WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0090030 corticosteroid-binding globulin deficiency Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.

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:28 endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
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:9553 adrenal gland disease An endocrine system disease that is located_in the adrenal gland.
DOID:0090030 corticosteroid-binding globulin deficiency An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050177 DOID:0090030
is_a DOID:9553 DOID:0090030
is_a DOID:630 DOID:0090030
is_a DOID:4 DOID:0090030
is_a DOID:7 DOID:0090030
is_a DOID:28 DOID:0090030

2 Synonyms

Name Type
CBG deficiency synonym
transcortin deficiency synonym