8 Parents
| Identifier | Name | Description |
|---|---|---|
| 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: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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:2581 | chondrodysplasia punctata | A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. |
| DOID:0060292 | X-linked chondrodysplasia punctata 1 | A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. |
7 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2581 | DOID:0060292 |
| is_a | DOID:0080012 | DOID:0060292 |
| is_a | DOID:0050177 | DOID:0060292 |
| is_a | DOID:630 | DOID:0060292 |
| is_a | DOID:225 | DOID:0060292 |
| is_a | DOID:0050735 | DOID:0060292 |
| is_a | DOID:4 | DOID:0060292 |
