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Timothy syndrome

^ http://purl.obolibrary.org/obo/MONDO_0010979

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. [ Orphanet:65283 ]

Term info

database cross reference
  • NCIT:C142894 (MONDO:equivalentTo)
  • OMIM:601005 (Orphanet:65283/e)
  • GARD:0009294 (MONDO:equivalentTo)
  • MESH:C536962 (Orphanet:65283/e)
  • DOID:0060173 (MONDO:equivalentTo)
  • Orphanet:65283 (OMIM:601005)
  • UMLS:C1832916 (Orphanet:65283/e)
Subsets

gard_rare, ordo_clinical_subtype

abbreviation
TS [ MONDO:Lexical OMIM:601005 ]

abbreviation
LQT8 [ Orphanet:65283 ]

definition

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

exactMatch

https://omim.org/entry/601005, http://purl.obolibrary.org/obo/Orphanet_65283, http://purl.obolibrary.org/obo/DOID_0060173, http://purl.obolibrary.org/obo/NCIT_C142894, http://identifiers.org/mesh/C536962, http://linkedlifedata.com/resource/umls/id/C1832916

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019171

has exact synonym

long QT syndrome-syndactyly syndrome, Timothy syndrome, TIMOTHY syndrome, TS

has related synonym

long QT syndrome with syndactyly, long QT syndrome 8, LQT8, long QT syndrome type 8

id

MONDO:0010979

seeAlso

https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome