Rare Disease Library

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

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP22-deficient EDS

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lethal arteriopathy syndrome due to fibulin-4 deficiency

Leydig cell hypoplasia due to LHB deficiency

46,XY DSD due to LHB deficiency · 46,XY DSD due to luteinizing hormone subunit beta deficiency

Limb-girdle muscular dystrophy due to POMK deficiency

LGMD due to POMK deficiency

Lipodystrophy due to peptidic growth factors deficiency

Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner-Dreyer-Reimers syndrome

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

MSMD due to partial STAT1 deficiency · MSMD due to partial signal transducer and activator of transcription 1 deficiency

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency, prenatal form

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

Obesity due to prohormone convertase I deficiency

PCI deficiency

Obesity due to SIM1 deficiency

Other immunodeficiency syndromes due to defects in innate immunity

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

Porphyria due to ALA dehydratase deficiency

ALAD porphyria · Porphyria due to ALAD deficiency

Postural orthostatic tachycardia syndrome due to NET deficiency

Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

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

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

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Radial deficiency-tibial hypoplasia syndrome

Rh deficiency syndrome

Rh-null syndrome

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 due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

Severe congenital neutropenia due to JAGN1 deficiency

Severe congenital neutropenia due to jagunal homolog 1 deficiency · SCN due to JAGN1 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 early-onset axonal neuropathy due to MFN2 deficiency

AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency 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

Syndromic autoimmune enteropathy due to LRBA deficiency

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

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ SCID due to CD45 deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ SCID due to JAK3 deficiency