WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080156 X-linked adrenal hypoplasia congenita Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.

1 Ontology

Name
Disease Ontology

11 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:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0080012 X-linked recessive disease A X-linked monogenic disease that has_material_basis_in recessive inheritance.
DOID:9553 adrenal gland disease An endocrine system disease that is located_in the adrenal gland.
DOID:3952 adrenal cortex disease An adrenal gland disease that is located_in the adrenal cortex.
DOID:10493 adrenal cortical hypofunction  
DOID:0080156 X-linked adrenal hypoplasia congenita An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:10493 DOID:0080156
is_a DOID:0080012 DOID:0080156
is_a DOID:630 DOID:0080156
is_a DOID:9553 DOID:0080156
is_a DOID:0050177 DOID:0080156
is_a DOID:4 DOID:0080156
is_a DOID:0050735 DOID:0080156
is_a DOID:28 DOID:0080156
is_a DOID:7 DOID:0080156
is_a DOID:3952 DOID:0080156

1 Synonyms

Name Type
congenital adrenal hypoplasia synonym