Human Disease Ontology

Last uploaded: May 1, 2024
Preferred Name

Aarskog syndrome

Synonyms

faciodigitogenital syndrome

faciogenital dysplasia

Definitions

A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.

ID

http://purl.obolibrary.org/obo/DOID_0111824

database_cross_reference

ORDO:915

definition

A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.

has exact synonym

faciodigitogenital syndrome

faciogenital dysplasia

has_obo_namespace

disease_ontology

id

DOID:0111824

in_subset

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

label

Aarskog syndrome

notation

DOID:0111824

prefLabel

Aarskog syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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