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DO Term : pachyonychia congenita [DOID:0050449] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.

synonyms:
UMLS_CUI:C1706595,
NCI:C84986,
UMLS_CUI:C0265334,
GARD:10753,
SNOMEDCT_US_2023_03_01:39427000,
UMLS_CUI:C1721007,
Pachyonychia Congenita Type 1,
OMIM:PS167200,
PS167200,
Jackson-Lawler Type Pachyonychia Congenita,
MESH:D053549,
Jadassohn-Lewandowsky Syndrome,
ORDO:2309,
PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE

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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