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"

6 matching diseasesClear search ×

OBSOLETE: X-linked acrogigantism due to a point mutation

OBSOLETE: Familial infantile gigantism due to a point mutation · OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation

ORPHA:448348

Familial clubfoot due to PITX1 point mutation

Hereditary clubfoot due to PITX1 point mutation

ORPHA:293150

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation

ORPHA:98071

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation

ORPHA:261572

OBSOLETE: X-linked acrogigantism due to Xq26 microduplication

OBSOLETE: X-LAG due to dup(X)q(26) · OBSOLETE: Familial infantile gigantism due to dup(X)q(26)

ORPHA:448372

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

ORPHA:300373