MCID: DPH025
MIFTS: 14

Diaphragmatic Hernia 2

Categories: Rare diseases, Gastrointestinal diseases, Respiratory diseases, Fetal diseases, Muscle diseases, Genetic diseases

Aliases & Classifications for Diaphragmatic Hernia 2

MalaCards integrated aliases for Diaphragmatic Hernia 2:

Name: Diaphragmatic Hernia 2 57 29
Hernia, Congenital Diaphragmatic 2 57 13
Dih2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive vs. multifactorial


Classifications:



External Ids:

OMIM 57 222400
MedGen 42 C1857284
SNOMED-CT via HPO 69 17190001 702613006 72424001

Summaries for Diaphragmatic Hernia 2

MalaCards based summary : Diaphragmatic Hernia 2, also known as hernia, congenital diaphragmatic 2, is related to diaphragmatic hernia, congenital. An important gene associated with Diaphragmatic Hernia 2 is DIH2 (Hernia, Congenital Diaphragmatic 2). Related phenotypes are congenital diaphragmatic hernia and agenesis of the diaphragm

Description from OMIM: 222400

Related Diseases for Diaphragmatic Hernia 2

Diseases in the Hernia, Anterior Diaphragmatic family:

Diaphragmatic Hernia, Congenital Diaphragmatic Hernia 2
Diaphragmatic Hernia 3

Diseases related to Diaphragmatic Hernia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 10.9

Symptoms & Phenotypes for Diaphragmatic Hernia 2

Symptoms via clinical synopsis from OMIM:

57
Muscle:
agenesis of the diaphragm


Clinical features from OMIM:

222400

Human phenotypes related to Diaphragmatic Hernia 2:

32
# Description HPO Frequency HPO Source Accession
1 congenital diaphragmatic hernia 32 HP:0000776
2 agenesis of the diaphragm 32 HP:0008986

Drugs & Therapeutics for Diaphragmatic Hernia 2

Search Clinical Trials , NIH Clinical Center for Diaphragmatic Hernia 2

Genetic Tests for Diaphragmatic Hernia 2

Genetic tests related to Diaphragmatic Hernia 2:

# Genetic test Affiliating Genes
1 Diaphragmatic Hernia 2 29

Anatomical Context for Diaphragmatic Hernia 2

Publications for Diaphragmatic Hernia 2

Variations for Diaphragmatic Hernia 2

Expression for Diaphragmatic Hernia 2

Search GEO for disease gene expression data for Diaphragmatic Hernia 2.

Pathways for Diaphragmatic Hernia 2

GO Terms for Diaphragmatic Hernia 2

Sources for Diaphragmatic Hernia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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