Disease browser and phenotype portal

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MSeqDR-LSDB
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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 ..Auditory Neuropathy, Autosomal Dominant, 1 (C563790)
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:

1060

Name:

Auditory Neuropathy, Autosomal Dominant, 1

Definition:

Alternative IDs:

OMIM:609129

ParentIDs:

MESH:D006313

TreeNumbers:

C09.218.458.341.887.432/C563790 |C09.218.807.186.432/C563790 |C10.228.140.068.432/C563790 |C10.597.751.418.341.887.432/C563790 |C23.888.592.763.393.341.887.432/C563790

Synonyms:

Auditory Neuropathy, Nonsyndromic Dominant |AUNA1 |NSDAN

Slim Mappings:

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

Reference:

MedGen: C563790
MeSH: C563790
OMIM: 609129;

Genes: DIAPH3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0006958	Abnormal auditory evoked potentials
3	HP:0001963	Abnormal speech discrimination
4	HP:0008529	Absence of acoustic reflex
5	HP:0000407	Sensorineural hearing impairment

Disease Causing ClinVar Variants