WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0061020 combined pituitary hormone deficiency 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35.

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:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:9406 hypopituitarism A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
DOID:53 pituitary gland disease An endocrine system disease that is located_in the pituitary gland.
DOID:9410 combined pituitary hormone deficiency A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone.
DOID:0061020 combined pituitary hormone deficiency 2 A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0061020
is_a DOID:9410 DOID:0061020
is_a DOID:0050739 DOID:0061020
is_a DOID:28 DOID:0061020
is_a DOID:7 DOID:0061020
is_a DOID:630 DOID:0061020
is_a DOID:4 DOID:0061020
is_a DOID:0050177 DOID:0061020
is_a DOID:53 DOID:0061020
is_a DOID:9406 DOID:0061020

1 Synonyms

Name Type
CPHD2 synonym