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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: Congenital Microtia (D065817)
Parent Node: Hearing Disorders (D006311)
..Starting node ..Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia (C580009)
Child Nodes:
Sister Nodes:
..Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia (C580009)
..Hearing Loss (D034381) 397
..Hyperacusis (D012001)
..Ossicular Malformations, familial (C537142)
..Tinnitus (D014012) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2607
Name:	Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
Definition:
Alternative IDs:
ParentIDs:	MESH:D006311\|MESH:D065817
TreeNumbers:	C09.218.235/C580009 \|C09.218.458/C580009 \|C10.597.751.418/C580009 \|C16.131.287/C580009 \|C23.888.592.763.393/C580009
Synonyms:	Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia \|Deafness with Lamm \|Lamm Syndrome
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C580009 MeSH: C580009 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants