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: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:2490 | congenital nervous system abnormality | |
| DOID:0060388 | chromosomal deletion syndrome | A chromosomal disease that has_material_basis_in partial deletion of chromosomes. |
| DOID:0080014 | chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| DOID:0060412 | chromosome 1q41-q42 deletion syndrome | A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. |
| 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. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060388 | DOID:0060412 |
| is_a | DOID:0050739 | DOID:0060412 |
| is_a | DOID:4621 | DOID:0060412 |
| is_a | DOID:4 | DOID:0060412 |
| is_a | DOID:225 | DOID:0060412 |
| is_a | DOID:2490 | DOID:0060412 |
| is_a | DOID:863 | DOID:0060412 |
| is_a | DOID:0050177 | DOID:0060412 |
| is_a | DOID:0080015 | DOID:0060412 |
| is_a | DOID:0080014 | DOID:0060412 |
| is_a | DOID:7 | DOID:0060412 |
| is_a | DOID:630 | DOID:0060412 |
