0013/OMIM:602630.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0014
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0015
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0016/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0017
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0018
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:600725.0019
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:601653
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0001
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0002
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0006
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0007
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0008
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0009
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0010
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0011
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0012
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0013
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0014
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0015
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0015/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0015/OMIM:120140
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0016
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:601653.0016/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2138
+
+[Term]
+id: OMIM:602229
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0001
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0002
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0006
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0007
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0008
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0008/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0009
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0009/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0010
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0010/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0011
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0011/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0012/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0013/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:602229.0014/+
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6663
+
+[Term]
+id: OMIM:605522.0002
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:605522.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:605522.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:605522.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6469
+
+[Term]
+id: OMIM:608160
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0001
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0002
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0006
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0007
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0008
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0009
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0010
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0011
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0012
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608160.0013
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:6662
+
+[Term]
+id: OMIM:608210.0001
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2132
+
+[Term]
+id: OMIM:608210.0002
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2132
+
+[Term]
+id: OMIM:608210.0003
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2132
+
+[Term]
+id: OMIM:608210.0004
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2132
+
+[Term]
+id: OMIM:608210.0005
+namespace: obd_omim_genotype
+is_a: SO:0001027
+relationship: OBO_REL:variant_of NCBI_Gene:2132
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0000231^OBO_REL:inheres_in(FMA:20394)
+subject: OMIM:167409.0001
+relation: OBO_REL:influences
+description: blank
+source: PMID:7795640
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0000231^OBO_REL:inheres_in(FMA:20394)
+subject: OMIM:167409.0003
+relation: OBO_REL:influences
+description: hypertension
+source: PMID:9106533
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0000754^OBO_REL:inheres_in(FMA:20394)
+subject: OMIM:602229.0008/+
+relation: OBO_REL:influences
+description: spastic quadraplegia
+source: PMID:10482261
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0003100^OBO_REL:inheres_in(FMA:20394)
+subject: OMIM:167409.0001
+relation: OBO_REL:influences
+description: severe myopia
+source: PMID:7795640
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:20394)
+subject: OMIM:167409.0001
+relation: OBO_REL:influences
+description: bilateral coloboma
+source: PMID:7795640
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:50863)
+subject: OMIM:167409.0001
+relation: OBO_REL:influences
+description: optic nerve colombas
+source: PMID:7795640
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:50863)
+subject: OMIM:167409.0002
+relation: OBO_REL:influences
+description: optic nerve colombas - bilateral
+source: PMID:8589702
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:50863)
+subject: OMIM:167409.0003
+relation: OBO_REL:influences
+description: bilateral optic nerve coloboma
+source: PMID:9106533
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:50863)
+subject: OMIM:167409.0008
+relation: OBO_REL:influences
+description: optic nerve colobomas
+source: PMID:10533062
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:54448)
+subject: OMIM:167409.0004
+relation: OBO_REL:influences
+description: renal-colomba syndrome
+source: PMID:9106533
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:54448)
+subject: OMIM:167409.0005
+relation: OBO_REL:influences
+description: renal-colomba syndrome
