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 ×

Oculoauriculovertebral spectrum with radial defects

Hemifacial microsomia-radial defects syndrome · Moeschler-Clarren syndrome

ORPHA:2549

C syndrome

OTCS · Opitz C trigonocephaly

ORPHA:1308

Chandler syndrome

ORPHA:98979

CLAPO syndrome

ORPHA:168984

Clark-Baraitser syndrome

ORPHA:600731

Cohen syndrome

ORPHA:193

Feingold syndrome

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

ORPHA:1305

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

MOMES syndrome

ORPHA:397973

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

ORPHA:77299

Moebius syndrome

Möbius syndrome

ORPHA:570

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

ORPHA:2563

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

ORPHA:75858

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

ORPHA:2717

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

ORPHA:2751

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246

Schnitzler syndrome

Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

ORPHA:37748