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Athrombia, essential

MedGen UID:
349197
Concept ID:
C1859595
Disease or Syndrome
Synonyms: Athrombia, Essential
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 209050

Clinical features

Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Disease or Syndrome
Impaired platelet aggregation
MedGen UID:
383786
Concept ID:
C1855853
Finding
Impaired platelet adhesion
MedGen UID:
870256
Concept ID:
C4024694
Finding

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