Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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, autosomal dominant nonsyndromic sensorineural 3 (C538200)
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:	3027
Name:	Deafness, autosomal dominant nonsyndromic sensorineural 3
Definition:
Alternative IDs:
ParentIDs:	MESH:D006313
TreeNumbers:	C09.218.458.341.887.432/C538200 \|C09.218.807.186.432/C538200 \|C10.228.140.068.432/C538200 \|C10.597.751.418.341.887.432/C538200 \|C23.888.592.763.393.341.887.432/C538200
Synonyms:	Neurosensory nonsyndromic dominant deafness 1
Slim Mappings:	Ear-nose-throat disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C538200 MeSH: C538200 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants