Rare Disease Library

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

Helsmoortel-Van der Aa syndrome

ADNP-related syndromic intellectual disability-autism spectrum disorder · ADNP-related Helsmoortel-Van der Aa syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

Hinman syndrome

HAS · HS

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Holzgreve syndrome

Holzgreve-Wagner-Rehder syndrome · Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome

Hurler syndrome

Hurler disease · MPS1H

Hyper-IgE syndrome

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

HELIX syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Nance-Horan syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

OBSOLETE: Van den Bosch syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Revesz syndrome

Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome

Ring dermoid of cornea

Ring dermoid syndrome