Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Aarskog syndrome
Synonyms	faciodigitogenital syndrome faciogenital dysplasia Aarskog-Scott syndrome
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 Aarskog-Scott syndrome
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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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C535331	Medical Subject Headings	LOOM