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DO Term : Saethre-Chotzen syndrome [DOID:14768] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.

synonyms:
101400,
OMIM:180750,
GARD:7598,
MESH:D000168,
ORDO:794,
180750,
SNOMEDCT_US_2023_03_01:390726000,
acrocephalosyndactyly type III,
NCI:C75034,
OMIM:101400,
UMLS_CUI:C0175699

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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