MCID: THR039
MIFTS: 8

Thrombocytopenia Robin Sequence

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Thrombocytopenia Robin Sequence

MalaCards integrated aliases for Thrombocytopenia Robin Sequence:

Name: Thrombocytopenia Robin Sequence 52 71
Congenital Thrombocytopenia, Robin Sequence, Agenesis of the Corpus Callosum, Distinctive Facies and Developmental Delay 52
Braddock Carey Syndrome 52

Classifications:



External Ids:

UMLS 71 C2931364

Summaries for Thrombocytopenia Robin Sequence

MalaCards based summary : Thrombocytopenia Robin Sequence, also known as congenital thrombocytopenia, robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay, is related to alacrima, achalasia, and mental retardation syndrome and jacobsen syndrome.

Related Diseases for Thrombocytopenia Robin Sequence

Diseases related to Thrombocytopenia Robin Sequence via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.5
2 jacobsen syndrome 10.4
3 down syndrome 10.4
4 pierre robin syndrome 10.4
5 zttk syndrome 10.4
6 microcephaly 10.0
7 thrombocytopenia 10.0
8 isolated pierre robin sequence 10.0

Graphical network of the top 20 diseases related to Thrombocytopenia Robin Sequence:



Diseases related to Thrombocytopenia Robin Sequence

Symptoms & Phenotypes for Thrombocytopenia Robin Sequence

Drugs & Therapeutics for Thrombocytopenia Robin Sequence

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia Robin Sequence

Genetic Tests for Thrombocytopenia Robin Sequence

Anatomical Context for Thrombocytopenia Robin Sequence

Publications for Thrombocytopenia Robin Sequence

Articles related to Thrombocytopenia Robin Sequence:

# Title Authors PMID Year
1
A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. 61
7515754 1994

Variations for Thrombocytopenia Robin Sequence

Expression for Thrombocytopenia Robin Sequence

Search GEO for disease gene expression data for Thrombocytopenia Robin Sequence.

Pathways for Thrombocytopenia Robin Sequence

GO Terms for Thrombocytopenia Robin Sequence

Sources for Thrombocytopenia Robin Sequence

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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