Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/156600 http://purl.bioontology.org/ontology/OMIM/156600
Preferred Name	MICROCORIA, CONGENITAL
Synonyms	MCOR MIOSIS, CONGENITAL CHROMOSOME 13q32 DELETION SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MCOR MIOSIS, CONGENITAL CHROMOSOME 13q32 DELETION SYNDROME
prefLabel	MICROCORIA, CONGENITAL
Gene Symbol	DEL13q32 C13DELq32 MCOR
notation	156600
Scope Statement	Contiguous gene deletion syndrome [MISCELLANEOUS] Contiguous gene syndrome caused by 35-80kb deletion of 13q21 encompassing at least TGDS (616146) and GPR180 (607787) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T019
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048600 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU048603 http://purl.bioontology.org/ontology/OMIM/MTHU048604 http://purl.bioontology.org/ontology/OMIM/MTHU039299 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU033248 http://purl.bioontology.org/ontology/OMIM/MTHU048602 http://purl.bioontology.org/ontology/OMIM/MTHU048607 http://purl.bioontology.org/ontology/OMIM/MTHU048601 http://purl.bioontology.org/ontology/OMIM/MTHU048606 http://purl.bioontology.org/ontology/OMIM/MTHU042979 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	13q32
tui	T047 T019
cui	C4225452 C1303009

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