Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program K/1 ENGLISH

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program





K/1



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• Kabuki make up syndrome - See Kabuki syndrome
• Kabuki syndrome
• Kaeser syndrome - See Scapuloperoneal syndrome, neurogenic, Kaeser type
• Kagami-Ogata syndrome - See Paternal uniparental disomy of chromosome 14
• Kahler disease - See Multiple myeloma
• KAL1 - See Kallmann syndrome 1
• KAL2 - See Kallmann syndrome 2
• KAL3 - See Kallmann syndrome 3
• KAL4 - See Kallmann syndrome 4
• KAL5 - See Kallmann syndrome 5
• KAL6 - See Kallmann syndrome 6
• Kala-azar - See Leishmaniasis
• Kaler Garrity Stern syndrome - See Osteopenia and sparse hair
• Kallikrein attenuated hypertension - See Kallikrein hypertension
• Kallikrein hypertension
• Kallmann syndrome
• Kallmann syndrome 1
• Kallmann syndrome 2
• Kallmann syndrome 3
• Kallmann syndrome 4
• Kallmann syndrome 5
• Kallmann syndrome 6
• Kallmann syndrome, type 1, X-linked - See Kallmann syndrome 1
• Kallmann syndrome, X-linked - See Kallmann syndrome 1
• Kallmann's syndrome - See Kallmann syndrome
• KANSL1-Related Intellectual Disability Syndrome - See Koolen de Vries syndrome
• Kantaputra mesomelic dysplasia - See Mesomelic dysplasia Kantaputra type
• Kanzaki disease
• Kaolin pneumoconiosis
• Kaplan Plauchu Fitch syndrome
• Kaposi sarcoma
• Kaposi sarcoma herpesvirus - See Kaposi sarcoma
• Kaposiform hemangio-endothelioma - See Kaposiform Hemangioendothelioma
• Kaposiform Hemangioendothelioma
• Kaposi's sarcoma - See Kaposi sarcoma
• Kapur Toriello syndrome
• Karak syndrome
• KARAK SYNDROME, INCLUDED - See Infantile neuroaxonal dystrophy
• Karandikar Maria Kamble syndrome
• Karl Adolph von Basedow - See Basedow's coma
• Karsch-Neugebauer syndrome - See Split hand split foot nystagmus
• Kartagener syndrome
• Karyomegalic interstitial nephritis
• Kasabach Merritt phenomenon - See Hemangioma thrombocytopenia syndrome
• Kasabach Merritt syndrome - See Hemangioma thrombocytopenia syndrome
• Kashani Strom Utley syndrome
• Kast Syndrome - See Maffucci syndrome
• Kasznica Carlson Coppedge syndrome
• Katayama fever - See Schistosomiasis
• Katsantoni Papadakou Lagoyanni syndrome
• Kaufman McKusick syndrome - See McKusick Kaufman syndrome
• Kaufman oculocerebrofacial syndrome
• Kawasaki disease
• Kawasaki syndrome - See Kawasaki disease
• Kawashima tsuji syndrome - See Microcephaly deafness syndrome
• KBG syndrome
• KC - See Keratoconus
• KCNK9 imprinting syndrome - See Birk-Barel syndrome
• KCNQ2-Related Disorders
• KCS1 - See Kenny-Caffey syndrome type 1
• KCS2 - See Kenny-Caffey syndrome type 2
• Kearns-Sayre syndrome
• kEDS - See Kyphoscoliotic Ehlers-Danlos syndrome
• Keipert Syndrome - See Nasodigitoacoustic syndrome
• Keller syndrome - See FG syndrome
• Kelly-Paterson syndrome - See Plummer Vinson syndrome
• Kelly's syndrome - See Plummer Vinson syndrome
• Kennedy disease
• Kennerknecht Sorgo Oberhoffer syndrome - See PAGOD syndrome
• Kenny-Caffey syndrome type 1
• Kenny-Caffey syndrome type 2
• Kenny-Caffey syndrome, autosomal dominant - See Kenny-Caffey syndrome type 2
• Kenny-Caffey syndrome, autosomal recessive - See Kenny-Caffey syndrome type 1
• Kerasin lipoidosis - See Gaucher disease
• Kerasin thesaurismosis - See Gaucher disease
• Keratitis sicca - See Keratoconjunctivitis sicca - not a rare disease
• Keratitis, hereditary
• Keratitis, Ichthyosis, and Deafness (KID) Syndrome - See KID syndrome
• Keratitis-ichthyosis-deafness syndrome, autosomal dominant - See KID syndrome
• Keratitis-ichthyosis-deafness syndrome, autosomal recessive - See Ichthyosiform erythroderma, corneal involvement, deafness
• Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome - See KID syndrome
• Keratoacanthoma - See Muir-Torre syndrome
