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 ×

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Al Awadi-Farag-Teebi syndrome

ORPHA:2232

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

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

CF · Lubani-Al Saleh-Teebi syndrome

ORPHA:2575

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

ORPHA:2432

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis

ORPHA:2879

Teebi-Shaltout syndrome

ORPHA:3291