MCID: CYN004
MIFTS: 6

Cyanosis and Hepatic Disease

Aliases & Classifications for Cyanosis and Hepatic Disease

MalaCards integrated aliases for Cyanosis and Hepatic Disease:

Name: Cyanosis and Hepatic Disease 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cyanosis and hepatic disease:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 219400
MedGen 42 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:

32
# Description HPO Frequency HPO Source Accession
1 dyspnea 32 HP:0002094
2 hepatitis 32 HP:0012115
3 cyanosis 32 HP:0000961
4 clubbing 32 HP:0001217
5 abnormality of abdomen morphology 32 HP:0001438

Symptoms via clinical synopsis from OMIM:

57
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. 8
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 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
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