WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050467 erythrokeratodermia variabilis Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.

1 Ontology

Name
Disease Ontology

7 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:37 skin disease An integumentary system disease that is located_in skin.
DOID:16 integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050467 erythrokeratodermia variabilis A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050177 DOID:0050467
is_a DOID:37 DOID:0050467
is_a DOID:16 DOID:0050467
is_a DOID:7 DOID:0050467
is_a DOID:630 DOID:0050467
is_a DOID:4 DOID:0050467
is_a DOID:0050467 DOID:0080248
is_a DOID:0050467 DOID:0080249
is_a DOID:0050467 DOID:0080250
is_a DOID:0050467 DOID:0080251
is_a DOID:0050467 DOID:0080766
is_a DOID:0050467 DOID:0111195

2 Synonyms

Name Type
Erythrokeratodermia Figurata Variabilis synonym
Greither Disease synonym