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"

198 matching diseasesClear search ×

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

ORPHA:3052

X-linked intellectual disability-short stature-overweight syndrome

ORPHA:457240

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

ORPHA:163956

X-linked non-syndromic intellectual disability

ORPHA:777

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436

ZTTK syndrome

Zhu-Tokita-Takenouchi-Kim syndrome · Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome

ORPHA:500150