13 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:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:2490 | congenital nervous system abnormality | |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:4621 | holoprosencephaly | A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| DOID:0060954 | Holoprosencephaly 13, X-linked | A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:4621 | DOID:0060954 |
| is_a | DOID:0080009 | DOID:0060954 |
| is_a | DOID:0080012 | DOID:0060954 |
| is_a | DOID:630 | DOID:0060954 |
| is_a | DOID:0050177 | DOID:0060954 |
| is_a | DOID:225 | DOID:0060954 |
| is_a | DOID:2490 | DOID:0060954 |
| is_a | DOID:863 | DOID:0060954 |
| is_a | DOID:0080015 | DOID:0060954 |
| is_a | DOID:0050735 | DOID:0060954 |
| is_a | DOID:7 | DOID:0060954 |
| is_a | DOID:4 | DOID:0060954 |
