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DO Term : orofaciodigital syndrome I [DOID:0060316] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.

synonyms:
OMIM:311200,
UMLS_CUI:C0026363,
UMLS_CUI:C0029294,
SNOMEDCT_US_2023_03_01:1779005,
311200,
SNOMEDCT_US_2023_03_01:403773005,
ORDO:2750,
Papillon-Leage-Psaume syndrome,
SNOMEDCT_US_2023_03_01:52868006,
orofaciodigital syndrome type I,
UMLS_CUI:C1510460,
ICD10CM:Q87.0,
NCI:C75481,
MESH:D009958,
orofaciodigital syndrome 1

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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