| Disease Browser
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Parent Node:
 Hearing Loss, Sensorineural (D006319) | Parent Node:
Paraparesis, Spastic (D020336) | Parent Node:
Spinocerebellar Ataxias (D020754) | ..Starting node
.. Gemignani syndrome (C537678)
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Child Nodes:
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Sister Nodes: | ..Anemia, sideroblastic spinocerebellar ataxia (C536358)
| ..Ataxia Telangiectasia (D001260)  6
| ..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
| ..Gemignani syndrome (C537678)
| ..Machado-Joseph Disease (D017827) 1
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
| ..Spastic Ataxia (C564815)
| ..Spastic ataxia Charlevoix-Saguenay type (C536787)
| ..Spinocerebellar Ataxia 10 (C566874)
| ..Spinocerebellar Ataxia 11 (C565772)
| ..Spinocerebellar Ataxia 12 (C565790)
| ..Spinocerebellar Ataxia 15 (C564685)
| ..Spinocerebellar Ataxia 17 (C564616)
| ..Spinocerebellar ataxia 20 (C537199)
| ..Spinocerebellar ataxia 25 (C537202)
| ..Spinocerebellar ataxia 26 (C537203)
| ..Spinocerebellar ataxia 30 (C575214)
| ..Spinocerebellar Ataxia 31 (C566146)
| ..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
| ..Spinocerebellar Ataxia with Dysmorphism (C564802)
| ..Spinocerebellar Ataxia with Epilepsy (C564395)
| ..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
| ..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
| ..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
| ..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
| ..Spinocerebellar Ataxia, X-Linked 1 (C563134)
| ..Spinocerebellar Ataxia, X-Linked 5 (C567478)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 4543 |
| Name: | Gemignani syndrome |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D006319|MESH:D020336|MESH:D020754 |
| TreeNumbers: | C09.218.458.341.887/C537678 |C10.228.140.252.190.530/C537678 |C10.228.140.252.700.700/C537678 |C10.228.854.787.875/C537678 |C10.574.500.825.700/C537678 |C10.597.350.090.500.530/C537678 |C10.597.636.500.500/C537678 |C10.597.751.418.341.887/C537678 |C16.320.400.78 |
| Synonyms: | Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis |
| Slim Mappings: | Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C537678
MeSH: C537678
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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