• Keratoactinomycosis - See Actinomycosis
• Keratoconjunctivitis sicca - not a rare disease
• Keratoconus
• Keratoconus posticus circumscriptus
• Keratoderma hereditarium mutilans - See Vohwinkel syndrome
• Keratoderma palmoplantar deafness
• Keratoderma palmoplantar spastic paralysis
• Keratoderma palmoplantar striate form 3 - See Keratosis palmoplantaris striata 3
• Keratoderma palmoplantar, punctate type 2 - See Punctate palmoplantar keratoderma type 2
• Keratoderma palmoplantar, with deafness - See Keratoderma palmoplantar deafness
• Keratoderma palmoplantaris transgrediens
• Keratoderma with woolly hair type II - See Cardiomyopathy dilated with woolly hair and keratoderma
• Keratoderma, epidermolytic palmoplantar - See Palmoplantar keratoderma, epidermolytic
• Keratoderma, hypotrichosis and leukonychia totalis - See Basaran Yilmaz syndrome
• Keratoderma, Palmoplantar - See Palmoplantar keratoderma
• Keratoderma, palmoplantar punctate type 1 - See Punctate palmoplantar keratoderma type I
• Keratoderma, palmoplantar striate form 1 - See Keratosis palmoplantaris striata 1
• Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy - See Keratoderma palmoplantar spastic paralysis
• Keratodermia palmoplantar periorificial - See Judge Misch Wright syndrome
• Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type - See Punctate palmoplantar keratoderma type I
• Keratolysis exfoliativa congenita - See Peeling skin syndrome
• Keratolytic winter erythema
• Keratomalacia
• Keratoneuralgia - See Corneal neuropathic disease
• Keratoris palmoplantaris with periodontopathia - See Papillon Lefevre syndrome
• Keratosis exfoliativa congenita - See Peeling skin syndrome
• Keratosis extremitatum hereditaria progrediens - See Keratoderma palmoplantaris transgrediens
• Keratosis focal palmoplantar gingival - See Focal palmoplantar and gingival keratoderma
• Keratosis follicularis - See Darier disease
• Keratosis follicularis dwarfism and cerebral atrophy
• Keratosis follicularis spinulosa decalvans
• Keratosis follicularis spinulosa decalvans cum ophiasi - See Keratosis follicularis spinulosa decalvans
• Keratosis of Greither - See Palmoplantar keratoderma, epidermolytic
• Keratosis palmaris et plantaris familiaris - See Palmoplantar keratoderma, epidermolytic
• Keratosis palmaris et plantaris with esophageal cancer - See Tylosis with esophageal cancer
• Keratosis palmoplantar - periodontopathy - See Papillon Lefevre syndrome
• Keratosis palmoplantaris adenocarcinoma of the colon
• Keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair - See Naxos disease
• Keratosis palmoplantaris papulosa - See Punctate palmoplantar keratoderma type I
• Keratosis palmoplantaris striata 1
• Keratosis palmoplantaris striata 3
• Keratosis palmoplantaris transgradiens of Siemens - See Meleda disease
• Keratosis palmoplantaris transgrediens et progrediens - See Keratoderma palmoplantaris transgrediens
• Keratosis palmoplantaris with corneal dystrophy - See Tyrosinemia type 2
• Keratosis palmoplantaris with esophageal cancer - See Tylosis with esophageal cancer
• Keratosis palmoplantaris with periodontopathia - See Papillon Lefevre syndrome
• Keratosis palmoplantaris with periodontopathia and onychogryposis - See Haim-Munk syndrome
• Keratosis palmoplantaris-esophageal carcinoma syndrome - See Tylosis with esophageal cancer
• Keratosis palmoplantar-periodontopathy syndrome - See Papillon Lefevre syndrome
• Keratosis pilaris affecting the follicles of the eyebrow hairs - See Ulerythema ophryogenesis
• Keratosis Pilaris Atrophicans Facies - See Burnett Schwartz Berberian syndrome
• Keratosis Seborrheica - See Seborrheic keratosis - not a rare disease
• Keratosis, seborrheic - See Seborrheic keratosis - not a rare disease
• Kerion celsi
• Kernicterus
• Kernicterus spectrum disorder - See Kernicterus
