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Metadata
ID DOID:4621
Name holoprosencephaly
Definition A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
http://en.wikipedia.org/wiki/Holoprosencephaly, http://www.ncbi.nlm.nih.gov/books/NBK1530/
Xrefs

GARD:6665

ICD10CM:Q04.2

MESH:D016142

MIM:PS236100

NCI:C74988

ORDO:2162

SNOMEDCT_US_2023_03_01:30915001

UMLS_CUI:C0079541

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Holoprosencephaly sequence [EXACT]

Parent Relationships

is_a congenital nervous system abnormality

is_a syndrome

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