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Timothy syndrome

Go to external page 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 ]

Synonyms: long QT syndrome-syndactyly syndrome Timothy syndrome TIMOTHY syndrome TS

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C536962 (Orphanet:65283/e)
  • UMLS:C1832916 (MONDO:equivalentTo)
  • DOID:0060173 (MONDO:equivalentTo)
  • Orphanet:65283 (OMIM:601005)
  • OMIM:601005 (Orphanet:65283/e)
  • NORD:1772 (MONDO:NORD)
  • GARD:9294 (MONDO:GARD)
  • NCIT:C142894 (MONDO:equivalentTo)
  • MEDGEN:331395 (MONDO:equivalentTo)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, matrix_txgnn_grouping_member, rare, mondo_top_grouping_cardiovascular_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_cardiovascular_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, harrisons_view_member, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

exactMatch

https://omim.org/entry/601005

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

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

http://identifiers.org/medgen/331395

http://identifiers.org/mesh/C536962

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

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

excluded subClassOf

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

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