MCID: CYN004
MIFTS: 7

Cyanosis and Hepatic Disease

Aliases & Classifications for Cyanosis and Hepatic Disease

MalaCards integrated aliases for Cyanosis and Hepatic Disease:

Name: Cyanosis and Hepatic Disease 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cyanosis and hepatic disease:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 219400
MedGen 41 C1857443

Summaries for Cyanosis and Hepatic Disease

MalaCards based summary : Cyanosis and Hepatic Disease Related phenotypes are dyspnea and hepatitis

More information from OMIM: 219400

Related Diseases for Cyanosis and Hepatic Disease

Symptoms & Phenotypes for Cyanosis and Hepatic Disease

Human phenotypes related to Cyanosis and Hepatic Disease:

31
# Description HPO Frequency HPO Source Accession
1 dyspnea 31 HP:0002094
2 hepatitis 31 HP:0012115
3 cyanosis 31 HP:0000961
4 clubbing 31 HP:0001217
5 abnormality of abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
dyspnea

Skin:
cyanosis

G I:
hepatitis

Skel:
digital clubbing

Clinical features from OMIM:

219400

Drugs & Therapeutics for Cyanosis and Hepatic Disease

Search Clinical Trials , NIH Clinical Center for Cyanosis and Hepatic Disease

Genetic Tests for Cyanosis and Hepatic Disease

Anatomical Context for Cyanosis and Hepatic Disease

Publications for Cyanosis and Hepatic Disease

Articles related to Cyanosis and Hepatic Disease:

# Title Authors PMID Year
1
Syndrome of cyanosis, digital clubbing, and hepatic disease in siblings. 56
4169366 1968

Variations for Cyanosis and Hepatic Disease

Expression for Cyanosis and Hepatic Disease

Search GEO for disease gene expression data for Cyanosis and Hepatic Disease.

Pathways for Cyanosis and Hepatic Disease

GO Terms for Cyanosis and Hepatic Disease

Sources for Cyanosis and Hepatic Disease

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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