WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:4367 apparent mineralocorticoid excess syndrome Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
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1 Ontology

Name
Disease Ontology

7 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 involves 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: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:4367 apparent mineralocorticoid excess syndrome A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.

6 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:1701 DOID:4367
is_a DOID:655 DOID:4367
is_a DOID:0014667 DOID:4367
is_a DOID:4 DOID:4367
is_a DOID:630 DOID:4367
is_a DOID:3146 DOID:4367

5 Synonyms

Name Type
11-beta-hydroxysteroid dehydrogenase deficiency type 2 synonym
cortisol 11-beta-ketoreductase deficiency synonym
syndrome of apparent mineralocorticoid excess synonym
Ulick syndrome synonym
DOID:0090121 alt_id