WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0081060 X-linked nephrogenic diabetes insipidus Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.

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: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: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:9409 diabetes insipidus A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.
DOID:12387 nephrogenic diabetes insipidus A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
DOID:0081060 X-linked nephrogenic diabetes insipidus A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:12387 DOID:0081060
is_a DOID:0080012 DOID:0081060
is_a DOID:9409 DOID:0081060
is_a DOID:18 DOID:0081060
is_a DOID:7 DOID:0081060
is_a DOID:557 DOID:0081060
is_a DOID:0050177 DOID:0081060
is_a DOID:630 DOID:0081060
is_a DOID:0050735 DOID:0081060
is_a DOID:4 DOID:0081060

1 Synonyms

Name Type
nephrogenic diabetes insipidus type 1 synonym