Rare Disease Library

Glycogen storage disease due to aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to glycogen synthase deficiency

GSD due to glycogen synthase deficiency · Glycogenosis due to glycogen synthase deficiency

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Histidinemia

HAL deficiency · HIS deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

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

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinemic hypoglycemia due to HNF1A deficiency

Hyperinsulinism due to INSR deficiency

Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinemic hypoglycemia due to UCP2 deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

Immunodeficiency due to ficolin3 deficiency

Immunodeficiency due to MASP-2 deficiency

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b 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

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

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

Obesity due to CEP19 deficiency

Obesity due to SIM1 deficiency

PGM3-CDG

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

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

Pyruvate carboxylase deficiency

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

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

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 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 early-onset axonal neuropathy due to MFN2 deficiency

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

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency