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"

15 matching diseasesClear search ×

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

ORPHA:90120

Acquired amyloid peripheral neuropathy

ORPHA:209013

Acquired peripheral neuropathy

ORPHA:182086

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585

Autosomal dominant optic atrophy and peripheral neuropathy

ORPHA:250932

Cerebellar ataxia with peripheral neuropathy

ORPHA:207028

Hereditary optic neuropathy

ORPHA:98671

Infectious disease with peripheral neuropathy

ORPHA:206613

Laminopathy with peripheral neuropathy

ORPHA:300758

Malignant lymphoma with peripheral neuropathy

ORPHA:207046

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

ORPHA:485421

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

ORPHA:543470

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

ORPHA:171848

Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder

SPOAN and SPOAN-related disorder

ORPHA:431320

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN

ORPHA:320406