OBO ID: DOID:0080766
Term Name: erythrokeratodermia variabilis et progressiva 6 Search Ontology:
Synonyms:
Definition: An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/30528822/
References:
Ontology: Human Disease   ( DOID:0080766 )
Relationships
is a type of:
OTHER erythrokeratodermia variabilis et progressiva 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRPM4 Erythrokeratodermia variabilis et progressiva 6 618531
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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