Rare Disease Library

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

Beta-thalassemia associated with another hemoglobin anomaly

Beta-thalassemia associated with another Hb anomaly

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Fontan-associated liver disease

FALD

Hematological disease associated with an acquired peripheral neuropathy

Lymphoproliferative disease associated with primary immune disease

OBSOLETE: Sickle cell disease associated with another hemoglobin anomaly

Pierre Robin syndrome associated with bone disease

Pierre Robin sequence associated with bone disease

Pierre Robin syndrome associated with collagen disease

Pierre Robin sequence associated with collagen disease

Pulmonary arterial hypertension associated with chronic hemolytic anemia

PAH · PAH associated with chronic hemolytic anemia

Pulmonary arterial hypertension associated with congenital heart disease

PAH · PAH associated with congenital heart disease

Pulmonary arterial hypertension associated with connective tissue disease

PAH · PAH associated with connective tissue disease

Pulmonary arterial hypertension associated with HIV infection

PAH · PAH associated with HIV infaction

Pulmonary arterial hypertension associated with portal hypertension

PAH · PAH associated with portal hypertension

Pulmonary arterial hypertension associated with schistosomiasis

PAH · PAH associated with schistosomiasis

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD