Rare Disease Library

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

CHARGE syndrome

CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

H syndrome

Hall-Riggs syndrome

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hinman syndrome

HAS · HS

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Ogden syndrome

Premature aging appearance-developmental delay-cardiac arrhythmia syndrome

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Sheldon-Hall syndrome

SSH · DA2B

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome