Rare Disease Library

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

Hamano-Tsukamoto syndrome

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Digital extensor muscle aplasia-polyneuropathy

Hamanishi-Ueba-Tsuji syndrome · Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

H syndrome

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

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

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hinman syndrome

HAS · HS

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Okamoto syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome