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"

10,912 rare diseases

Craniometaphyseal dysplasia

ORPHA:1522

Craniomicromelic syndrome

ORPHA:1524

Craniopharyngioma

ORPHA:54595

Craniorachischisis

ORPHA:63260

Craniorhiny

ORPHA:157832

Craniostenosis with strabismus

ORPHA:98684

Craniosynostosis

ORPHA:1531

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

ORPHA:85199

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

ORPHA:1538

Craniosynostosis-dental anomalies

Kreiborg-Pakistani syndrome

ORPHA:284149

Craniosynostosis-dysmorphism-brachydactyly syndrome

Glass-Chapman-Hockley syndrome

ORPHA:1535

Craniosynostosis-facial dysmorphism-brachydactyly syndrome

TCF12-related syndromic craniosynostosis

ORPHA:672979

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ERF-related syndromic craniosynostosis

ORPHA:647681

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

ORPHA:171839

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

ORPHA:52054

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

ORPHA:565858

Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome

ZIC1-related syndromic craniosynostosis

ORPHA:672985

Craniosynostosis, Boston type

Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

ORPHA:1541

Craniosynostosis, Herrmann-Opitz type

ORPHA:2145

Craniosynostosis, Philadelphia type

ORPHA:1527

Craniotelencephalic dysplasia

ORPHA:1528

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

ORPHA:79172

Cree leukoencephalopathy

ORPHA:99854

Creeping myiasis

Migratory myiasis

ORPHA:504

CREST syndrome

Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome

ORPHA:90290

Crigler-Najjar syndrome

Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency

ORPHA:205

Crigler-Najjar syndrome type 1

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · Bilirubin-UGT deficiency type 1

ORPHA:79234

Crigler-Najjar syndrome type 2

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 · Bilirubin-UGT deficiency type 2

ORPHA:79235

Crimean-Congo hemorrhagic fever

CCHF · Congo fever

ORPHA:99827

Crisponi syndrome

ORPHA:1545

Criss-cross heart

Criss-cross atrioventricular relationships · Superoinferior ventricles

ORPHA:1461

Cronkhite-Canada syndrome

Gastrointestinal polyposis-ectodermal changes syndrome · Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome

ORPHA:2930

Crossed polysyndactyly

ORPHA:2935

Crouzon syndrome

Crouzon craniofacial dysostosis

ORPHA:207

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

ORPHA:93262

Cryoglobulinemic vasculitis

Essential cryoglobulinemia · Essential mixed cryoglobulinemia

ORPHA:91138

Cryptococcosis

ORPHA:1546

Cryptogenic late-onset epileptic spasms

Late-onset infantile spasms

ORPHA:163708

Cryptogenic multifocal ulcerous stenosing enteritis

CMUSE

ORPHA:468635

Cryptogenic organizing pneumonia

COP · Bronchiolitis obliterans organizing pneumonia

ORPHA:1302

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

ORPHA:1547

Cryptophthalmia

ORPHA:98562

Cryptorchidism-arachnodactyly-intellectual disability syndrome

Van Benthem-Driessen-Hanveld syndrome

ORPHA:1548

Cryptosporidiosis

Cryptosporidium infection

ORPHA:697096

CTCF-related neurodevelopmental disorder

ORPHA:363611

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

ORPHA:307766

Currarino syndrome

Currarino triad

ORPHA:1552

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

ORPHA:1553