Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/206500 http://purl.bioontology.org/ontology/OMIM/206500
Preferred Name	ANENCEPHALY 1
Synonyms	ANPH ANPH1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ANPH ANPH1
prefLabel	ANENCEPHALY 1
Gene Symbol	ANPH1 RBCC728 TRIM36
Scope Statement	One patient with a confirmed TRIM36 mutation has been reported (last curated July 2017) [MISCELLANEOUS] Caused by mutation in the tripartite motif-containing protein 36 gene (TRIM36, 609317.0001) [MOLECULAR BASIS] Onset in utero [MISCELLANEOUS] Death in utero or perinatally [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU058304 http://purl.bioontology.org/ontology/OMIM/MTHU011716 http://purl.bioontology.org/ontology/OMIM/MTHU058303
tui	T019
Gene Locus	5q22.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	206500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0002902 C5561928
OMIM Entry Type	3
OMIM MimType Value	pound

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