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: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:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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:0050950 | autosomal recessive cerebellar ataxia | A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. |
| DOID:0070410 | autosomal recessive spinocerebellar ataxia 29 | An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050950 | DOID:0070410 |
| is_a | DOID:863 | DOID:0070410 |
| is_a | DOID:630 | DOID:0070410 |
| is_a | DOID:4 | DOID:0070410 |
| is_a | DOID:331 | DOID:0070410 |
| is_a | DOID:0050737 | DOID:0070410 |
| is_a | DOID:936 | DOID:0070410 |
| is_a | DOID:7 | DOID:0070410 |
| is_a | DOID:0050739 | DOID:0070410 |
| is_a | DOID:0050177 | DOID:0070410 |
| is_a | DOID:0050753 | DOID:0070410 |
| is_a | DOID:0050951 | DOID:0070410 |
| is_a | DOID:2786 | DOID:0070410 |
| is_a | DOID:1289 | DOID:0070410 |
