WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0090128 Carvajal syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.

1 Ontology

Name
Disease Ontology

9 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:3390 palmoplantar keratosis A keratosis characterized by abnormal thickening of the palms and the soles.
DOID:0050428 nonepidermolytic palmoplantar keratoderma A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
DOID:161 keratosis A skin disease characterized_by growth of keratin on the skin or mucous membranes.
DOID:0080551 Naxos disease A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
DOID:0090128 Carvajal syndrome A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080551 DOID:0090128
is_a DOID:0050428 DOID:0090128
is_a DOID:16 DOID:0090128
is_a DOID:37 DOID:0090128
is_a DOID:3390 DOID:0090128
is_a DOID:161 DOID:0090128
is_a DOID:4 DOID:0090128
is_a DOID:7 DOID:0090128

3 Synonyms

Name Type
DCWHK synonym
dilated cardiomyopathy with woolly hair and keratoderma synonym
palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair synonym