Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/216820 http://purl.bioontology.org/ontology/OMIM/216820
Preferred Name	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
Gene Symbol	COLB SALL2 HSAL2
notation	216820
Scope Statement	Based on report of one consanguineous Kuwaiti family (last curated December 2014) [MISCELLANEOUS] Caused by mutation in the SAL-like 2 gene (SALL2, 602219.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU045350 http://purl.bioontology.org/ontology/OMIM/MTHU036341 http://purl.bioontology.org/ontology/OMIM/MTHU001476 http://purl.bioontology.org/ontology/OMIM/MTHU037273 http://purl.bioontology.org/ontology/OMIM/MTHU045351 http://purl.bioontology.org/ontology/OMIM/MTHU045353 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU067559 http://purl.bioontology.org/ontology/OMIM/MTHU036896 http://purl.bioontology.org/ontology/OMIM/MTHU067560 http://purl.bioontology.org/ontology/OMIM/MTHU045349 http://purl.bioontology.org/ontology/OMIM/MTHU045352 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	14q11.1-q12
tui	T047
cui	C4011974

Delete	Subject	Author	Type	Created
No notes to display