Link to this page
Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
Jump to:
| Preferred Name | Spinal Muscular Atrophy | |
| Synonyms |
|
|
| Definitions |
An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C85075 |
|
| code |
C85075
|
|
| Contributing_Source |
Cellosaurus GDC NICHD
|
|
| definition |
An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.
|
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C165258 |
|
| Is_Value_For_GDC_Property | ||
| label |
Spinal Muscular Atrophy
|
|
| Maps_To |
Spinal Muscular Atrophy
|
|
| Preferred_Name |
Spinal Muscular Atrophy
|
|
| prefixIRI |
NCIT:C85075
|
|
| prefLabel |
Spinal Muscular Atrophy
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0026847
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping