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: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: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:0070202 | familial partial lipodystrophy type 2 | A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0070202 |
| is_a | DOID:0050440 | DOID:0070202 |
| is_a | DOID:630 | DOID:0070202 |
| is_a | DOID:65 | DOID:0070202 |
| is_a | DOID:0050177 | DOID:0070202 |
| is_a | DOID:4 | DOID:0070202 |
| is_a | DOID:0080299 | DOID:0070202 |
| is_a | DOID:17 | DOID:0070202 |
| is_a | DOID:811 | DOID:0070202 |
| is_a | DOID:0050739 | DOID:0070202 |
| is_a | DOID:7 | DOID:0070202 |
