15 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: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:0050541 | Charcot-Marie-Tooth disease type 4 | A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. |
| DOID:0110195 | Charcot-Marie-Tooth disease type 4E | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0110195 |
| is_a | DOID:0050737 | DOID:0110195 |
| is_a | DOID:0050541 | DOID:0110195 |
| is_a | DOID:0050177 | DOID:0110195 |
| is_a | DOID:574 | DOID:0110195 |
| is_a | DOID:870 | DOID:0110195 |
| is_a | DOID:440 | DOID:0110195 |
| is_a | DOID:10595 | DOID:0110195 |
| is_a | DOID:17 | DOID:0110195 |
| is_a | DOID:7 | DOID:0110195 |
| is_a | DOID:0050739 | DOID:0110195 |
| is_a | DOID:4 | DOID:0110195 |
| is_a | DOID:863 | DOID:0110195 |
| is_a | DOID:630 | DOID:0110195 |
