WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
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1 Ontology

Name
Disease Ontology

19 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:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system.
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
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:870 neuropathy A nervous system disease that is located_in nerves or nerve cells.
DOID:440 neuromuscular disease A neuropathy that affect the nerves that control the voluntary muscles.
DOID:9884 muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration.
DOID:423 myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
DOID:66 muscle tissue disease A muscular disease located in the muscle tissue.
DOID:913 atrophic muscular disease A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.
DOID:0080000 muscular disease A musculoskeletal system disease that affects the muscles.
DOID:0050692 Brody myopathy A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.
DOID:11726 Emery-Dreifuss muscular dystrophy A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.

18 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0050736 DOID:0070247
is_a DOID:11726 DOID:0070247
is_a DOID:630 DOID:0070247
is_a DOID:574 DOID:0070247
is_a DOID:870 DOID:0070247
is_a DOID:440 DOID:0070247
is_a DOID:66 DOID:0070247
is_a DOID:913 DOID:0070247
is_a DOID:0080000 DOID:0070247
is_a DOID:0050739 DOID:0070247
is_a DOID:4 DOID:0070247
is_a DOID:423 DOID:0070247
is_a DOID:7 DOID:0070247
is_a DOID:863 DOID:0070247
is_a DOID:0050177 DOID:0070247
is_a DOID:9884 DOID:0070247
is_a DOID:0050692 DOID:0070247
is_a DOID:17 DOID:0070247

8 Synonyms

Name Type
EMD2 synonym
Emery-Dreifuss muscular dystrophy 2, autosomal dominant synonym
Emery-Dreifuss muscular dystrophy, autosomal dominant synonym
Hauptmann-Thannhauser muscular dystrophy synonym
muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant synonym
scapuloilioperoneal atrophy with cardiopathy synonym
autosomal dominant limb-girdle muscular dystrophy type 1B synonym
EDMD2 synonym