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"

9 matching diseasesClear search ×

Myosclerosis

Congenital myosclerosis, Löwenthal type

ORPHA:289380

Congenital lethal myopathy, Compton-North type

ORPHA:210163

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital myopathy, Paradas type

ORPHA:199329

Congenital sialidosis type 2

ORPHA:93400

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

ORPHA:88621

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

ORPHA:231662

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

ORPHA:231671

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

ORPHA:231679