Rare Disease Library

Common variable immunodeficiency phenotype due to homozygous TACI deficiency

CVID phenotype due to homozygous TACI deficiency · Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency

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

Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

CVID phenotype due to IRF2BP2 deficiency · Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency

Common variable immunodeficiency phenotype due to SEC61A1 deficiency

CVID due to SEC61A1 deficiency · Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency

Common variable immunodeficiency phenotype due to somatic mutations

CVID phenotype due to somatic mutations

Common variable immunodeficiency phenotype due to TWEAK deficiency

CVID phenotype due to TWEAK deficiency · Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis

Common variable immunodeficiency without known genetic defect

CVID without known genetic defect

Communicating congenital bronchopulmonary-foregut malformation

Congenital communicating hydrocephalus

Congenital non-obstructive hydrocephalus

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Alloimmune neonatal renal disease · FMAIG

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

MKL1-related neutrophil motility defect · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency

Congenital non-communicating hydrocephalus

Congenital obstructive hydrocephalus

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

MYSM1 deficiency

Congenital retinal arteriovenous communication

Congenital arteriovenous anastomoses of the retina · Congenital arteriovenous communication of the retina

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

CMV disease in patients with impaired cell mediated immunity deemed at risk

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Dianzani autoimmune lymphoproliferative disease

DALD

Diffuse large B-cell lymphoma with chronic inflammation

Diffuse large B-cell lymphoma · DLBCL

Disorder of gamma-aminobutyric acid metabolism

Disorder of GABA metabolism

Disorder of the gamma-glutamyl cycle

Disorder of urea cycle metabolism and ammonia detoxification

DNA repair defect other than combined T-cell and B-cell immunodeficiencies

Double outlet right ventricle with doubly committed ventricular septal defect

Double outlet right ventricle with non-committed subpulmonary ventricular septal defect

DORV with non-committed subpulmonary VSD

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect

DORV with subaortic or doubly committed VSD

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis

DORV with subaortic or doubly committed VSD with pulmonary stenosis · DORV, Fallot type

Drug-induced autoimmune hemolytic anemia

Drug-induced AIHA

Dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi

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

Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation

Early-onset CID with low Ig due to dominant-negative IKAROS mutation · Early-onset CID with low Ig due to dominant-negative IKZF1 mutation

Early-onset immune dysregulation due to DOCK11 complete deficiency

Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency

Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency

Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency

Extramammary Paget disease

F12-associated cold autoinflammatory syndrome

FACAS

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

FADD-related immunodeficiency

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Familial multiple nevi flammei

Familial multiple port-wine stains

Fetal and neonatal alloimmune thrombocytopenia

FNAIT · NAIT

Fibrohistiocytic inflammatory pseudotumor of the liver

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C