Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

11 matching diseasesClear search ×

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

ORPHA:289860

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

ORPHA:2768

Infant botulism

Infant intestinal botulism · Infant intestinal toxemia botulism

ORPHA:178478

Infantile apnea

Apnea of infancy · Apnea in full-term infants

ORPHA:70590

Infantile CLN1 disease

Infantile neuronal ceroid lipofuscinosis type 1

ORPHA:699718

Infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

ORPHA:699751

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

ORPHA:247165

Infantile nephronophthisis

Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis

ORPHA:93591

Metachromatic leukodystrophy, late infantile form

Arylsulfatase A deficiency, late infantile form · MLD, late infantile form

ORPHA:309256

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

OBSOLETE: Late infantile NCL · OBSOLETE: Jansky-Bielschowsky disease

ORPHA:168491