Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
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Preferred Name

palmoplantar keratoderma and congenital alopecia 1
Synonyms

autosomal dominant palmoplantar keratoderma and congenital alopecia
Definitions

An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
ID

http://purl.obolibrary.org/obo/DOID_0111244
database_cross_reference

MESH:C537050

OMIM:104100

UMLS_CUI:C1863093

GARD:604

ORDO:1010
disease has basis in

http://purl.obolibrary.org/obo/HP_0001197
has exact synonym

autosomal dominant palmoplantar keratoderma and congenital alopecia

PPKCA Stevanovic type

PPKCA1

keratoderma-hypotrichosis-leukonychia totalis syndrome

PPK-CA, Stevanovic type

autosomal dominant palmoplantar hyperkeratosis and congenital alopecia

palmoplantar keratoderma and congenital alopecia, Stevanovic type
has_obo_namespace

disease_ontology
id

DOID:0111244
in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

palmoplantar keratoderma and congenital alopecia 1
notation

DOID:0111244
prefLabel

palmoplantar keratoderma and congenital alopecia 1
textual definition

An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
subClassOf

http://purl.obolibrary.org/obo/DOID_0080015

http://purl.obolibrary.org/obo/DOID_2121
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