12 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:0080001 | bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| DOID:65 | connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| DOID:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| 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:0050788 | proximal symphalangism | A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. |
| DOID:0080788 | proximal symphalangism 2 | A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050788 | DOID:0080788 |
| is_a | DOID:0050739 | DOID:0080788 |
| is_a | DOID:0080001 | DOID:0080788 |
| is_a | DOID:0050177 | DOID:0080788 |
| is_a | DOID:65 | DOID:0080788 |
| is_a | DOID:4 | DOID:0080788 |
| is_a | DOID:225 | DOID:0080788 |
| is_a | DOID:17 | DOID:0080788 |
| is_a | DOID:7 | DOID:0080788 |
| is_a | DOID:0050736 | DOID:0080788 |
| is_a | DOID:630 | DOID:0080788 |