+context: PM:0000019
+source: PMID:7981748
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:54448)
+subject: OMIM:167409.0006/+
+relation: OBO_REL:influences
+description: renal-colomba syndrome
+context: PM:0000003
+source: PMID:9760197
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:54448)
+subject: OMIM:167409.0007/+
+relation: OBO_REL:influences
+description: renal-colomba syndrome
+context: PM:0000003
+source: PMID:9760197
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:54448)
+subject: OMIM:167409.0009/+
+relation: OBO_REL:influences
+description: renal-colomba syndrome
+context: PM:0000025
+source: PMID:11093271
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:54448)
+subject: OMIM:167409.0010/+
+relation: OBO_REL:influences
+description: renal-colomba syndrome
+context: PM:0000025
+source: PMID:11461952
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:54448)
+subject: OMIM:167409.0011/+
+relation: OBO_REL:influences
+description: renal-colomba syndrome
+context: PM:0000025
+source: PMID:11461952
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:54448)
+subject: OMIM:602229.0005
+relation: OBO_REL:influences
+description: coloboma
+source: PMID:2280978
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: MP:0005262^OBO_REL:inheres_in(FMA:58301)
+subject: OMIM:167409.0003
+relation: OBO_REL:influences
+description: bilateral retinal coloboma
+source: PMID:9106533
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000001^OBO_REL:inheres_in(FMA:72300)^qualifier(PATO:0000460)
+subject: OMIM:608160.0005
+relation: OBO_REL:influences
+description: somatic cell mosaicism
+source: PMID:15806394
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:52753)^qualifier(PATO:0000460)
+subject: OMIM:601653.0010
+relation: OBO_REL:influences
+description: malleus anomaly
+context: PM:0000023
+source: PMID:10655545
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:52780)^qualifier(PATO:0000460)
+subject: OMIM:601653.0016/+
+relation: OBO_REL:influences
+description: cup-shaped ears
+context: PM:0000018
+source: PMID:15493068
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: cup-shaped pinnae
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653.0003
+relation: OBO_REL:influences
+description: cup-shaped pinnae
+context: PM:0000018
+source: PMID:9359046
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653.0004
+relation: OBO_REL:influences
+description: cup-shaped pinnae
+context: PM:0000018
+source: PMID:9359046
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653.0015/+
+relation: OBO_REL:influences
+description: cup-shaped pinnae
+context: PM:0000018
+source: PMID:16691597
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653.0016/+
+relation: OBO_REL:influences
+description: cup-shaped pinnae
+context: PM:0000018
+source: PMID:15493068
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:58827)^qualifier(PATO:0000460)
+subject: OMIM:601653.0015/+
+relation: OBO_REL:influences
+description: vitreous anomaly
+context: PM:0000023
+source: PMID:18177466
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:58865)^qualifier(PATO:0000460)
+subject: OMIM:601653.0008
+relation: OBO_REL:influences
+description: ocular anterior segment anomalies
+source: PMID:10655545
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:58865)^qualifier(PATO:0000460)
+subject: OMIM:601653.0009
+relation: OBO_REL:influences
+description: ANTERIOR SEGMENT ANOMALIES
+source: PMID:10655545
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:59516)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: sunken nasal root
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:59516)^qualifier(PATO:0000460)
+subject: OMIM:601653.0014
+relation: OBO_REL:influences
+description: sunken nasal root
+context: PM:0000019
+source: PMID:16441263
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:60992)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: bilateral prehelical pits
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:60992)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: preauricular fistulas just in front of the helix
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(FMA:60992)^qualifier(PATO:0000460)
+subject: OMIM:601653.0014
+relation: OBO_REL:influences
+description: preauricular fistulas just in front of the helix
+context: PM:0000019
+source: PMID:16441263
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000052^OBO_REL:inheres_in(GO:0031674)
+subject: OMIM:188840.0003/+
+relation: OBO_REL:influences
+description: predicted to disrupt a highly conserved hydrophobic core sequence of an immunoglobulin fold located in the Z disc/I band transition zone
+source: PMID:11788824
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000082^OBO_REL:inheres_in(FMA:77663)^qualifier(PATO:0000460)
+subject: OMIM:601653.0009
+relation: OBO_REL:influences
+description: bilateral persistence of the pupillary membrane
+source: PMID:10655545
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(EHDAA:571)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: branchial pits
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(EHDAA:571)^qualifier(PATO:0000460)
+subject: OMIM:601653.0003
+relation: OBO_REL:influences
+description: branchial pits
+context: PM:0000018
+source: PMID:9359046
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(EHDAA:571)^qualifier(PATO:0000460)
+subject: OMIM:601653.0004
+relation: OBO_REL:influences
+description: branchial pits
+context: PM:0000018
+source: PMID:9359046
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(EHDAA:571)^qualifier(PATO:0000460)
+subject: OMIM:601653.0015/+
+relation: OBO_REL:influences
+description: branchial pits
+context: PM:0000018
+source: PMID:16691597
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(EHDAA:571)^qualifier(PATO:0000460)
+subject: OMIM:601653.0016/+
