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"

18 matching diseasesClear search ×

Dahlberg-Borer-Newcomer syndrome

Lymphedema-hypoparathyroidism syndrome · Dahlberg syndrome

ORPHA:1563

Autoimmune hypoparathyroidism

ORPHA:36913

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

ORPHA:1226

Cholestasis-lymphedema syndrome

Aagenaes syndrome

ORPHA:1414

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

ORPHA:3226

Genetic hypoparathyroidism

ORPHA:208593

Hyperparathyroidism-jaw tumor syndrome

HPT-JT

ORPHA:99880

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

ORPHA:2237

Lymphedema-distichiasis syndrome

ORPHA:33001

Lymphedema-ptosis syndrome

ORPHA:2419

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

ORPHA:2668

OBSOLETE: Syndromic lymphedema

ORPHA:89832

Pseudohypoparathyroidism

ORPHA:97593

Rare hypoparathyroidism

ORPHA:181405

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

ORPHA:2323

Syndrome with hypoparathyroidism

ORPHA:181402

Syndromic hypothyroidism

ORPHA:177107