domingo, 10 de marzo de 2019

ClinGen Knowledge Base | Clinical Genome Resource

ClinGen Knowledge Base | Clinical Genome Resource

Sickle Cell

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sickle cell-beta-thalassemia disease syndrome

MONDO_0016668 Condition
HbS-beta-thalassemia syndrome

sickle cell disease associated with an other hemoglobin anomaly

MONDO_0016667 Condition
Double heterozygotes sickling disorder

sickle cell anemia

MONDO_0011382 Condition
Hemoglobin S disease without crisis (disorder)

sickle cell-hemoglobin E disease syndrome

MONDO_0016671 Condition
HbSE disease

sickle cell-hemoglobin c disease syndrome

MONDO_0016669 Condition
HbSC disease

sickle cell-hemoglobin d disease syndrome

MONDO_0016670 Condition
HbSD disease

hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

MONDO_0016672 Condition
HPFH-sickle cell disease syndrome

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