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"

10 matching diseasesClear search ×

Hobnail hemangioma

HH · Targetoid hemosiderotic hemangioma

ORPHA:675362

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

ORPHA:86908

Hemihyperplasia-multiple lipomatosis syndrome

HHML

ORPHA:276280

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

ORPHA:774

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

ORPHA:163

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

ORPHA:157215

Human herpesvirus 8-related disorder

HHV-8-related disorder

ORPHA:102024

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

ORPHA:415

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Gelastic seizures with hypothalamic hamartoma

GS-HH · Hypothalamic hamartoma with gelastic seizures

ORPHA:86906