• Keshan disease
• Keto acid decarboxylase deficiency - See Maple syrup urine disease
• Ketoacidosis due to SCOT deficiency - See SCOT deficiency
• Ketoaciduria - intellectual disability - ataxia - deafness - See Richards-Rundle syndrome
• Ketoaciduria-intellectual disability-ataxia-deafness syndrome - See Richards-Rundle syndrome
• Ketoaciduria-mental deficiency syndrome - See Richards-Rundle syndrome
• Ketohexokinase deficiency - See Fructosuria - not a rare disease
• Ketotic glycinemia - See Propionic acidemia
• Ketotic hyperglycinemia - See Propionic acidemia
• Keutel syndrome
• KFD - See Kyasanur Forest disease
• KFD virus - See Kyasanur Forest disease
• KFSD - See Keratosis follicularis spinulosa decalvans
• KH - See Kaposiform Hemangioendothelioma
• KHE - See Kaposiform Hemangioendothelioma
• KHM - See Vohwinkel syndrome
• KIAA1670 - See Carnitine palmitoyltransferase I deficiency , muscle
• KICS - See KSHV inflammatory cytokine syndrome
• KID syndrome
• KID syndrome, autosomal dominant - See KID syndrome
• KID syndrome, autosomal recessive - See Ichthyosiform erythroderma, corneal involvement, deafness
• KID/HID syndrome - See KID syndrome
• Kidney cancer, childhood
• Kidney Medullary Carcinoma - See Renal medullary carcinoma
• Kienbock disease - See Kienbock's disease
• Kienbock's disease
• Kifafa seizure disorder
• Kikuchi disease
• Kikuchi necrotizing lymphadenitis - See Kikuchi disease
• Kikuchi-Fujimoto disease - See Kikuchi disease
• Kikuchi-Fujimoto's disease - See Kikuchi disease
• Kikuchi's disease - See Kikuchi disease
• Killian syndrome - See Pallister-Killian mosaic syndrome
• Killian Teschler-Nicola syndrome - See Pallister-Killian mosaic syndrome
• Kimura disease
• KIN - See Karyomegalic interstitial nephritis
• Kindler syndrome
• King Denborough syndrome
• King syndrome - See King Denborough syndrome
• Kingella infections
• Kinky hair disease - See Menkes disease
• Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation (formerly) - SeeHair defect-photosensitivity-intellectual disability syndrome
• Kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails - SeeTricho-dento-osseous syndrome 1
• Kinsbourne syndrome - See Opsoclonus-myoclonus syndrome
• Kirghizian Dermatoosteolysis - See Dermatoosteolysis Kirghizian type
• Kirner deformity - See Dystelephalangy
• Kitamura reticulate acropigmentation - See Dowling-Degos disease
• Kjellin syndrome - See Spastic paraplegia 15
• Kjer-type optic atrophy - See Optic atrophy 1
• Klatskin tumor
• Klatskin's tumor - See Klatskin tumor
• Klebsiella - See Klebsiella infection
• Klebsiella infection
• Kleeblattschaedel deformity syndrome - See Kleeblattschaedel syndrome
• Kleeblattschaedel syndrome
• Kleefstra syndrome
• Kleine Levin syndrome
• Kleine-Levin hibernation syndrome - See Kleine Levin syndrome
• Kleiner Holmes syndrome
• Klein-Waardenburg syndrome - See Waardenburg syndrome type 3
• Klinefelter syndrome - not a rare disease
• Klinefelter's syndrome - See Klinefelter syndrome - not a rare disease
• Klippel Feil syndrome
• Klippel Trenaunay syndrome - See Klippel-Trenaunay syndrome
• Klippel-feil deformity, conductive deafness, and absent vagina - See MURCS association
• Klippel-Feil syndrome with laryngeal malformation - See Segmentation syndrome 1
• Klippel-Trenaunay syndrome
• Klippel-Trenaunay-Weber syndrome - See Klippel-Trenaunay syndrome
• Klippel-Trénaunay-Weber syndrome - See Klippel-Trenaunay syndrome
• Klumpke paralysis
• Klumpke's palsy - See Klumpke paralysis
• Kluver Bucy syndrome
• KMP - See Hemangioma thrombocytopenia syndrome
• KMS - See Kabuki syndrome
• KMT2B-Related Dystonia - See DYT-KMT2B
• Knee replacement infection - See Prosthetic joint infection
• Kniest dysplasia
• Kniest like dysplasia lethal
• Kniest-like dysplasia with pursed lips and ectopia lentis
