Rare Disease Library

Histidinemia

HAL deficiency · HIS deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyperandrogenism due to cortisone reductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 1

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple carboxylase deficiency

MCD

NAD(P)HX dehydratase deficiency

CARKD deficiency

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Pentosuria

Essential pentosuria · Xylitol dehydrogenase deficiency

Pseudo-Zellweger syndrome

Thiolase deficiency

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate carboxylase deficiency

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

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

S-adenosylhomocysteine hydrolase deficiency

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta+ T-cell deficiency

Trehalase deficiency

Isolated trehalose intolerance

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency