15 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: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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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:1289 | neurodegenerative disease | A central nervous system disease that results in the progressive deterioration of function or structure of neurons. |
| DOID:2786 | cerebellar disease | A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. |
| DOID:0050753 | cerebellar ataxia | A hereditary ataxia that is characterized by ataxia originating in the cerebellum. |
| DOID:0050951 | hereditary ataxia | A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. |
| DOID:1441 | autosomal dominant cerebellar ataxia | A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. |
| DOID:0050976 | spinocerebellar ataxia type 27 | An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:1441 | DOID:0050976 |
| is_a | DOID:863 | DOID:0050976 |
| is_a | DOID:4 | DOID:0050976 |
| is_a | DOID:630 | DOID:0050976 |
| is_a | DOID:7 | DOID:0050976 |
| is_a | DOID:2786 | DOID:0050976 |
| is_a | DOID:0050739 | DOID:0050976 |
| is_a | DOID:0050736 | DOID:0050976 |
| is_a | DOID:331 | DOID:0050976 |
| is_a | DOID:0050753 | DOID:0050976 |
| is_a | DOID:0050951 | DOID:0050976 |
| is_a | DOID:0050177 | DOID:0050976 |
| is_a | DOID:1289 | DOID:0050976 |
| is_a | DOID:936 | DOID:0050976 |
