Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/616335 http://purl.bioontology.org/ontology/OMIM/616335
Preferred Name	MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
Synonyms	MCCRP3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MCCRP3
prefLabel	MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
Gene Symbol	GCP4 TUBGCP4 MCCRP3
notation	616335
Scope Statement	Onset at birth [MISCELLANEOUS] Three unrelated French families have been reported (last curated April 2015) [MISCELLANEOUS] Caused by mutation in the tubulin-gamma complex-associated protein 4 gene (TUBGCP4, 609610.0001) [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/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000365 http://purl.bioontology.org/ontology/OMIM/MTHU051504 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU051507 http://purl.bioontology.org/ontology/OMIM/MTHU004354 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU049263 http://purl.bioontology.org/ontology/OMIM/MTHU051506 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	15q15
tui	T047
cui	C4225362

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