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DO Term : punctate palmoplantar keratoderma type III [DOID:0060362] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.

synonyms:
SNOMEDCT_US_2023_03_01:111029001,
acrokeratoelastoidosis of Costa,
punctate palmoplantar hyperkeratosis type 3,
OMIM:101850,
punctate palmoplantar keratoderma type 3,
MESH:C535653,
101850,
ORDO:38,
UMLS_CUI:C0545044

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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