Rare Disease Library

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Absent thumb-short stature-immunodeficiency syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Diaphragmatic defect-limb deficiency-skull defect syndrome

Froster-Huch syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

Immunodeficiency syndrome with autoimmunity

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to LAMTOR2 deficiency

Rh deficiency syndrome

Rh-null syndrome

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Syndrome with combined immunodeficiency

Transverse limb deficiency-hemangioma syndrome

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

Wiskott-Aldrich syndrome

Eczema-thrombocytopenia-immunodeficiency syndrome · WAS

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2