9 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:0080009 | X-linked dominant disease | A X-linked monogenic disease that has_material_basis_in dominant inheritance. |
| DOID:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:2581 | chondrodysplasia punctata | A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. |
| DOID:0080352 | X-linked chondrodysplasia punctata 2 | A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. |
| DOID:0112106 | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080352 | DOID:0112106 |
| is_a | DOID:2581 | DOID:0112106 |
| is_a | DOID:0050735 | DOID:0112106 |
| is_a | DOID:4 | DOID:0112106 |
| is_a | DOID:0080009 | DOID:0112106 |
| is_a | DOID:630 | DOID:0112106 |
| is_a | DOID:225 | DOID:0112106 |
| is_a | DOID:0050177 | DOID:0112106 |
