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 56

Characteristics:

OMIM:

56
Inheritance:
x-linked vs. multifactorial with high male:female sex ratio


HPO:

31
hernia, anterior diaphragmatic:
Clinical modifier neonatal death


Classifications:



External Ids:

OMIM 56 306950
MedGen 41 C1844025
SNOMED-CT via HPO 68 17190001 276506001

Summaries for Hernia, Anterior Diaphragmatic

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

More information from OMIM: 306950

Related Diseases for Hernia, Anterior Diaphragmatic

Symptoms & Phenotypes for Hernia, Anterior Diaphragmatic

Human phenotypes related to Hernia, Anterior Diaphragmatic:

31
# Description HPO Frequency HPO Source Accession
1 congenital diaphragmatic hernia 31 HP:0000776

Symptoms via clinical synopsis from OMIM:

56
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

Articles related to Hernia, Anterior Diaphragmatic:

# Title Authors PMID Year
1
Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families. 56
519894 1979

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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