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Items: 3

1.

SLC35A1-congenital disorder of glycosylation

An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. [from SNOMEDCT_US]

MedGen UID:
370234
Concept ID:
C1970344
Disease or Syndrome
2.

Bleeding disorder, platelet-type, 22

Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018). [from OMIM]

MedGen UID:
1673822
Concept ID:
C5193111
Disease or Syndrome
3.

Subcutaneous hemorrhage

This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). [from HPO]

MedGen UID:
451073
Concept ID:
C0854107
Disease or Syndrome
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