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: Abnormalities, Multiple (D000015)
Parent Node: Anus, Imperforate (D001006)
Parent Node: Hearing Loss, Central (D006313)
Parent Node: Nephritis, Hereditary (D009394)
..Starting node ..Deafness nephritis ano rectal malformation (C535996)
Child Nodes:
Sister Nodes:
..Alport syndrome, dominant type (C536586)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alport syndrome, recessive type (C536587)
..ALPORT SYNDROME, X-LINKED (OMIM:301050)
..Alport Syndrome-Like Hereditary Nephritis (C562890)
..Daentl Towsend Siegel syndrome (C535768)
..Deafness nephritis ano rectal malformation (C535996)
..Leiomyomatosis, esophageal and vulval, with nephropathy (C537113)
..Nephropathy, Progressive, with Deafness (C563713)
..Renal Failure, Progressive, with Hypertension (C562889)
..Salcedo syndrome (C537228)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3115
Name:	Deafness nephritis ano rectal malformation
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D001006\|MESH:D006313\|MESH:D009394
TreeNumbers:	C06.198.050/C535996 \|C09.218.458.341.887.432/C535996 \|C09.218.807.186.432/C535996 \|C10.228.140.068.432/C535996 \|C10.597.751.418.341.887.432/C535996 \|C12.706.742/C535996 \|C12.777.419.570.620/C535996 \|C13.351.875.742/C535996 \|C13.351.968.419.570.620/C535996 \|C16.13
Synonyms:	Dominant ano-rectal malformation, nephritis and nerve-deafness
Slim Mappings:	Congenital abnormality\|Connective tissue disease\|Digestive system disease\|Ear-nose-throat disease\|Nervous system disease\|Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C535996 MeSH: C535996 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants