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"

66 matching diseasesClear search ×

OBSOLETE: Solitary median maxillary central incisor syndrome

OBSOLETE: SMMCI · OBSOLETE: Single upper central incisor

ORPHA:2286

OBSOLETE: Uniparental disomy of chromosome 1

OBSOLETE: UPD(1)

ORPHA:263019

OBSOLETE: Uniparental disomy of chromosome 11

OBSOLETE: UPD(11)

ORPHA:263034

OBSOLETE: Uniparental disomy of chromosome 13

OBSOLETE: UPD(13)

ORPHA:263044

OBSOLETE: Uniparental disomy of chromosome 14

OBSOLETE: UPD(14)

ORPHA:263049

OBSOLETE: Uniparental disomy of chromosome 15

OBSOLETE: UPD(15)

ORPHA:263054

OBSOLETE: Uniparental disomy of chromosome 20

OBSOLETE: UPD(20)

ORPHA:263059

OBSOLETE: Uniparental disomy of chromosome 21

OBSOLETE: UPD(21)

ORPHA:263064

OBSOLETE: Uniparental disomy of chromosome 6

OBSOLETE: UPD(6)

ORPHA:263024

OBSOLETE: Uniparental disomy of chromosome 7

OBSOLETE: UPD(7)

ORPHA:263029

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

ORPHA:306597

OBSOLETE: Xeroderma pigmentosum complementation group A

OBSOLETE: XPA

ORPHA:276249

OBSOLETE: Xeroderma pigmentosum complementation group B

OBSOLETE: XPB

ORPHA:276252

OBSOLETE: Xeroderma pigmentosum complementation group C

OBSOLETE: XPC

ORPHA:276255

OBSOLETE: Xeroderma pigmentosum complementation group D

OBSOLETE: XPD

ORPHA:276258

OBSOLETE: Xeroderma pigmentosum complementation group E

OBSOLETE: XPE

ORPHA:276261

OBSOLETE: Xeroderma pigmentosum complementation group F

OBSOLETE: XPF

ORPHA:276264

OBSOLETE: Xeroderma pigmentosum complementation group G

OBSOLETE: XPG

ORPHA:276267