ZFIN Human Disease: palmoplantar keratoderma and congenital alopecia 1

OBO ID: DOID:0111244

Term Name:	palmoplantar keratoderma and congenital alopecia 1		Search Ontology:
Synonyms:	autosomal dominant palmoplantar hyperkeratosis and congenital alopecia autosomal dominant palmoplantar keratoderma and congenital alopecia keratoderma-hypotrichosis-leukonychia totalis syndrome palmoplantar keratoderma and congenital alopecia, Stevanovic type PPK-CA, Stevanovic type PPKCA Stevanovic type PPKCA1
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. (2)
References:	GARD:604 MESH:C537050 OMIM:104100 ORDO:1010 UMLS_CUI:C1863093
Ontology:	Human Disease ( DOID:0111244 )

Relationships

is a type of:	ectodermal dysplasia physical disorder ectodermal dysplasia physical disorder Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GJA1	gja1a gja1b	Palmoplantar keratoderma with congenital alopecia	104100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None