Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cerebellar Ataxia (D002524)
Parent Node: Myoclonus (D009207)
Parent Node: Paraparesis, Spastic (D020336)
..Starting node ..Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia (C566188)
Child Nodes:
Sister Nodes:
..Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia (C564330)
..Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques (C564329)
..Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia (C566188)
..Gemignani syndrome (C537678)
..Multiple Exostoses with Spastic Tetraparesis (C563566)
..Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1462

Name:

Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia

Definition:

Alternative IDs:

ParentIDs:

MESH:D002524|MESH:D009207|MESH:D020336

TreeNumbers:

C10.228.140.252.190/C566188 |C10.597.350.090.500/C566188 |C10.597.350.500/C566188 |C10.597.636.500.500/C566188 |C23.888.592.350.090.200/C566188 |C23.888.592.350.500/C566188 |C23.888.592.643.500.500/C566188

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C566188
MeSH: C566188
OMIM: 113610;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0006827	Atrophy of the spinal cord
4	HP:0002120	Cerebral cortical atrophy
5	HP:0000639	Nystagmus
6	HP:0010530	Palatal myoclonus
7	HP:0002313	Spastic paraparesis
8	HP:0002078	Truncal ataxia

Disease Causing ClinVar Variants