+relation: OBO_REL:influences
+description: branchial pits
+context: PM:0000018
+source: PMID:15493068
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0001
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:9020840
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0002
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:9020840
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0005
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0006
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0007
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0010
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:10655545
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0011
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:10991693
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0012
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:52781)^qualifier(PATO:0000460)
+subject: OMIM:601653.0013
+relation: OBO_REL:influences
+description: structural defects in the outer ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0001
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:9020840
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0002
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:9020840
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0005
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0006
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0007
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0010
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:10655545
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0011
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:10991693
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0012
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56513)^qualifier(PATO:0000460)
+subject: OMIM:601653.0013
+relation: OBO_REL:influences
+description: structural defects in the middle ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: deformed auricles
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653.0003
+relation: OBO_REL:influences
+description: deformed auricles
+context: PM:0000018
+source: PMID:9359046
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653.0004
+relation: OBO_REL:influences
+description: deformed auricles
+context: PM:0000018
+source: PMID:9359046
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653.0015/+
+relation: OBO_REL:influences
+description: deformed auricles
+context: PM:0000018
+source: PMID:16691597
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:56580)^qualifier(PATO:0000460)
+subject: OMIM:601653.0016/+
+relation: OBO_REL:influences
+description: deformed auricles
+context: PM:0000018
+source: PMID:15493068
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0001
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:9020840
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0002
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:9020840
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0005
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0006
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0007
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0010
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:10655545
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0011
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:10991693
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0012
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60909)^qualifier(PATO:0000460)
+subject: OMIM:601653.0013
+relation: OBO_REL:influences
+description: structural defects in the inner ear
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000141^OBO_REL:inheres_in(FMA:60992)^qualifier(PATO:0000460)
+subject: OMIM:601653.0015
+relation: OBO_REL:influences
+description: simple helices
+context: PM:0000023
+source: PMID:16691597
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000300^OBO_REL:inheres_in(FMA:52751)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: stapes fixation
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000318^OBO_REL:inheres_in(FMA:58611)
+subject: OMIM:602229.0001
+relation: OBO_REL:influences
+description: blue irides with grey speckles
+source: PMID:9462749
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000323^OBO_REL:inheres_in(FMA:53667)
+subject: OMIM:602229.0001
+relation: OBO_REL:influences
+description: white hair color
+source: PMID:9462749
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000323^OBO_REL:inheres_in(FMA:53667)
+subject: OMIM:602229.0004
+relation: OBO_REL:influences
+description: white hair color
+context: PM:0000023
+source: PMID:9462749
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000374^OBO_REL:inheres_in(FMA:25047)^OBO_REL:towards(FMA:25048)^qualifier(PATO:0000460)
+subject: OMIM:608160.0010
+relation: OBO_REL:influences
+description: broad gap between the first and second toes
+source: PMID:12783851
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000374^OBO_REL:inheres_in(FMA:59324)^OBO_REL:towards(FMA:59323)
+subject: OMIM:602229.0008/+
+relation: OBO_REL:influences
+description: dystopia canthorum - inner corners of the eyes (canthi) are spaced farther apart than normal
+source: PMID:10482261
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000387^OBO_REL:inheres_in(EHDAA:8157)^qualifier(PATO:0000460)
+subject: OMIM:601653.0015/+
+relation: OBO_REL:influences
+description: laryngomalacia - airway obstructed
+context: PM:0000018
+source: PMID:16691597
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000403^OBO_REL:inheres_in(EHDAA:571)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: bilateral branchial cleft fistulas
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000403^OBO_REL:inheres_in(FMA:54549)^qualifier(PATO:0000460)
+subject: OMIM:601653.0015/+
+relation: OBO_REL:influences
