14 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:10595 | Charcot-Marie-Tooth disease | A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. |
| DOID:0050543 | Charcot-Marie-Tooth disease intermediate type | A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. |
| DOID:0110205 | Charcot-Marie-Tooth disease dominant intermediate E | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0110205 |
| is_a | DOID:0050543 | DOID:0110205 |
| is_a | DOID:10595 | DOID:0110205 |
| is_a | DOID:7 | DOID:0110205 |
| is_a | DOID:863 | DOID:0110205 |
| is_a | DOID:630 | DOID:0110205 |
| is_a | DOID:17 | DOID:0110205 |
| is_a | DOID:4 | DOID:0110205 |
| is_a | DOID:574 | DOID:0110205 |
| is_a | DOID:870 | DOID:0110205 |
| is_a | DOID:440 | DOID:0110205 |
| is_a | DOID:0050739 | DOID:0110205 |
| is_a | DOID:0050177 | DOID:0110205 |
