Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619082 http://purl.bioontology.org/ontology/OMIM/619082
Preferred Name	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1
Synonyms	MRCS1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MRCS1
prefLabel	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1
Gene Symbol	MRCS1 ARL2
Scope Statement	Based on report of a Chinese father and 3 daughters (last curated October 2020) [MISCELLANEOUS] Caused by mutation in the ADP-ribosylation factor-like GTPase-2 gene (ARL2, 601175.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU072226 http://purl.bioontology.org/ontology/OMIM/MTHU036530 http://purl.bioontology.org/ontology/OMIM/MTHU072227
tui	T047
Gene Locus	11q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619082
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5436769
OMIM Entry Type	3
OMIM MimType Value	pound

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