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:65 | connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| 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:0080299 | partial lipodystrophy | A lipodystrophy that is characterized by partial loss of adipose tissue. |
| DOID:0050440 | familial partial lipodystrophy | A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. |
| DOID:811 | lipodystrophy | A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. |
| DOID:0070203 | familial partial lipodystrophy type 5 | A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050440 | DOID:0070203 |
| is_a | DOID:0050737 | DOID:0070203 |
| is_a | DOID:630 | DOID:0070203 |
| is_a | DOID:65 | DOID:0070203 |
| is_a | DOID:0050177 | DOID:0070203 |
| is_a | DOID:17 | DOID:0070203 |
| is_a | DOID:0080299 | DOID:0070203 |
| is_a | DOID:811 | DOID:0070203 |
| is_a | DOID:0050739 | DOID:0070203 |
| is_a | DOID:4 | DOID:0070203 |
| is_a | DOID:7 | DOID:0070203 |
