MCID: HRS042
MIFTS: 6

Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly

Aliases & Classifications for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

MalaCards integrated aliases for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly:

Name: Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 56 29

External Ids:

OMIM 56 604211
MedGen 41 C1858696

Summaries for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

MalaCards based summary : Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly Affiliated tissues include heart and colon.

More information from OMIM: 604211

Related Diseases for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

Symptoms & Phenotypes for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

Clinical features from OMIM:

604211

Drugs & Therapeutics for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly

Genetic Tests for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

Genetic tests related to Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly:

# Genetic test Affiliating Genes
1 Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 29

Anatomical Context for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

MalaCards organs/tissues related to Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly:

40
Heart, Colon

Publications for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

Articles related to Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly:

# Title Authors PMID Year
1
A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. 56
11336448 1999

Variations for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

Expression for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

Search GEO for disease gene expression data for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly.

Pathways for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

GO Terms for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

Sources for Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and...

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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