• Knobloch syndrome
• KNS - See Split hand split foot nystagmus
• Knuckle pads, leuconychia and sensorineural deafness
• Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - See Knuckle pads, leuconychia and sensorineural deafness
• Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome - See Knuckle pads, leuconychia and sensorineural deafness
• Kocher Debre Semelaigne disease - See Kocher-Debre-Semelaigne syndrome
• Kocher-Debre-Semelaigne syndrome
• Kochs disease - See Tuberculosis
• Kohler disease
• Kohler's Disease - See Kohler disease
• Kohler's Disease of the Tarsal Navicular - See Kohler disease
• Kohler's Osteochondrosis of the Tarsal Navicular - See Kohler disease
• Kohler's second disease - See Freiberg's disease
• Kohlmeier-Degos disease - See Degos disease
• Kohlschutter syndrome - See Kohlschutter Tonz syndrome
• Kohlschutter Tonz syndrome
• Kok disease - See Hereditary hyperekplexia
• Komuragaeri Disease - See Satoyoshi syndrome
• Kônig disease - See Osteochondritis dissecans
• König disease - See Osteochondritis dissecans
• Koolen de Vries syndrome
• Koone Rizzo Elias syndrome
• Koro
• Koro syndrome - See Koro
• KOS - See Kaufman oculocerebrofacial syndrome
• Kossard disease - See Lichen planopilaris
• Kostmann disease - See Severe congenital neutropenia autosomal recessive 3
• Kosztolanyi syndrome
• Kotzot-Richter syndrome
• Kousseff Nichols syndrome
• Kousseff syndrome - See Sacral meningocele conotruncal heart defects
• Kowarski syndrome
• Kozlowski Brown Hardwick syndrome
• Kozlowski Ouvrier syndrome
• Kozlowski Rafinski Klicharska syndrome
• Kozlowski Warren Fisher syndrome
• Kozlowski-Krajewska syndrome
• KPC - See Keratoconus posticus circumscriptus
• Krabbe disease
• Krabbe disease atypical due to Saposin A deficiency
• Krabbe leukodystrophy - See Krabbe disease
• Kraepelin disease - See Presenile dementia, Kraepelin type
• Kramer syndrome - See Oculocerebral syndrome with hypopigmentation
• KRAS gene related Noonan syndrome - See Noonan syndrome
• Krasnow Qazi syndrome - See Cardiomyopathy cataract hip spine disease
• Krasnow Qazi Yermakov syndrome - See Cardiomyopathy cataract hip spine disease
• Krause-Kivlin syndrome - See Peters plus syndrome
• Krauss Herman Holmes syndrome
• Krieble Bixler syndrome
• KRPPD - See Parkinson disease type 9
• Krukenberg carcinoma
• Krukenberg tumor - See Krukenberg carcinoma
• Krukenberg’s tumor - See Krukenberg carcinoma
• KSHV - See Kaposi sarcoma
• KSHV inflammatory cytokine syndrome
• KSS - See Kearns-Sayre syndrome
• KTS - See Klippel-Trenaunay syndrome
• KTW syndrome - See Klippel-Trenaunay syndrome
• Kufor-Rakeb syndrome - See Parkinson disease type 9
• Kufs disease - See Adult neuronal ceroid lipofuscinosis
• Kuf's disease - See Adult neuronal ceroid lipofuscinosis
• Kuf's disease type B - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
• Kuf's disease, autosomal dominant - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
• Kugelberg-Welander syndrome - See Spinal muscular atrophy type 3
• Kurczynski-Casperson syndrome - See Auralcephalosyndactyly
• Kuru
• Kuskokwim disease
• Kuskokwim syndrome - See Kuskokwim disease
• Kuster Majewski Hammerstein syndrome
• Kuster syndrome
• Kuzniecky Andermann syndrome
• Kuzniecky syndrome - See Pachygyria-intellectual disability-epilepsy syndrome
• KWE - See Keratolytic winter erythema
• KWS - See Spinal muscular atrophy type 3
• KWWH type II - See Cardiomyopathy dilated with woolly hair and keratoderma
• Kyasanur Forest disease
• Kynureninase deficiency - See Hydroxykynureninuria
• Kyphomelic dysplasia
• Kyphoscoliotic EDS - See Kyphoscoliotic Ehlers-Danlos syndrome
• Kyphoscoliotic Ehlers-Danlos syndrome
• Kyphosis brachyphalangy optic atrophy - See Berk-Tabatznik syndrome
• Kyrle disease
• Kyrle's disease - See Kyrle disease