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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: Hernia, Diaphragmatic (D006548)
..Starting node ..Diaphragmatic Hernia 3 (C565710)
Child Nodes:
Sister Nodes:
..Diaphragm, Complete Agenesis Of (C564189)
..Diaphragmatic Hernia 1 (C564188)
..Diaphragmatic Hernia 2 (C565629)
..Diaphragmatic Hernia 3 (C565710)
..Fryns syndrome (C538070)
..Hernia, Diaphragmatic, Traumatic (D006549)
..Hernia, Hiatal (D006551) 3
..Hernias, Diaphragmatic, Congenital (D065630) 7
..Jarcho-Levin syndrome (C537565) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3334

Name:

Diaphragmatic Hernia 3

Definition:

Alternative IDs:

OMIM:610187

ParentIDs:

MESH:D006548

TreeNumbers:

C23.300.707.500/C565710

Synonyms:

DIH3

Slim Mappings:

Pathology (anatomical condition)

Reference:

MedGen: C565710
MeSH: C565710
OMIM: 610187;

Genes: ZFPM2;

Phenotypes

HP:0000776

Congenital diaphragmatic hernia

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
NM_012082.3(ZFPM2):c.2107A>C (p.Met703Leu)	-1	-	Pathogenic	121908603	RCV000032715; RCV000006504;	N	MedGen:C0013069,ORPHA:3426,SNOMED CT:7484005; MedGen:C1857781,OMIM:610187	8	106814417	106814417	NM_012082.3:c.2107A>C	NP_036214.2:p.Met703Leu	NC_000008.10:g.106814417A>C	OMIM Allelic Variant:603693.0004	C1857781 610187 Diaphragmatic hernia 3; C0013069 Double outlet right ventricle
NM_012082.3(ZFPM2):c.2527A>G (p.Thr843Ala)	-1	-	Pathogenic	121908604	RCV000006505;	N	MedGen:C1857781,OMIM:610187	8	106814837	106814837	NM_012082.3:c.2527A>G	NP_036214.2:p.Thr843Ala	NC_000008.10:g.106814837A>G	OMIM Allelic Variant:603693.0005	C1857781 610187 Diaphragmatic hernia 3
NM_012082.3(ZFPM2):c.89A>G (p.Glu30Gly)	23414	ZFPM2	Pathogenic	121908601	RCV000032713; RCV000006502; RCV000172841;	N	MedGen:C0013069,ORPHA:3426,SNOMED CT:7484005; MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C1857781,OMIM:610187	8	106431420	106431420	NM_012082.3:c.89A>G	NP_036214.2:p.Glu30Gly	NC_000008.10:g.106431420A>G	OMIM Allelic Variant:603693.0002	C1857781 610187 Diaphragmatic hernia 3; C0013069 Double outlet right ventricle; C0039685 187500 Tetralogy of Fallot
NM_012082.3(ZFPM2):c.334C>T (p.Arg112Ter)	23414	ZFPM2	Pathogenic	121908602	RCV000006503;	N	MedGen:C1857781,OMIM:610187	8	106573623	106573623	NM_012082.3:c.334C>T	NP_036214.2:p.Arg112Ter	NC_000008.10:g.106573623C>T	OMIM Allelic Variant:603693.0003	C1857781 610187 Diaphragmatic hernia 3