| Disease Browser
|
Parent Node:
 Ataxia (D001259) | Parent Node:
Demyelinating Diseases (D003711) | Parent Node:
Muscle Hypotonia (D009123) | Parent Node:
Nystagmus, Congenital (D020417) | ..Starting node
.. Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
|
Child Nodes:
|
Sister Nodes: | ..Amyotrophic Dystonic Paraplegia (C566292)
| ..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
| ..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
| ..Foveal Hypoplasia, Isolated (C565005)
| ..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
| ..Mental retardation Mietens Weber type (C537444)
| ..Microphthalmia, Isolated, with Cataract 2 (C565876)
| ..Nystagmus 1, congenital, X- linked (C537853)
| ..Nystagmus 2, congenital, autosomal dominant (C537854)
| ..Nystagmus 3, congenital, autosomal dominant (C537855)
| ..Nystagmus 4, congenital, autosomal dominant (C537856)
| ..NYSTAGMUS 5, CONGENITAL, X-LINKED (OMIM:300589)
| ..Nystagmus 5, Infantile Periodic Alternating (C564478)
| ..NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
| ..Nystagmus, Congenital Motor, Autosomal Recessive (C564938)
| ..O'Donnell Pappas syndrome (C537858)
| ..X-Linked Infantile Nystagmus (C580539)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 5642 |
| Name: | Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D001259|MESH:D003711|MESH:D009123|MESH:D020417 |
| TreeNumbers: | C10.292.562.675.300/C537159 |C10.314/C537159 |C10.597.350.090/C537159 |C10.597.613.575/C537159 |C11.590.400.300/C537159 |C16.614.643/C537159 |C23.888.592.350.090/C537159 |C23.888.592.608.575/C537159 |
| Synonyms: | Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses |
| Slim Mappings: | Eye disease|Infant-newborn disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C537159
MeSH: C537159
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
|
