Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615414 http://purl.bioontology.org/ontology/OMIM/615414
Preferred Name	MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
Synonyms	MCPH11
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MCPH11
prefLabel	MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
Gene Symbol	MCPH11 HPH1 EDR1 RAE28 PHC1
Scope Statement	Caused by mutation in the polyhomeotic-like 1 gene (PHC1, 602978.0001) [MOLECULAR BASIS] One family has been reported (last curated September 2013) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044185 http://purl.bioontology.org/ontology/OMIM/MTHU044184 http://purl.bioontology.org/ontology/OMIM/MTHU034242 http://purl.bioontology.org/ontology/OMIM/MTHU000145
tui	T047
Gene Locus	12p13.31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615414
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3809431
OMIM Entry Type	3
OMIM MimType Value	pound

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