WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:4184 pseudohypoparathyroidism Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.

1 Ontology

Name
Disease Ontology

6 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:896 metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
DOID:4184 pseudohypoparathyroidism A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:4184 DOID:0051013
is_a DOID:4184 DOID:0080053
is_a DOID:4184 DOID:0080222
is_a DOID:4184 DOID:4183
is_a DOID:896 DOID:4184
is_a DOID:630 DOID:4184
is_a DOID:655 DOID:4184
is_a DOID:0014667 DOID:4184
is_a DOID:4 DOID:4184

1 Synonyms

Name Type
PHP synonym