MCID: HRN027
MIFTS: 9

Hernia, Anterior Diaphragmatic

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

Aliases & Classifications for Hernia, Anterior Diaphragmatic

MalaCards integrated aliases for Hernia, Anterior Diaphragmatic:

Name: Hernia, Anterior Diaphragmatic 58

Characteristics:

OMIM:

58
Inheritance:
x-linked vs. multifactorial with high male:female sex ratio


HPO:

33
hernia, anterior diaphragmatic:
Clinical modifier neonatal death


Classifications:



External Ids:

OMIM 58 306950
MedGen 43 C1844025
SNOMED-CT via HPO 70 17190001 276506001

Summaries for Hernia, Anterior Diaphragmatic

MalaCards based summary : Hernia, Anterior Diaphragmatic Related phenotype is congenital diaphragmatic hernia.

Description from OMIM: 306950

Related Diseases for Hernia, Anterior Diaphragmatic

Symptoms & Phenotypes for Hernia, Anterior Diaphragmatic

Human phenotypes related to Hernia, Anterior Diaphragmatic:

33
# Description HPO Frequency HPO Source Accession
1 congenital diaphragmatic hernia 33 HP:0000776

Symptoms via clinical synopsis from OMIM:

58
Abdomen:
congenital, anterior diaphragmatic hernia

Misc:
frequent neonatal death

Clinical features from OMIM:

306950

Drugs & Therapeutics for Hernia, Anterior Diaphragmatic

Search Clinical Trials , NIH Clinical Center for Hernia, Anterior Diaphragmatic

Genetic Tests for Hernia, Anterior Diaphragmatic

Anatomical Context for Hernia, Anterior Diaphragmatic

Publications for Hernia, Anterior Diaphragmatic

Variations for Hernia, Anterior Diaphragmatic

Expression for Hernia, Anterior Diaphragmatic

Search GEO for disease gene expression data for Hernia, Anterior Diaphragmatic.

Pathways for Hernia, Anterior Diaphragmatic

GO Terms for Hernia, Anterior Diaphragmatic

Sources for Hernia, Anterior Diaphragmatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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