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:936 | brain disease | A central nervous system disease that is located_in the brain. |
| DOID:331 | central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central 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:0060340 | ciliopathy | A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. |
| DOID:0080578 | digenic disease | A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. |
| DOID:0080577 | polygenic disease | A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. |
| DOID:0050777 | Joubert syndrome | A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. |
| DOID:0110984 | Joubert syndrome 15 | A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080578 | DOID:0110984 |
| is_a | DOID:0050777 | DOID:0110984 |
| is_a | DOID:7 | DOID:0110984 |
| is_a | DOID:4 | DOID:0110984 |
| is_a | DOID:225 | DOID:0110984 |
| is_a | DOID:863 | DOID:0110984 |
| is_a | DOID:630 | DOID:0110984 |
| is_a | DOID:0050177 | DOID:0110984 |
| is_a | DOID:331 | DOID:0110984 |
| is_a | DOID:0060340 | DOID:0110984 |
| is_a | DOID:936 | DOID:0110984 |
| is_a | DOID:0080577 | DOID:0110984 |
