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"

21 matching diseasesClear search ×

Osteoporosis-oculocutaneous hypopigmentation syndrome

Hernández-Fragoso syndrome · OOCHS

ORPHA:2786

Acropectorovertebral dysplasia

F syndrome

ORPHA:957

Dermochondrocorneal dystrophy

François syndrome

ORPHA:79149

Fragile X syndrome

FRAXA syndrome · FXS

ORPHA:908

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

ORPHA:2052

Frasier syndrome

ORPHA:347

FRAXF syndrome

ORPHA:100974

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

ORPHA:662240

Fried syndrome

ORPHA:85335

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

ORPHA:2059

Gómez-López-Hernández syndrome

Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome

ORPHA:1532

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

ORPHA:2055

H syndrome

ORPHA:168569

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

ORPHA:2119

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

ORPHA:244242

Hernández-Aguirre Negrete syndrome

Intellectual disability-epilepsy-bulbous nose syndrome

ORPHA:2139

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

ORPHA:63261

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

HELIX syndrome

ORPHA:528105

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

ORPHA:1882

Marfanoid habitus-autosomal recessive intellectual disability syndrome

Fragoso-Cantú syndrome

ORPHA:2463

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377