Rare Disease Library

Infantile hypophosphatasia

Infantile phosphoethanolaminuria · Infantile Rathbun disease

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Gaucher disease type 2

Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

Hypophosphatasia

HPP · Phosphoethanolaminuria

IL21-related infantile inflammatory bowel disease

IL21-related infantile IBD

Infantile CLN1 disease

Infantile neuronal ceroid lipofuscinosis type 1

Infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

Infantile LAD-like disease due to RAC2 deficiency

Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency

Infantile Refsum disease

IRD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder

Late infantile CLN1 disease

Late infantile neuronal ceroid lipofuscinosis type 1

Late infantile CLN10 disease

Late infantile neuronal ceroid lipofuscinosis type 10

Late infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

Late infantile CLN5 disease

Late infantile neuronal ceroid lipofuscinosis type 5

Late infantile CLN6 disease

Late infantile neuronal ceroid lipofuscinosis type 6

Late infantile CLN8 disease

Late infantile neuronal ceroid lipofuscinosis type 8

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Lethal infantile mitochondrial myopathy

LIMM · LIMD

Perinatal lethal hypophosphatasia

Perinatal lethal phosphoethanolaminuria · Perinatal lethal Rathbun disease

Prenatal benign hypophosphatasia

Prenatal benign phosphoethanolaminuria · Prenatal benign Rathbun disease

Rare infectious disease

Sandhoff disease, infantile form

GM2 gangliosidosis, Sandhoff variant, infantile form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form

Severe Canavan disease

Infantile Canavan disease · Neonatal Canavan disease

Tay-Sachs disease, infantile form

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