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"

16 matching diseasesClear search ×

Male infertility due to globozoospermia

Round-headed sperm syndrome · Male infertility due to round-headed spermatozoa

ORPHA:171709

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

ORPHA:1305

H syndrome

ORPHA:168569

Heart-hand syndrome

Atriodigital dysplasia

ORPHA:228184

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

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

ORPHA:523

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

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

ORPHA:137893

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

ORPHA:2470

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

ORPHA:313800

Rombo syndrome

ORPHA:3110

Rotor syndrome

Hyperbilirubinemia, Rotor type

ORPHA:3111

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377