ZFIN Human Disease: erythrokeratodermia variabilis et progressiva 4

OBO ID: DOID:0080250

Term Name:	erythrokeratodermia variabilis et progressiva 4		Search Ontology:
Synonyms:
Definition:	An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/28575652/
References:	OMIM:617526
Ontology:	Human Disease ( DOID:0080250 )

Relationships

is a type of:	autosomal recessive disease erythrokeratodermia variabilis autosomal recessive disease erythrokeratodermia variabilis Show first 5 Terms

OTHER erythrokeratodermia variabilis et progressiva 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KDSR	kdsr	Erythrokeratodermia variabilis et progressiva 4	617526

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)