Rare Disease Library

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

HPS without pulmonary fibrosis · Hermansky-Pudlak syndrome without pulmonary fibrosis

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

HPS with pulmonary fibrosis · Hermansky-Pudlak syndrome with pulmonary fibrosis

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Immunodeficiency due to a classical component pathway complement deficiency

Immunodeficiency due to an early component of complement deficiency · Immunodeficiency due to C1, C4, or C2 component complement deficiency

Immunodeficiency due to a complement cascade component deficiency

Immunodeficiency due to a complement regulatory deficiency

Immunodeficiency due to a late component of complement deficiency

Immunodeficiency due to C5 to C9 component complement deficiency · Terminal complement pathway deficiency

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

Immunodeficiency due to ficolin3 deficiency

Immunodeficiency due to MASP-2 deficiency

Immunodeficiency syndrome with autoimmunity

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Late-onset combined immunodeficiency due to ICOS deficiency

Late-onset CID due to ICOS deficiency · Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency

Late-onset combined immunodeficiency due to ICOSL deficiency

Late-onset CID due to ICOSL deficiency · Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

MSMD due to complete RORgamma receptor defiency · Primary immunodeficiency due to RORC mutation

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

OBSOLETE: Other complex syndrome of primary immunodeficiency

OBSOLETE: Primary T cell immunodeficiency

Other immunodeficiency syndromes due to defects in innate immunity

Periodic fever-immunodeficiency-thrombocytopenia syndrome

PFITS

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

Pituitary deficiency due to empty sella turcica syndrome

Hypopituitarism due to empty sella turcica syndrome

Primary CD59 deficiency

Primary immunodeficiency

Primary immunodeficiency due to a defect in adaptive immunity

Primary immunodeficiency due to a defect in innate immunity

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency due to MCM4 deficiency

Primary immunodeficiency with predisposition to severe viral infection

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Rh deficiency syndrome

Rh-null syndrome

Severe combined immunodeficiency due to complete RAG1/2 deficiency

SCID due to complete RAG1/2 deficiency

Severe combined immunodeficiency due to CORO1A deficiency

SCID due to CORO1A deficiency · SCID due to coronin-1A deficiency

Severe combined immunodeficiency due to CTPS1 deficiency

SCID due to CTPS1 deficiency

Severe combined immunodeficiency due to DCLRE1C deficiency

SCID due to DCLRE1C deficiency · Severe combined immunodeficiency due to ARTEMIS deficiency

Severe combined immunodeficiency due to DNA-PKcs deficiency

SCID due to DNA-PKcs deficiency

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency · EXTL3-related neuro-immuno-skeletal dysplasia syndrome

Syndome with combined immunodeficiency due to thymic defect

Syndrome with combined immunodeficiency

Syndromic autoimmune enteropathy due to LRBA deficiency

Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein

Syndromic multisystem autoimmune disease due to Itch deficiency