11 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: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: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:66 | muscle tissue disease | A muscular disease located in the muscle tissue. |
| DOID:0080000 | muscular disease | A musculoskeletal system disease that affects the muscles. |
| DOID:0050646 | distal arthrogryposis | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| DOID:0111594 | distal arthrogryposis type 5D | A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0111594 |
| is_a | DOID:0050646 | DOID:0111594 |
| is_a | DOID:630 | DOID:0111594 |
| is_a | DOID:66 | DOID:0111594 |
| is_a | DOID:0050739 | DOID:0111594 |
| is_a | DOID:0050177 | DOID:0111594 |
| is_a | DOID:0080000 | DOID:0111594 |
| is_a | DOID:7 | DOID:0111594 |
| is_a | DOID:17 | DOID:0111594 |
| is_a | DOID:4 | DOID:0111594 |
