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"

61 matching diseasesClear search ×

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

ORPHA:1900

Multiple carboxylase deficiency

MCD

ORPHA:148

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

ORPHA:88639

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

ORPHA:443811

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

ORPHA:1578

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

ORPHA:3008

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate carboxylase deficiency type B

ORPHA:353314

Pyruvate dehydrogenase E1-beta deficiency

PDHBD · Pyruvate dehydrogenase complex E1 component subunit beta deficiency

ORPHA:255138

Severe combined immunodeficiency due to CTPS1 deficiency

SCID due to CTPS1 deficiency

ORPHA:420573

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ SCID due to CD45 deficiency

ORPHA:169157

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

ORPHA:882

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency

ORPHA:317476