+description: cleft palate
+context: PM:0000023
+source: PMID:18177466
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000403^OBO_REL:inheres_in(FMA:54549)^qualifier(PATO:0000460)
+subject: OMIM:608160.0006
+relation: OBO_REL:influences
+description: midline cleft palate
+source: PMID:10951468
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000406^OBO_REL:inheres_in(FMA:24949)^qualifier(PATO:0000460)
+subject: OMIM:608160.0006
+relation: OBO_REL:influences
+description: mild clinodactyly
+source: PMID:10951468
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000407^OBO_REL:inheres_in(FMA:24728)^qualifier(PATO:0000460)
+subject: OMIM:601653.0015/+
+relation: OBO_REL:influences
+description: flat face
+context: PM:0000023
+source: PMID:18177466
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000407^OBO_REL:inheres_in(FMA:52745)^qualifier(PATO:0000460)
+subject: OMIM:608160.0006
+relation: OBO_REL:influences
+description: flattened nasal bridge
+source: PMID:10951468
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000411^OBO_REL:inheres_in(FMA:24728)^qualifier(PATO:0000460)
+subject: OMIM:608160.0006
+relation: OBO_REL:influences
+description: round face
+source: PMID:10951468
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000419^OBO_REL:inheres_in(FMA:5884^OBO_REL:part_of(FMA:14544))
+subject: OMIM:602229.0002
+relation: OBO_REL:influences
+description: number of ganglia was dramatically reduced
+source: PMID:9462749
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000419^OBO_REL:inheres_in(FMA:7574)^qualifier(PATO:0000460)
+subject: OMIM:608160.0003
+relation: OBO_REL:influences
+description: 7 pairs of ribs
+source: PMID:7990924
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000419^OBO_REL:inheres_in(FMA:84048^OBO_REL:part_of(FMA:14543)^OBO_REL:part_of(FMA:63252))
+subject: OMIM:602229.0011/+
+relation: OBO_REL:influences
+description: myenteric ganglion cells severely dimished throughout the colon
+source: PMID:12447940
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000419^OBO_REL:inheres_in(FMA:84048^OBO_REL:part_of(FMA:14985))
+subject: OMIM:602229.0011/+
+relation: OBO_REL:influences
+description: myenteric ganglion cells severely dimished throughout the colon
+source: PMID:12447940
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(FMA:15624)
+subject: OMIM:167409.0002
+relation: OBO_REL:influences
+description: glomerulosclerosis - partial scarring of the glomeruli
+source: PMID:8589702
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(FMA:58636)
+subject: OMIM:167409.0002
+relation: OBO_REL:influences
+description: "disc is normally present, a gray structure with an overlying pit was evident "
+source: PMID:8589702
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(FMA:63846)
+subject: OMIM:602229.0001
+relation: OBO_REL:influences
+description: pigmentary abnormalities (detailed with other entries)
+source: PMID:9462749
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(GO:0009416^OBO_REL:has_participant(FMA:58254))
+subject: OMIM:167409.0002
+relation: OBO_REL:influences
+description: lack of direct pupillary response to light stimulation of the left eye
+source: PMID:8589702
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(GO:0016049^OBO_REL:part_of(FMA:7203))
+subject: OMIM:167409.0008
+relation: OBO_REL:influences
+description: kidney cysts
+source: PMID:10533062
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(GO:0043473)
+subject: OMIM:602229
+relation: OBO_REL:influences
+description: WS - pigmentary abnormalities
+source: OMIM:602229
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(GO:0043473)
+subject: OMIM:602229.0006
+relation: OBO_REL:influences
+description: pigmentary abnormalities
+source: PMID:10762540
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(GO:0043473)
+subject: OMIM:602229.0007
+relation: OBO_REL:influences
+description: pigmentary abnormalities
+source: PMID:10762540
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000460^OBO_REL:inheres_in(GO:0043473)
+subject: OMIM:602229.0010/+
+relation: OBO_REL:influences
+description: pigmentary abnormalities
+context: PM:0000019
+source: PMID:10077527
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000461^OBO_REL:inheres_in(FMA:58865)
+subject: OMIM:167409.0002
+relation: OBO_REL:influences
+description: normal anterior eye segments
+source: PMID:8589702
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000461^OBO_REL:inheres_in(FMA:9462)
+subject: OMIM:188840.0012/+
+relation: OBO_REL:influences
+description: heterozygous parents were clinically unaffected
+source: PMID:17444505
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000461^OBO_REL:inheres_in(FMA:9462)
+subject: OMIM:188840.0013/+
+relation: OBO_REL:influences
+description: heterozygous parents were clinically unaffected
+source: PMID:17444505
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000461^OBO_REL:inheres_in(GO:0046546)^qualifier(PATO:0000460)
+subject: OMIM:608160.0008
+relation: OBO_REL:influences
+description: developmentally normal boy
+source: PMID:11754051
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000462^OBO_REL:inheres_in(GO:0004198)
+subject: OMIM:188840
+relation: OBO_REL:influences
+description: LGMD2J - complete loss of calpain-3
+context: PM:0000019
+source: PMID:11294923
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000462^OBO_REL:inheres_in(GO:0004198)
+subject: OMIM:188840.0004/OMIM:188840.0004
+relation: OBO_REL:influences
+description: LGMD2J - complete loss of calpain-3
+context: PM:0000003
+source: PMID:12145747
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000462^OBO_REL:inheres_in(GO:0004198)
+subject: OMIM:188840.0005
+relation: OBO_REL:influences
+description: LGMD2J - complete loss of calpain-3
+source: PMID:12145747
