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"

198 matching diseasesClear search ×

Severe hereditary thrombophilia due to congenital protein C deficiency

Autosomal recessive thrombophilia due to congenital protein C deficiency · Autosomal recessive thrombophilia due to PC deficiency

ORPHA:745

Severe hereditary thrombophilia due to congenital protein S deficiency

Autosomal recessive thrombophilia due to congenital protein S deficiency

ORPHA:743

Syndromic hereditary optic neuropathy

ORPHA:441434

X-linked distal hereditary motor neuropathy

X-linked dHMN · X-linked distal spinal muscular atrophy

ORPHA:404538

X-linked hereditary sensory and autonomic neuropathy with deafness

X-linked HSAN with deafness · X-linked auditory neuropathy with peripheral sensory neuropathy type 1

ORPHA:139583

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN

ORPHA:314485