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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Dandy-Walker Syndrome (D003616)
Parent Node: Pancreatic Cyst (D010181)
..Starting node ..Renal hepatic pancreatic dysplasia Dandy Walker cyst (C537756)
Child Nodes:
Sister Nodes:
..Pancreatic Pseudocyst (D010192)
..Renal hepatic pancreatic dysplasia Dandy Walker cyst (C537756)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9655

Name:

Renal hepatic pancreatic dysplasia Dandy Walker cyst

Definition:

Alternative IDs:

OMIM:267010

ParentIDs:

MESH:D000015|MESH:D003616|MESH:D010181

TreeNumbers:

C04.182.640/C537756 |C06.689.500/C537756 |C10.228.140.252.300/C537756 |C10.228.140.602.288/C537756 |C10.228.140.631.450.500/C537756 |C10.500.205/C537756 |C16.131.077/C537756 |C16.131.666.205/C537756

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Digestive system disease|Nervous system disease

Reference:

MedGen: C537756
MeSH: C537756
OMIM: 267010;

Genes: NPHP3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001650	Aortic valve stenosis	HP:0040284
3	HP:0001631	Atrial septal defect	HP:0040284
4	HP:0001408	Bile duct proliferation
5	HP:0002613	Biliary cirrhosis	HP:0040284
6	HP:0001396	Cholestasis	HP:0040284
7	HP:0002190	Choroid plexus cyst	HP:0040284
8	HP:0001305	Dandy-Walker malformation	HP:0040284
9	HP:0001433	Hepatosplenomegaly	HP:0040284
10	HP:0000348	High forehead	HP:0040284
11	HP:0001276	Hypertonia	HP:0040284
12	HP:0000023	Inguinal hernia	HP:0040284
13	HP:0000239	Large fontanelles	HP:0040284
14	HP:0000003	Multicystic kidney dysplasia	HP:0040284
15	HP:0100611	Multiple glomerular cysts	HP:0040284
16	HP:0001562	Oligohydramnios	HP:0040284
17	HP:0001737	Pancreatic cysts	HP:0040284
18	HP:0001643	Patent ductus arteriosus	HP:0040284
19	HP:0001409	Portal hypertension	HP:0040284
20	HP:0001830	Postaxial foot polydactyly	HP:0040284
21	HP:0001667	Right ventricular hypertrophy	HP:0040284
22	HP:0001696	Situs inversus totalis	HP:0040284
23	HP:0003774	Stage 5 chronic kidney disease	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_153240.4(NPHP3):c.1729C>T (p.Arg577Ter)	-1	-	Pathogenic	119456962	RCV000174180; RCV000002755; RCV000174179; RCV000082662;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540; MedGen:C2673885,OMIM:267010,ORPHA:3032; MedGen:CN221809	3	132419192	132419192	NM_153240.4:c.1729C>T	NP_694972.3:p.Arg577Ter	NC_000003.11:g.132419192G>A	HGMD:CM081369,OMIM Allelic Variant:608002.0005	C1858392 604387 Adolescent nephronophthisis; C2673885 267010 Meckel syndrome type 7; CN221809 not provided; C2673883 208540 Renal-hepatic-pancreatic dysplasia