20 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: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: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: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:0110274 | autosomal recessive limb-girdle muscular dystrophy | A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. |
| DOID:11724 | limb-girdle muscular dystrophy | A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. |
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. |
19 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0110274 | DOID:0110294 |
| is_a | DOID:0050177 | DOID:0110294 |
| is_a | DOID:0050692 | DOID:0110294 |
| is_a | DOID:913 | DOID:0110294 |
| is_a | DOID:17 | DOID:0110294 |
| is_a | DOID:9884 | DOID:0110294 |
| is_a | DOID:574 | DOID:0110294 |
| is_a | DOID:870 | DOID:0110294 |
| is_a | DOID:440 | DOID:0110294 |
| is_a | DOID:66 | DOID:0110294 |
| is_a | DOID:0080000 | DOID:0110294 |
| is_a | DOID:7 | DOID:0110294 |
| is_a | DOID:0050739 | DOID:0110294 |
| is_a | DOID:4 | DOID:0110294 |
| is_a | DOID:423 | DOID:0110294 |
| is_a | DOID:863 | DOID:0110294 |
| is_a | DOID:0050737 | DOID:0110294 |
| is_a | DOID:11724 | DOID:0110294 |
| is_a | DOID:630 | DOID:0110294 |
