WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110143 Bartter disease type 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.

1 Ontology

Name
Disease Ontology

9 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:18 urinary system disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
DOID:557 kidney disease A urinary system disease that is located_in the kidney.
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:447 renal tubular transport disease  
DOID:445 Bartter disease  
DOID:0110143 Bartter disease type 2 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:445 DOID:0110143
is_a DOID:0050177 DOID:0110143
is_a DOID:447 DOID:0110143
is_a DOID:557 DOID:0110143
is_a DOID:4 DOID:0110143
is_a DOID:7 DOID:0110143
is_a DOID:630 DOID:0110143
is_a DOID:18 DOID:0110143

5 Synonyms

Name Type
BARTS2 synonym
Bartter syndrome type 2 synonym
Bartter syndrome type 2 antenatal synonym
hyperprostaglandin E syndrome 2 synonym
hypokalemic alkalosis with hypercalciuria 2 antenatal synonym