Gene Expression Ontology

Last uploaded: December 16, 2015

Preferred Name	Aarskog-Scott syndrome
Synonyms	AAS
Definitions	(AAS) - A rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.
ID	http://identifiers.org/omim/305400
altLabel	AAS
definition	(AAS) - A rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.
id	OMIM:305400
notation	OMIM:305400
prefLabel	Aarskog-Scott syndrome
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/305400	REXO	SAME_URI
http://identifiers.org/omim/305400	RETO	SAME_URI
http://www.limics.org/hrdo/rdfns#pat_id_394	HRDO	LOOM
http://identifiers.org/omim/305400	REXO	LOOM
http://identifiers.org/omim/305400	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_305400	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/305400	OMIM	LOOM
http://purl.jp/bio/4/id/200906094885426809	IOBC	LOOM
http://www.orpha.net/ORDO/Orphanet_915	ORDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067148	MEDDRA	LOOM