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 ×

Neonatal hypoxic and ischemic brain injury

HIE · Hypoxic and ischemic brain injury in the newborn

Bronchiectasis-oligospermia syndrome

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

Idiopathic bronchiectasis

Myoclonic epilepsy in non-progressive encephalopathies

Myoclonus epilepsy in non-progressive encephalopathies · Myoclonic status in non-progressive encephalopathies

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

RAC2-related CID · Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

Richieri Costa-Pereira syndrome

Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

Thiel-Behnke corneal dystrophy

Anterior limiting membrane dystrophy type 2 · Corneal dystrophy of Bowman layer type 2

Thiemann disease, familial form

Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses

Harlequin ichthyosis

HI · Ichthyosis congenita, Harlequin type