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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

Disease Browser
Parent Node: Cerebellar Ataxia (D002524)
Parent Node: Deafness (D003638)
Parent Node: Diabetes Mellitus (D003920)
Parent Node: Diabetic Neuropathies (D003929)
Parent Node: Kidney Diseases (D007674)
Parent Node: Myoclonus (D009207)
..Starting node ..Herrmann syndrome (C538113)
Child Nodes:
Sister Nodes:
..Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia (C566188)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Herrmann syndrome (C538113)
..Jankovic Rivera syndrome (C537563)
..Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
..Nystagmus, Myoclonic (C564088)
..Opsoclonus-Myoclonus Syndrome (D053578) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5152
Name:	Herrmann syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002524\|MESH:D003638\|MESH:D003920\|MESH:D003929\|MESH:D007674\|MESH:D009207
TreeNumbers:	C09.218.458.341.186/C538113 \|C10.228.140.252.190/C538113 \|C10.597.350.090.500/C538113 \|C10.597.350.500/C538113 \|C10.597.751.418.341.186/C538113 \|C10.668.829.300/C538113 \|C12.777.419/C538113 \|C13.351.968.419/C538113 \|C18.452.394.750/C538113 \|C19.246.099.937/C53811
Synonyms:	Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Slim Mappings:	Ear-nose-throat disease\|Endocrine system disease\|Metabolic disease\|Nervous system disease\|Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C538113 MeSH: C538113 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants