Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

anencephaly

Definitions

A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.

ID

http://purl.obolibrary.org/obo/DOID_0060668

database_cross_reference

GARD:5808

MESH:D000757

OMIM:206500

ORDO:1048

ICD10CM:Q00.0

definition

A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.

has exact match

MESH:D000757

has_obo_namespace

disease_ontology

id

DOID:0060668

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

anencephaly

notation

DOID:0060668

prefLabel

anencephaly

subClassOf

http://purl.obolibrary.org/obo/DOID_2490

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