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000462^OBO_REL:inheres_in(GO:0004198)
+subject: OMIM:188840.0006/+
+relation: OBO_REL:influences
+description: LGMD2J - complete loss of calpain-3
+context: PM:0000019
+source: PMID:12891679
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000462^OBO_REL:inheres_in(GO:0051602^OBO_REL:has_participant(FMA:54450))
+subject: OMIM:167409.0002
+relation: OBO_REL:influences
+description: responses were electronegative in the left eye
+source: PMID:8589702
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0003713)
+subject: OMIM:602229.0005
+relation: OBO_REL:influences
+description: Sox10 ability to coactivate transcription (with Pax3) present
+source: PMID:12668617
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046543^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0004
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:8894698
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046543^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0005
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+source: PMID:15806394
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046543^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0006
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:10951468
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046543^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0007
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:11076045
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046543^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0012
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:11323423
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046543^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0013
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:7485151
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046545^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0005
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+source: PMID:15806394
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046545^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0006
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:10951468
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046545^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0007
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:11076045
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046545^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0012
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:11323423
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0046545^OBO_REL:has_agent(FMA:67165)^OBO_REL:has_part(FMA:84056))^qualifier(PATO:0000460)
+subject: OMIM:608160.0013
+relation: OBO_REL:influences
+description: two-thirds of affected XY individuals may develop as phenotypic females
+context: PM:0000019
+source: PMID:7485151
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0065004)^qualifier(PATO:0000461)
+subject: OMIM:602229.0001
+relation: OBO_REL:influences
+description: SOX10mut formed protein-DNA complexes despite mutation
+source: PMID:9722528
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000467^OBO_REL:inheres_in(GO:0065004)^qualifier(PATO:0000461)
+subject: OMIM:602229.0004
+relation: OBO_REL:influences
+description: SOX10mut formed protein-DNA complexes despite mutation
+source: PMID:9722528
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(FMA:62983^OBO_REL:part_of(FMA:50801))
+subject: OMIM:602229.0008/+
+relation: OBO_REL:influences
+description: prominent deficiency of myelination in the entire brain
+source: PMID:10482261
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(FMA:63846^OBO_REL:part_of(FMA:61695))
+subject: OMIM:602229.0004
+relation: OBO_REL:influences
+description: hypopigmentation
+context: PM:0000023
+source: PMID:9462749
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(FMA:67257)
+subject: OMIM:602229.0001
+relation: OBO_REL:influences
+description: endogenous MITF protein levels reduced
+source: PMID:10973953
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(GO:0001822)^qualifier(PATO:0000460)
+subject: OMIM:601653
+relation: OBO_REL:influences
+description: renal abnormalities ranging from mild hypoplasia to complete absence
+context: PM:0000019
+source: OMIM:601653
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(GO:0001822)^qualifier(PATO:0000460)
+subject: OMIM:601653.0001
+relation: OBO_REL:influences
+description: renal abnormalities ranging from mild hypoplasia to complete absence
+context: PM:0000023
+source: PMID:9020840
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(GO:0001822)^qualifier(PATO:0000460)
+subject: OMIM:601653.0002
+relation: OBO_REL:influences
+description: renal abnormalities ranging from mild hypoplasia to complete absence
+context: PM:0000023
+source: PMID:9020840
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(GO:0001822)^qualifier(PATO:0000460)
+subject: OMIM:601653.0005
+relation: OBO_REL:influences
+description: renal abnormalities ranging from mild hypoplasia to complete absence
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(GO:0001822)^qualifier(PATO:0000460)
+subject: OMIM:601653.0006
+relation: OBO_REL:influences
+description: renal abnormalities ranging from mild hypoplasia to complete absence
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(GO:0001822)^qualifier(PATO:0000460)
+subject: OMIM:601653.0007
+relation: OBO_REL:influences
+description: renal abnormalities ranging from mild hypoplasia to complete absence
+context: PM:0000023
+source: PMID:9361030
+assigned_by: BBOP
+
+[Annotation]
+namespace: omim_phenotype_bbop
+object: PATO:0000468^OBO_REL:inheres_in(GO:0001822)^qualifier(PATO:0000460)
+subject: OMIM:601653.0010
+relation: OBO_REL:influences
+description: renal abnormalities ranging from mild hypoplasia to ...
[truncated message content] |