J-K | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

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

• Jabs syndrome - See Blau syndrome
• Jackhammer esophagus
• Jackson Barr syndrome - See Deafness conductive ptosis skeletal anomalies
• Jackson-Weiss syndrome
• Jacobs syndrome - See 47, XYY syndrome
• Jacobs syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Jacobsen syndrome
• Jadassohn nevus phakomatosis - See Linear nevus sebaceous syndrome
• Jadassohn-Tièche nevus - See Tièche-Jadassohn nevus
• Jadassohn-Tièche syndrome - See Tièche-Jadassohn nevus
• JAE - See Epilepsy juvenile absence
• Jaeken syndrome - See PMM2-CDG (CDG-Ia)
• Jaffe Campanacci syndrome - See Fibromatosis multiple non ossifying
• Jaffe-Campanacci syndrome - See Osteofibrous dysplasia
• Jaffer Beighton syndrome
• Jagell Holmgren Hofer syndrome - See Ichthyosis alopecia eclabion ectropion mental retardation
• Jail fever - See Typhus
• Jalili syndrome - See Cone-rod dystrophy amelogenesis imperfecta
• JALS - See Juvenile amyotrophic lateral sclerosis
• Jamaican vomiting sickness
• Jancar syndrome - See Intellectual disability-spasticity-ectrodactyly syndrome
• Jankovic Rivera syndrome
• Jansen type metaphyseal chondrodysplasia
• Jansky-Bielschowsky disease - See Neuronal ceroid lipofuscinosis 2
• Janz syndrome - See Juvenile myoclonic epilepsy
• Japanese encephalitis
• Japanese type spondylometaphyseal dysplasia - See Spondylometaphyseal dysplasia Algerian type
• Jarcho-Levin syndrome - See Spondylothoracic dysostosis
• JATD - See Jeune syndrome
• Jaw-winking - See Marcus Gunn phenomenon
• JBS - See Jacobsen syndrome
• JBS - See Johanson-Blizzard syndrome
• JBTS1 - See Joubert syndrome
• JBTS2 - See Joubert syndrome 2
• JBTS3 - See Joubert syndrome with ocular anomalies
• JBTS4 - See Joubert syndrome with renal anomalies
• JDM - See Juvenile dermatomyositis
• JE - See Japanese encephalitis
• JEB - See Junctional epidermolysis bullosa
• JEB generalized intermediate - See Epidermolysis bullosa
• JEB, generalized intermediate - See Junctional epidermolysis bullosa
• JEB-H - See Epidermolysis bullosa
• JEB-Herlitz type - See Epidermolysis bullosa
• JEB-I - See Epidermolysis bullosa
• JEB-lo - See Junctional epidermolysis bullosa
• JEB-nH - See Epidermolysis bullosa
• JEB-nH gen - See Junctional epidermolysis bullosa
• JEB-nH loc - See Junctional epidermolysis bullosa
• JEB-PA - See Epidermolysis bullosa
• Jejunal atresia
• Jejunal atresia with renal adysplasia
• Jejunoileal atresia - See Jejunal atresia
• JEN-nH - See Epidermolysis bullosa
• Jequier Kozlowski skeletal dysplasia - See Spondylometaphyseal dysplasia, Kozlowski type
• Jequier-Kozlowski syndrome - See Spondylometaphyseal dysplasia, Kozlowski type
• Jervell and Lange-Nielsen syndrome 2
• Jervell Lange-Nielsen syndrome
• Jessner disease - See Lymphocytic infiltrate of Jessner
• Jessner-Kanof syndrome - See Lymphocytic infiltrate of Jessner
• Jeune asphyxiating thoracic dystrophy - See Jeune syndrome
• Jeune syndrome
• Jeune syndrome situs inversus
• Jeune's syndrome - See Jeune syndrome
• JGCA - See Juvenile temporal arteritis
• JHD - See Juvenile Huntington disease
• JHS - See Juberg-Hayward syndrome
• JIP - See Juvenile polyposis syndrome
• JLNS1 - See Jervell Lange-Nielsen syndrome
• JLNS2 - See Jervell and Lange-Nielsen syndrome 2
• JME - See Juvenile myoclonic epilepsy
• JMML - See Juvenile myelomonocytic leukemia
• JMP syndrome
• JMS - See Juberg Marsidi syndrome
• JNP - See Linear nevus sebaceous syndrome
