Rare Disease Library

Idiopathic pregnancy-associated osteoporosis

PAO · Pregnancy and lactation-associated osteoporosis

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Nasu-Hakola disease

NHD · PLO-SL

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

B-lymphoblastic leukemia/lymphoma with hypodiploidy

Hypodiploid ALL

Combined immunodeficiency due to FOXN1 haploinsufficiency

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

Fibular dimelia-diplopodia syndrome

Leg duplication-mirror foot syndrome

Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

Mosaic variegated aneuploidy syndrome

Warburton-Anyane-Yeboa syndrome

OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

PDE4D haploinsufficiency syndrome

Polyploidy syndrome

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Tetraploidy syndrome

Triploidy syndrome