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DO Term : orofaciodigital syndrome V [DOID:0060375] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.

synonyms:
OFD5,
OMIM:174300,
MESH:C557819,
ORDO:2919,
orofaciodigital syndrome Thurston type,
UMLS_CUI:C1868118,
polydactyly, postaxial, with median cleft of upper lip,
SNOMEDCT_US_2023_03_01:722105002,
174300

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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