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 ×

Carcinoid syndrome

Malignant carcinoid syndrome

ORPHA:100093

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

ORPHA:393

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

ORPHA:71505

Cantú syndrome

Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum

ORPHA:1517

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

ORPHA:1359

Caroli syndrome

ORPHA:480520

Chronic atrial and intestinal dysrhythmia syndrome

CAID syndrome · Chronic atrial dysrhythmia-intestinal motility disorder

ORPHA:435988

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

ORPHA:85199

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

ORPHA:2229

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

ORPHA:377

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

ORPHA:79403

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

ORPHA:294016

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

ORPHA:500135

Neuroleptic malignant syndrome

ORPHA:94093

Retinal degeneration-nanophthalmos-glaucoma syndrome

Mackay-Shek-Carr syndrome

ORPHA:1574