WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080931 primary localized cutaneous amyloidosis 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11.

1 Ontology

Name
Disease Ontology

10 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:0014667 disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules.
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:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:655 inherited metabolic disorder A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:9120 amyloidosis A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
DOID:0050639 primary cutaneous amyloidosis An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
DOID:0080931 primary localized cutaneous amyloidosis 2 A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050639 DOID:0080931
is_a DOID:9120 DOID:0080931
is_a DOID:655 DOID:0080931
is_a DOID:4 DOID:0080931
is_a DOID:0014667 DOID:0080931
is_a DOID:37 DOID:0080931
is_a DOID:16 DOID:0080931
is_a DOID:7 DOID:0080931
is_a DOID:630 DOID:0080931

0 Synonyms