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: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: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:0050539 | Charcot-Marie-Tooth disease type 2 | A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. |
| DOID:0111557 | Charcot-Marie-Tooth disease type 2A2B | A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050539 | DOID:0111557 |
| is_a | DOID:0050737 | DOID:0111557 |
| is_a | DOID:10595 | DOID:0111557 |
| is_a | DOID:7 | DOID:0111557 |
| is_a | DOID:440 | DOID:0111557 |
| is_a | DOID:17 | DOID:0111557 |
| is_a | DOID:870 | DOID:0111557 |
| is_a | DOID:4 | DOID:0111557 |
| is_a | DOID:574 | DOID:0111557 |
| is_a | DOID:630 | DOID:0111557 |
| is_a | DOID:863 | DOID:0111557 |
| is_a | DOID:0050739 | DOID:0111557 |
| is_a | DOID:0050177 | DOID:0111557 |
