WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050811 congenital adrenal hyperplasia Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.

1 Ontology

Name
Disease Ontology

8 Parents

Identifier Name Description
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:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
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:1701 steroid inherited metabolic disorder A lipid metabolism disorder that involves defects in steroid metabolism.
DOID:3146 lipid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids.
DOID:0050811 congenital adrenal hyperplasia A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080015 DOID:0050811
is_a DOID:1701 DOID:0050811
is_a DOID:655 DOID:0050811
is_a DOID:4 DOID:0050811
is_a DOID:0014667 DOID:0050811
is_a DOID:630 DOID:0050811
is_a DOID:3146 DOID:0050811

3 Synonyms

Name Type
adrenal hyperplasia 1 synonym
congenital lipoid adrenal hyperplasia synonym
lipoid CAH synonym