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 54 74
Congenital Thrombocytopenia, Robin Sequence, Agenesis of the Corpus Callosum, Distinctive Facies and Developmental Delay 54
Braddock Carey Syndrome 54

Classifications:



External Ids:

UMLS 74 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 10.3
3 thrombocytopenia 10.0
4 isolated pierre robin sequence 10.0

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 Year
1
A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. ( 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
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
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