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"

22 matching diseasesClear search ×

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome

ORPHA:995

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

ORPHA:3328

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

ORPHA:363746

Behr syndrome

Behr complicated familial optic atrophy

ORPHA:1239

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

ORPHA:1241

Blue rubber bleb nevus

Bean syndrome · BRBN

ORPHA:1059

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

ORPHA:1173

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

Benallegue-Lacete syndrome

ORPHA:100978

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

ORPHA:115

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

ORPHA:2143

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

ORPHA:1969

H syndrome

ORPHA:168569

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

ORPHA:2110

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

ORPHA:73229

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

ORPHA:454718

Holmes-Gang syndrome

ORPHA:93970

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

ORPHA:392

Holzgreve syndrome

Holzgreve-Wagner-Rehder syndrome · Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome

ORPHA:2167

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

ORPHA:307936

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

ORPHA:397973

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

ORPHA:54247

Renal dysplasia-megalocystis-sirenomelia syndrome

Selig-Benacerraf-Greene syndrome

ORPHA:1850