WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0081102 familial gestational hyperthyroidism Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31.

1 Ontology

Name
Disease Ontology

10 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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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:50 thyroid gland disease An endocrine system disease that is located_in the thyroid.
DOID:7998 hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone.
DOID:0081102 familial gestational hyperthyroidism A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:7998 DOID:0081102
is_a DOID:0050736 DOID:0081102
is_a DOID:630 DOID:0081102
is_a DOID:0050177 DOID:0081102
is_a DOID:4 DOID:0081102
is_a DOID:28 DOID:0081102
is_a DOID:7 DOID:0081102
is_a DOID:50 DOID:0081102
is_a DOID:0050739 DOID:0081102

0 Synonyms