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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: Hearing Loss, Central (D006313)
..Starting node ..Deafness, neurosensory, autosomal recessive 47 (C538205)
Child Nodes:
Sister Nodes:
..Auditory neuropathy (C538268)
..Auditory Neuropathy, Autosomal Dominant, 1 (C563790)
..Deafness nephritis ano rectal malformation (C535996)
..Deafness, autosomal dominant nonsyndromic sensorineural 3 (C538200)
..Deafness, autosomal dominant nonsyndromic sensorineural 53 (C538201)
..Deafness, autosomal recessive 51 (C538202)
..Deafness, autosomal recessive 55 (C538203)
..Deafness, Neural, Congenital Moderate (C565640)
..Deafness, neurosensory, autosomal recessive 47 (C538205)
..Groll Hirschowitz syndrome (C537305)
..Jensen syndrome (C537568)
..Mitochondrial myopathy with lactic acidosis (C537476)
..Optic atrophy polyneuropathy deafness (C537129)
..Ruzicka Goerz Anton syndrome (C537192)
..Santos Mateus Leal syndrome (C537235)
..Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness (C564769)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3118
Name:	Deafness, neurosensory, autosomal recessive 47
Definition:
Alternative IDs:
ParentIDs:	MESH:D006313
TreeNumbers:	C09.218.458.341.887.432/C538205 \|C09.218.807.186.432/C538205 \|C10.228.140.068.432/C538205 \|C10.597.751.418.341.887.432/C538205 \|C23.888.592.763.393.341.887.432/C538205
Synonyms:
Slim Mappings:	Ear-nose-throat disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C538205 MeSH: C538205 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants