MCID: HRN027
MIFTS: 8

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 57

Characteristics:

OMIM:

57
Inheritance:
x-linked vs. multifactorial with high male:female sex ratio


HPO:

32
hernia, anterior diaphragmatic:
Clinical modifier neonatal death


Classifications:



External Ids:

OMIM 57 306950
MedGen 42 C1844025

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:

32
# Description HPO Frequency HPO Source Accession
1 congenital diaphragmatic hernia 32 HP:0000776

Symptoms via clinical synopsis from OMIM:

57
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. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....