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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0009294 (MONDO:equivalentTo)
  • ICD10:I45.8 (Orphanet:65283)
  • ICD10:G72.3 (DOID:0060173)
  • OMIM:601005 (Orphanet:65283)
  • MESH:C536962 (Orphanet:65283)
  • Orphanet:65283 (OMIM:601005)
  • DOID:0060173 (MONDO:equivalentTo)
  • UMLS:C1832916 (Orphanet:65283)
  • NCIT:C142894 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

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

http://purl.obolibrary.org/obo/DOID_0060173

http://purl.obolibrary.org/obo/NCIT_C142894

http://identifiers.org/omim/601005

http://identifiers.org/mesh/C536962

http://www.orpha.net/ORDO/Orphanet_65283

http://linkedlifedata.com/resource/umls/id/C1832916

has exact synonym

long QT syndrome-syndactyly syndrome

Timothy syndrome

LQT8

long QT syndrome type 8

has related synonym

long QT syndrome with syndactyly

long QT syndrome 8

TIMOTHY syndrome

TS

id

MONDO:0010979

seeAlso

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