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 ×

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

ORPHA:141333

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

ORPHA:85203

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

ORPHA:2957

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

ORPHA:2110

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

ORPHA:3332

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

ORPHA:2473

Mikati-Najjar-Sahli syndrome

Microcephaly-hypergonadotropic hypogonadism-short stature syndrome

ORPHA:2558

Non-syndromic preaxial polydactyly

ORPHA:498464

OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome

ORPHA:2245

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome

ORPHA:2921

Short rib-polydactyly syndrome

ORPHA:1505

Short rib-polydactyly syndrome type 5

ORPHA:498497

Short rib-polydactyly syndrome, Beemer-Langer type

Short rib-polydactyly syndrome type 4

ORPHA:93268

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

ORPHA:93269

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1

ORPHA:93270

Short rib-polydactyly syndrome, Verma-Naumoff type

Short rib-polydactyly syndrome type 3

ORPHA:93271