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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:811 | lipodystrophy | A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. |
| DOID:0050585 | congenital generalized lipodystrophy | A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. |
| DOID:0080298 | complete generalized lipodystrophy | A lipodystrophy that is characterized by complete loss of adipose tissue. |
15 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0050585 |
| is_a | DOID:0080298 | DOID:0050585 |
| is_a | DOID:0080015 | DOID:0050585 |
| is_a | DOID:17 | DOID:0050585 |
| is_a | DOID:65 | DOID:0050585 |
| is_a | DOID:630 | DOID:0050585 |
| is_a | DOID:0050177 | DOID:0050585 |
| is_a | DOID:4 | DOID:0050585 |
| is_a | DOID:811 | DOID:0050585 |
| is_a | DOID:0050739 | DOID:0050585 |
| is_a | DOID:7 | DOID:0050585 |
| is_a | DOID:0050585 | DOID:0111135 |
| is_a | DOID:0050585 | DOID:0111136 |
| is_a | DOID:0050585 | DOID:0111137 |
| is_a | DOID:0050585 | DOID:0111138 |
