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"

9 matching diseasesClear search ×

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency · EXTL3-related neuro-immuno-skeletal dysplasia syndrome

ORPHA:508533

CHST3-related skeletal dysplasia

Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type

ORPHA:263463

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

ORPHA:1948

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

ORPHA:3219

Lethal occipital encephalocele-skeletal dysplasia syndrome

ORPHA:293925

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

ORPHA:2565

NEK9-related lethal skeletal dysplasia

Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

ORPHA:464366

OBSOLETE: ACAN-related skeletal dysplasia

ORPHA:435808

Skeletal dysplasia-epilepsy-short stature syndrome

Gurrieri-Sammito-Bellussi syndrome

ORPHA:1858