WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110310 hypertrophic cardiomyopathy 4 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.

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:1287 cardiovascular system disease A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
DOID:114 heart disease A cardiovascular system disease that involves the heart.
DOID:0060118 thoracic disease A disease of anatomical entity that is located_in the thoracic cavity.
DOID:0060036 intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
DOID:0050700 cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
DOID:11984 hypertrophic cardiomyopathy An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
DOID:0080326 familial hypertrophic cardiomyopathy A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
DOID:0110310 hypertrophic cardiomyopathy 4 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080326 DOID:0110310
is_a DOID:0060118 DOID:0110310
is_a DOID:1287 DOID:0110310
is_a DOID:7 DOID:0110310
is_a DOID:114 DOID:0110310
is_a DOID:0060036 DOID:0110310
is_a DOID:4 DOID:0110310
is_a DOID:0050700 DOID:0110310
is_a DOID:11984 DOID:0110310

2 Synonyms

Name Type
cardiomyopathy, familial hypertrophic, 4 synonym
CMH4 synonym