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 ×

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

ORPHA:300373

Benign non-familial infantile seizures

ORPHA:166295

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

ORPHA:225154

Familial infantile myoclonic epilepsy

FIME · Familial infantile myoclonus epilepsy

ORPHA:352582

Familial juvenile hypertrophy of the breast

Familial juvenile gigantomastia · Virginal breast hypertrophy

ORPHA:180176

Familial ossifying fibroma

Multiple ossifying fibroma · Familial Gigantiform cementoma

ORPHA:435329

Infant botulism

Infant intestinal botulism · Infant intestinal toxemia botulism

ORPHA:178478

OBSOLETE: X-linked acrogigantism due to a point mutation

OBSOLETE: Familial infantile gigantism due to a point mutation · OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation

ORPHA:448348

OBSOLETE: X-linked acrogigantism due to Xq26 microduplication

OBSOLETE: X-LAG due to dup(X)q(26) · OBSOLETE: Familial infantile gigantism due to dup(X)q(26)

ORPHA:448372

Self-limited infantile epilepsy

BFIE · BFIS

ORPHA:306

Self-limited neonatal-infantile epilepsy

SeLFNIE · Benign familial neonatal-infantile seizures

ORPHA:140927