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Bernard-Soulier syndrome, type A1

MedGen UID:: 479778
•Concept ID:: C3278148
•: Disease or Syndrome

Synonym:	BERNARD-SOULIER SYNDROME, TYPE A1

OMIM®:	231200; 606672

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBernard Soulier syndrome
- CROGVBernard-Soulier syndrome type C
- Bernard-Soulier syndrome, type A1
- CROGVBernard-Soulier syndrome, type A1 (recessive)
- CROGVBernard-Soulier syndrome, type B

Isolated hereditary giant platelet disorder
- Bernard Soulier syndrome
  - Bernard-Soulier syndrome, type A1

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Bernard-Soulier syndrome, type A1
Bernard-Soulier syndrome, type A1

MedGen
PubChem Substance Links for Gene (Select 101928607) (5)
PubChem Substance
PREDICTED: Homo sapiens centrobin, centriole duplication and spindle assembly pr...
PREDICTED: Homo sapiens centrobin, centriole duplication and spindle assembly protein (CNTROB), transcript variant X11, mRNA
gi|2462552919|ref|XM_054314971.1|

Nucleotide
Profile neighbors for GEO Profiles (Select 27927531) (11)
GEO Profiles
tyrosyl-DNA phosphodiesterase 1 isoform X1 [Homo sapiens]
tyrosyl-DNA phosphodiesterase 1 isoform X1 [Homo sapiens]
gi|2462540871|ref|XP_054232340.1|

Protein

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