Experimental Factor Ontology

Last uploaded: June 18, 2024
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Preferred Name

anencephaly 1
Synonyms

isolated anencephaly/exencephaly

anencephaly 1

anencephaly

ANPH

absence of a large part of the brain and the skull
Definitions

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
ID

http://purl.obolibrary.org/obo/MONDO_0008791
database_cross_reference

SCTID:89369001

OMIM:206500

Orphanet:1048

GARD:5808

ICD9:740.0
definition

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
exactMatch

http://purl.obolibrary.org/obo/Orphanet_1048

http://identifiers.org/snomedct/89369001

https://omim.org/entry/206500
has_broad_synonym

anencephaly

ANPH
has_exact_synonym

isolated anencephaly/exencephaly

anencephaly 1
has_related_synonym

absence of a large part of the brain and the skull
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/3684

https://github.com/monarch-initiative/mondo/issues/4616

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521
id

MONDO:0008791
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_morphological_anomaly

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease
label

anencephaly 1
notation

MONDO:0008791
prefLabel

anencephaly 1
subClassOf

http://purl.obolibrary.org/obo/MONDO_0015159

http://purl.obolibrary.org/obo/MONDO_0000819
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508
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