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"

8 matching diseasesClear search ×

Rothmund-Thomson syndrome

Poikiloderma of Rothmund-Thomson · RTS

ORPHA:2909

Rothmund-Thomson syndrome type 1

Poikiloderma of Rothmund-Thomson type 1 · RTS1

ORPHA:221008

Rothmund-Thomson syndrome type 2

Poikiloderma of Rothmund-Thomson type 2 · RTS2

ORPHA:221016

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

ORPHA:1234

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

ORPHA:2117

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

ORPHA:89844

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

ORPHA:3103

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

ORPHA:568056