Rare Disease Library

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

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

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency · CID-cancer predisposing syndrome due to AIOLOS deficiency

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Hermansky-Pudlak syndrome due to AP-3 deficiency

Hermansky-Pudlak syndrome with neutropenia · Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

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

Mitochondrial DNA maintenance syndrome

mtDNA maintenance syndrome

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

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

Pyruvate carboxylase deficiency

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

Rh deficiency syndrome

Rh-null syndrome

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

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

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

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2