syndromic disease sickle cell-hemoglobin d disease syndrome https://github.com/monarch-initiative/mondo/issues/6746 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/sickle_cell_hemoglobin_d_disease_syndrome HbSD disease Orphanet:251370 MEDGEN:452366 sickle cell - haemoglobin D disease MONDO:0016670 UMLS:C0272084 GARD:0012458 MedDRA:10056724 A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln. sickle cell - hemoglobin D disease inherited hemoglobinopathy