Rare Disease Library

Kuru

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

Kyphomelic dysplasia

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic EDS · kEDS

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP22-deficient EDS

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

L-2-hydroxyglutaric aciduria

L-2-HGA · L-2-hydroxyglutaric acidemia

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

L-ferritin deficiency

L1 syndrome

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

La Crosse encephalitis

Californian encephalitis

Lacrimal drainage system anomaly

Excretory apparatus of the lacrimal system anomaly

Lacrimal drainage system anomaly of genetic origin

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Lafora disease

EPM2 · PME type 2

Laing distal myopathy

Distal myopathy type 1 · MPD1

LAMA5-related multisystemic syndrome

Lamb-Shaffer syndrome

SOX5 haploinsufficiency syndrome

LAMB2-related infantile-onset nephrotic syndrome

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Lambert-Eaton myasthenic syndrome

Lamellar ichthyosis

LI

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

Laminin subunit alpha 2-related late-onset muscular dystrophy · Laminin subunit alpha 2-related LGMD R23

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

Laminopathy with lipodystrophy

Laminopathy with peripheral neuropathy

Laminopathy with premature aging

Laminopathy with striated muscle involvement

Landau-Kleffner syndrome

Acquired epileptic aphasia · LKS

Langer mesomelic dysplasia

Mesomelic dwarfism, Langer type

Langerhans cell histiocytosis

Histiocytosis X · Langerhans cell granulomatosis

Langerhans cell sarcoma

Large granular lymphocyte leukemia

Large/giant congenital melanocytic nevus

LGCMN · Large/giant CMN syndrome

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Larsen syndrome

Larsen-like osseous dysplasia-short stature syndrome

Larsen-like syndrome, B3GAT3 type

Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Laryngeal abductor paralysis

Familial vocal cord dysfunction · Gerhardt syndrome

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Laryngeal neuroendocrine tumor

Laryngo-onycho-cutaneous syndrome

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

Laryngocele