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Aarskog-Scott syndrome, X-linked

Go to external page http://purl.obolibrary.org/obo/MONDO_0010589

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. [ Orphanet:915 ]

Synonyms: Aarskog syndrome, X-linked mental retardation, X-linked syndromic 16, X-linked recessive Aarskog-Scott syndrome, X-linked Aarskog-Scott syndrome, X-linked recessive

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:14921002 (MONDO:equivalentTo)
  • Orphanet:915 (MONDO:mondoIsNarrowerThanSource)
  • MESH:C535331 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • DOID:6683 (MONDO:equivalentTo)
  • MedDRA:10067148 (Orphanet:915)
  • OMIM:305400 (Orphanet:915)
  • NCIT:C129720 (MONDO:equivalentTo)
Subsets

rare, nord_rare, clingen

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10067148

exactMatch

https://omim.org/entry/305400

http://identifiers.org/snomedct/14921002

http://purl.obolibrary.org/obo/NCIT_C129720

http://purl.obolibrary.org/obo/DOID_6683

http://identifiers.org/mesh/C535331

excluded subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0020119

http://purl.obolibrary.org/obo/MONDO_0015160

has broad synonym

Aarskog-Scott syndrome

FGD

AAS

facio-digito-genital dysplasia

Aarskog-like syndrome

FGDY

faciodigitogenital syndrome

Aarskog syndrome

faciogenital dysplasia

Aarskog disease

faciodigitogenital syndrome, recessive

Scott Aarskog syndrome

has narrow synonym

mental retardation, X-linked, syndromic 16, included

mental retardation, X-linked, syndromic 16

MRXS16, included

has related synonym

Aarskog Scott syndrome

faciogenital dysplasia with attention Deficit-hyperactivity disorder

id

MONDO:0010589

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010589