Rare Disease Library

Primary dystonia, DYT6 type

DYT6 · Generalized cervical and upper-limb-onset dystonia

Primary early-onset glaucoma

Primary effusion lymphoma

Body cavity-based lymphoma · PEL

Primary eosinophilic gastrointestinal disease

EGID

Primary erythromelalgia

Primary erythermalgia

Primary essential cutis verticis gyrata

Primary failure of tooth eruption

PFE · Primary retention of teeth

Primary familial polycythemia

Congenital erythrocytosis due to erythropoietin receptor mutation · Congenital polycythemia due to erythropoietin receptor mutation

Primary Fanconi renotubular syndrome

Primary Fanconi renal syndrome · DeToni-Debré-Fanconi syndrome

Primary genito-urinary tuberculosis

Urogenital tuberculosis

Primary germ cell tumor of central nervous system

Primary germ cell tumor of CNS

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

Primary hemophagocytic lymphohistiocytosis with hypopigmentation

Genetic hemophagocytic lymphohistiocytosis with hypopigmentation · Genetic HLH with hypopigmentation

Primary hemophagocytic lymphohistiocytosis without hypopigmentation

Genetic hemophagocytic lymphohistiocytosis without hypopigmentation · Genetic HLH without hypopigmentation

Primary hepatic neuroendocrine carcinoma

Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

Primary hypereosinophilic syndrome

Clonal hypereosinophilic syndrome · HES-M

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Al Awadi-Farag-Teebi syndrome

Primary hyperoxaluria

Primary hyperoxaluria type 1

Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Primary hyperoxaluria type 3

Primary hypertrophic osteoarthropathy

Idiopathic hypertrophic osteoarthropathy · PHO

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

FHHNC without severe ocular involvement · HOMG3

Primary hypomagnesemia with secondary hypocalcemia

HOMG1 · HSH

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Primary hypophysitis

Autoimmune hypophysitis

Primary immunodeficiency due to a defect in adaptive immunity

Primary immunodeficiency due to a defect in innate immunity

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to LAMTOR2 deficiency

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency due to MCM4 deficiency

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Primary immunodeficiency with post-MMR vaccine viral infection

Primary immunodeficiency with predisposition to severe viral infection

Primary inferior vena cava aneurysm

Primary interstitial lung disease in childhood and adulthood

Primary ILD in childhood and adulthood

Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder

Primary ILD in childhood and adulthood due to alveolar structure disorder

Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder

Primary ILD in childhood and adulthood due to alveolar vascular disorder

Primary interstitial lung disease specific to adulthood

Primary ILD specific to adulthood

Primary interstitial lung disease specific to childhood

Primary ILD specific to childhood

Primary interstitial lung disease specific to childhood due to alveolar structure disorder

Primary ILD specific to childhood due to alveolar structure disorder

Primary interstitial lung disease specific to childhood due to alveolar vascular disorder

Primary ILD specific to childhood due to alveolar vascular disorder

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

Primary ILD specific to childhood due to pulmonary surfactant protein anomalies

Primary intestinal lymphangiectasia

Waldmann disease

Primary intrahepatic lithiasis

Primary hepatolithiasis · PIHL

Primary laryngeal lymphangioma