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 ×

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

ORPHA:83471

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

ORPHA:180188

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

ORPHA:1987

Isolated foveal hypoplasia

ORPHA:519398

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

ORPHA:294973

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

ORPHA:294988

Isolated optic nerve hypoplasia

ORPHA:637061

Isolated patella aplasia/hypoplasia

PTLAH

ORPHA:86789

OBSOLETE: Isolated optic nerve hypoplasia/aplasia

ORPHA:137902