Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/236600 http://purl.bioontology.org/ontology/OMIM/236600
Preferred Name	HYDROCEPHALUS, CONGENITAL, 1
Synonyms	HYDROCEPHALY HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1, FORMERLY VENTRICULOMEGALY HYC1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HYDROCEPHALY HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1, FORMERLY VENTRICULOMEGALY HYC1
prefLabel	HYDROCEPHALUS, CONGENITAL, 1
Gene Symbol	CCDC88C DAPLE HKRP2 HYC1 KIAA1509 SCA40 See more See less
notation	236600
Scope Statement	Onset in utero [MISCELLANEOUS] One patient with normal psychomotor development has been reported (last curated December 2012) [MISCELLANEOUS] Caused by mutation in the coiled-coil domain-containing protein 88C (CCDC88C, 611204.0001) [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 http://purl.bioontology.org/ontology/STY/T033
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU032307 http://purl.bioontology.org/ontology/OMIM/MTHU002499 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	14q32.11
tui	T047 T033
cui	C3887608 C1531647

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