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"

7 matching diseasesClear search ×

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis · Congenital absence of pain with hyperhidrosis

ORPHA:217399

Hereditary sensory and autonomic neuropathy type 7

CIP with hyperhidrosis and gastrointestinal dysfunction · Hereditary sensory and autonomic neuropathy type VII

ORPHA:391397

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

ORPHA:653728

Congenital insensitivity to pain with severe intellectual disability

Congenital absence of pain with severe intellectual disability · Congenital analgesia with severe intellectual disability

ORPHA:453510

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

SCN9A-related congenital insensitivity to pain

ORPHA:88642

Hereditary sensory and autonomic neuropathy type 4

HSAN4 · CIPA

ORPHA:642

Hereditary sensory and autonomic neuropathy type 5

Congenital insensitivity to pain and thermal analgesia · HSAN5

ORPHA:64752