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: Nephritis, Hereditary (D009394)
..Starting node ..Renal Failure, Progressive, with Hypertension (C562889)
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:

9652

Name:

Renal Failure, Progressive, with Hypertension

Definition:

Alternative IDs:

OMIM:161900

ParentIDs:

MESH:D009394

TreeNumbers:

C12.706.742/C562889 |C12.777.419.570.620/C562889 |C13.351.875.742/C562889 |C13.351.968.419.570.620/C562889 |C16.131.939.742/C562889 |C17.300.200.517/C562889

Synonyms:

AORF |Nephritis, Familial, without Deafness or Ocular Defect |Nephropathy, Familial |Renal Failure, Adult-Onset |RFH1

Slim Mappings:

Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C562889
MeSH: C562889
OMIM: 161900;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0003259	Elevated circulating creatinine concentration
4	HP:0000822	Hypertension
5	HP:0002907	Microscopic hematuria
6	HP:0000123	Nephritis
7	HP:0003676	Progressive
8	HP:0000093	Proteinuria
9	HP:0000083	Renal insufficiency
10	HP:0003774	Stage 5 chronic kidney disease

Disease Causing ClinVar Variants