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: Hernia, Diaphragmatic (D006548)
..Starting node ..Diaphragmatic Hernia 2 (C565629)
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:

3333

Name:

Diaphragmatic Hernia 2

Definition:

Alternative IDs:

OMIM:222400

ParentIDs:

MESH:D006548

TreeNumbers:

C23.300.707.500/C565629

Synonyms:

DIH2

Slim Mappings:

Pathology (anatomical condition)

Reference:

MedGen: C565629
MeSH: C565629
OMIM: 222400;

Genes:

Phenotypes

1	HP:0008986	Agenesis of the diaphragm
2	HP:0000776	Congenital diaphragmatic hernia

Disease Causing ClinVar Variants