Rare Disease Library

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Autosomal recessive spondylocostal dysostosis

Jarcho-Levin syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Diaphragmatic defect-limb deficiency-skull defect syndrome

Froster-Huch syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

H syndrome

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Holmes-Gang syndrome

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

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

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

KID syndrome

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

Kleine-Levin syndrome

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Lateral meningocele syndrome

Lehman syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Lemierre syndrome

Lemierre postanginal sepsis · Postanginal sepsis secondary to orophyngeal infection

Lethal short-limb dwarfism, McAlister-Crane type

McAlister-Crane syndrome

Lewis-Sumner syndrome

MADSAM · Multifocal acquired demyelinating sensory and motor neuropathy

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly