MCID: BLR023
MIFTS: 6

Biliary Atresia with Splenic Malformation Syndrome

Categories: Fetal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Biliary Atresia with Splenic Malformation Syndrome

MalaCards integrated aliases for Biliary Atresia with Splenic Malformation Syndrome:

Name: Biliary Atresia with Splenic Malformation Syndrome 60
Basm Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
biliary atresia with splenic malformation syndrome
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q44.2
Orphanet 60 ORPHA244283

Summaries for Biliary Atresia with Splenic Malformation Syndrome

MalaCards based summary : Biliary Atresia with Splenic Malformation Syndrome, is also known as basm syndrome. An important gene associated with Biliary Atresia with Splenic Malformation Syndrome is CFC1 (Cripto, FRL-1, Cryptic Family 1). Affiliated tissues include liver.

Related Diseases for Biliary Atresia with Splenic Malformation Syndrome

Symptoms & Phenotypes for Biliary Atresia with Splenic Malformation Syndrome

Drugs & Therapeutics for Biliary Atresia with Splenic Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Biliary Atresia with Splenic Malformation Syndrome

Genetic Tests for Biliary Atresia with Splenic Malformation Syndrome

Anatomical Context for Biliary Atresia with Splenic Malformation Syndrome

MalaCards organs/tissues related to Biliary Atresia with Splenic Malformation Syndrome:

42
Liver

Publications for Biliary Atresia with Splenic Malformation Syndrome

Variations for Biliary Atresia with Splenic Malformation Syndrome

Expression for Biliary Atresia with Splenic Malformation Syndrome

Search GEO for disease gene expression data for Biliary Atresia with Splenic Malformation Syndrome.

Pathways for Biliary Atresia with Splenic Malformation Syndrome

GO Terms for Biliary Atresia with Splenic Malformation Syndrome

Sources for Biliary Atresia with Splenic Malformation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....