Search Ontology:

Human Disease

erythrokeratodermia variabilis et progressiva 1

Term ID

DOID:0111195

Synonyms

Definition

An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. (2)

References

OMIM:133200

Ontology

Human Disease ( DOID:0111195 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease erythrokeratodermia variabilis

autosomal dominant disease autosomal recessive disease erythrokeratodermia variabilis Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations