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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Hearing Loss, Central (D006313)
..Starting node ..Deafness, autosomal recessive 55 (C538203)
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:

3075

Name:

Deafness, autosomal recessive 55

Definition:

Alternative IDs:

OMIM:609952

ParentIDs:

MESH:D006313

TreeNumbers:

C09.218.458.341.887.432/C538203 |C09.218.807.186.432/C538203 |C10.228.140.068.432/C538203 |C10.597.751.418.341.887.432/C538203 |C23.888.592.763.393.341.887.432/C538203

Synonyms:

DFNB55

Slim Mappings:

Ear-nose-throat disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C538203
MeSH: C538203
OMIM: 609952;

Genes: DFNB55;

Phenotypes

HP:0000007

Autosomal recessive inheritance

Disease Causing ClinVar Variants