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"

14 matching diseasesClear search ×

Pulmonary arterial hypertension associated with connective tissue disease

PAH · PAH associated with connective tissue disease

ORPHA:275798

EMILIN-1-related connective tissue disease

ORPHA:485418

Lymphoproliferative disease associated with primary immune disease

ORPHA:98291

Mixed connective tissue disease

MCTD · Sharp syndrome

ORPHA:809

OBSOLETE: Connective tissue disease with eye involvement

ORPHA:98702

OBSOLETE: Unclassified overlapping connective tissue disease

ORPHA:251316

Overlapping connective tissue disease

ORPHA:251312

Pierre Robin syndrome associated with collagen disease

Pierre Robin sequence associated with collagen disease

ORPHA:138041

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

ORPHA:275791

Pulmonary arterial hypertension associated with congenital heart disease

PAH · PAH associated with congenital heart disease

ORPHA:275803

Pulmonary arterial hypertension associated with HIV infection

PAH · PAH associated with HIV infaction

ORPHA:275808

Rare hereditary connective tissue disease

ORPHA:619249

Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease

CTD-ILD · Secondary ILD in childhood and adulthood associated with a connective tissue disease

ORPHA:182104

Secondary interstitial lung disease specific to childhood associated with a connective tissue disease

Secondary ILD specific to childhood associated with a connective tissue disease

ORPHA:264704