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:11720 | distal myopathy | A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. |
| DOID:0111189 | distal myopathy 3 | A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. |
18 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0111189 |
| is_a | DOID:11720 | DOID:0111189 |
| is_a | DOID:0050177 | DOID:0111189 |
| is_a | DOID:7 | DOID:0111189 |
| is_a | DOID:0050692 | DOID:0111189 |
| is_a | DOID:0080000 | DOID:0111189 |
| is_a | DOID:66 | DOID:0111189 |
| is_a | DOID:9884 | DOID:0111189 |
| is_a | DOID:913 | DOID:0111189 |
| is_a | DOID:17 | DOID:0111189 |
| is_a | DOID:0050739 | DOID:0111189 |
| is_a | DOID:440 | DOID:0111189 |
| is_a | DOID:870 | DOID:0111189 |
| is_a | DOID:574 | DOID:0111189 |
| is_a | DOID:630 | DOID:0111189 |
| is_a | DOID:423 | DOID:0111189 |
| is_a | DOID:863 | DOID:0111189 |
| is_a | DOID:4 | DOID:0111189 |
