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 ×

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

CF · Lubani-Al Saleh-Teebi syndrome

ORPHA:2575

Acrofacial dysostosis, Kennedy-Teebi type

Kennedy-Teebi syndrome

ORPHA:64542

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

ORPHA:1094

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

ORPHA:1974

Eye defects-arachnodactyly-cardiopathy syndrome

Al Gazali-Al Talabani syndrome · Al Gazali-Lytle syndrome

ORPHA:2725

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

ORPHA:2432

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Al Awadi-Farag-Teebi syndrome

ORPHA:2232

Teebi-Shaltout syndrome

ORPHA:3291

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351