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: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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| 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:0050542 | Charcot-Marie-Tooth disease type X | A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. |
| DOID:0110210 | Charcot-Marie-Tooth disease X-linked recessive 5 | A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050542 | DOID:0110210 |
| is_a | DOID:0080012 | DOID:0110210 |
| is_a | DOID:0050177 | DOID:0110210 |
| is_a | DOID:7 | DOID:0110210 |
| is_a | DOID:4 | DOID:0110210 |
| is_a | DOID:863 | DOID:0110210 |
| is_a | DOID:10595 | DOID:0110210 |
| is_a | DOID:630 | DOID:0110210 |
| is_a | DOID:0050735 | DOID:0110210 |
| is_a | DOID:17 | DOID:0110210 |
| is_a | DOID:574 | DOID:0110210 |
| is_a | DOID:870 | DOID:0110210 |
| is_a | DOID:440 | DOID:0110210 |