• JOAG1 - See Primary open angle glaucoma juvenile onset 1
• Job syndrome autosomal dominant - See Autosomal dominant hyper IgE syndrome
• Johanson-Blizzard syndrome
• Johnson Munson syndrome
• Johnson neuroectodermal syndrome
• Johnson-Mcmillin syndrome - See Johnson neuroectodermal syndrome
• Johnston Aarons Schelley syndrome
• Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy - See JMP syndrome
• Joint contractures with other abnormalities - See Hydrocephalus-cleft palate-joint contractures syndrome
• Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns - See Johnston Aarons Schelley syndrome
• Joint instability syndrome - See Familial joint instability syndrome
• Joint laxity, Familial - See Familial joint instability syndrome
• Joint replacement infection - See Prosthetic joint infection
• Jones Hersh Yusk syndrome
• Jones syndrome
• Jonston's Alopecia - See Alopecia areata - not a rare disease
• Jorgenson Lenz syndrome
• JORRP (type) - See Recurrent respiratory papillomatosis
• JOSeFINE - See Juvenile-onset small-fiber polyneuropathy
• Joubert syndrome
• Joubert syndrome 1 - See Joubert syndrome
• Joubert syndrome 2
• Joubert syndrome 3 - See Joubert syndrome with ocular anomalies
• Joubert syndrome 4 - See Joubert syndrome with renal anomalies
• Joubert syndrome 5 - See Joubert syndrome with oculorenal anomalies
• Joubert syndrome with bilateral chorioretinal coloboma - See Joubert syndrome with oculorenal anomalies
• Joubert syndrome with congenital hepatic fibrosis - See COACH syndrome
• Joubert syndrome with hepatic defect - See COACH syndrome
• Joubert syndrome with ocular anomalies
• Joubert syndrome with oculorenal anomalies
• Joubert syndrome with oculorenal defect - See Joubert syndrome with oculorenal anomalies
• Joubert syndrome with orofaciodigital defect - See Orofaciodigital syndrome 6
• Joubert syndrome with renal anomalies
• Joubert syndrome with Senior-Loken syndrome - See Joubert syndrome with oculorenal anomalies
• Joubert-Boltshauser syndrome - See Joubert syndrome
• JP - See Autosomal recessive juvenile Parkinson disease
• JPD - See Juvenile Paget disease
• JPG - See Juvenile Paget disease
• JPLS - See Juvenile primary lateral sclerosis
• JPM - See Juvenile dermatomyositis
• JPMR - See Juvenile temporal arteritis
• JPS - See Juvenile polyposis syndrome
• JS type B - See Joubert syndrome with oculorenal anomalies
• JS-H - See COACH syndrome
• JS-OR - See Joubert syndrome with oculorenal anomalies
• Juberg Marsidi syndrome
• Juberg-Hayward syndrome
• Juberg-Hellman syndrome - See PCDH19-related female-limited epilepsy
• Juberg-Marsidi Intellectual disability syndrome - See Juberg Marsidi syndrome
• Juberg-Marsidi syndrome - See Juberg Marsidi syndrome
• Judge Misch Wright syndrome
• Jugular lymphatic obstruction sequence - See Hygroma cervical
• Jumping Frenchmen of Maine
• Junctional epidermolysis bullosa
• Junctional epidermolysis bullosa - pyloric atresia - See Epidermolysis bullosa
• Junctional epidermolysis bullosa generalisata gravis - See Epidermolysis bullosa
• Junctional epidermolysis bullosa generalisata mitis - See Junctional epidermolysis bullosa
• Junctional epidermolysis bullosa generalized intermediate - See Epidermolysis bullosa
• Junctional epidermolysis bullosa inversa - See Epidermolysis bullosa
• Junctional epidermolysis bullosa with pyloric atresia - See Epidermolysis bullosa
• Junctional epidermolysis bullosa, Disentis type - See Junctional epidermolysis bullosa
• Junctional epidermolysis bullosa, generalized intermediate - See Junctional epidermolysis bullosa
• Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa
• Junctional epidermolysis bullosa, non-Herlitz type - See Epidermolysis bullosa
• Jung Wolff Back Stahl syndrome
• Juvenile absence epilepsy - See Epilepsy juvenile absence
• Juvenile amyotrophic lateral sclerosis
• Juvenile arthritis - See Juvenile idiopathic arthritis - not a rare disease
• Juvenile breast cancer (formerly) - See Secretory breast carcinoma
• Juvenile breast carcinoma (formerly) - See Secretory breast carcinoma
• Juvenile cataract, cerebellar atrophy, mental retardation, and myopathy - See Marinesco-Sjogren-like syndrome (MSLS)
• Juvenile Charcot disease - See Juvenile amyotrophic lateral sclerosis
• Juvenile chronic arthritis - See Juvenile idiopathic arthritis - not a rare disease
• Juvenile cranial arteritis - See Juvenile temporal arteritis
• Juvenile dermatomyositis
• Juvenile enthesitis-related arthritis - See Enthesitis-related juvenile idiopathic arthritis
• Juvenile giant cell arteritis - See Juvenile temporal arteritis
• Juvenile gigantomastia (subtype) - See Gigantomastia
• Juvenile glaucoma with unusual upper lip and dental roots - See Pyramidal molars-abnormal upper lip syndrome
• Juvenile hemochromatosis - See Hemochromatosis type 2
• Juvenile hereditary epithelial dystrophy - See Meesmann corneal dystrophy
• Juvenile hereditary hemochromatosis - See Hemochromatosis type 2
• Juvenile Huntington disease
• Juvenile hyaline fibromatosis (former subtype) - See Hyaline fibromatosis syndrome
• Juvenile idiopathic arthritis - not a rare disease
• Juvenile intestinal polyposis - See Juvenile polyposis syndrome
• Juvenile kyphosis - See Scheuermann disease
• Juvenile laryngeal papilloma - See Recurrent respiratory papillomatosis
• Juvenile laryngeal papillomatosis (subtype) - See Laryngeal papillomatosis
• Juvenile Lou Gehrig disease - See Juvenile amyotrophic lateral sclerosis
• Juvenile macular degeneration and hypotrichosis
• Juvenile macular dystrophy and congenital hypotrichosis - See Juvenile macular degeneration and hypotrichosis
• Juvenile muscular atrophy of distal upper extremity (JMADUE) - See Monomelic amyotrophy
• Juvenile muscular atrophy of distal upper limb - See Monomelic amyotrophy
• Juvenile myelomonocytic leukemia
• Juvenile myoclonic epilepsy
• Juvenile myositis - See Juvenile dermatomyositis
• Juvenile nephronophthisis with Leber amaurosis - See Senior Loken Syndrome
• Juvenile neuronal ceroid lipofuscinosis - See Neuronal ceroid lipofuscinosis 3
• Juvenile onset HD - See Juvenile Huntington disease
• Juvenile onset macular degeneration - See Stargardt disease
• Juvenile onset pernicious anemia - See Pernicious anemia - not a rare disease
• Juvenile ossifying fibroma
• Juvenile osteoporosis
• Juvenile Paget disease
• Juvenile Pagets disease - See Juvenile Paget disease
• Juvenile parkinsonism - See Autosomal recessive juvenile Parkinson disease
• Juvenile pilocytic astrocytoma - See Pilocytic astrocytoma
• Juvenile PM - See Juvenile polymyositis
• Juvenile polyarthritis rheumatoid factor negative - See Polyarticular onset juvenile idiopathic arthritis
• Juvenile polyarthritis rheumatoid factor positive - See Polyarticular onset juvenile idiopathic arthritis
• Juvenile polymyalgia rheumatica - See Juvenile temporal arteritis
• Juvenile polymyositis
• Juvenile polyposis syndrome
• Juvenile primary lateral sclerosis
• Juvenile psoriatic arthritis - See Psoriatic juvenile idiopathic arthritis
• Juvenile retinoschisis
• Juvenile rheumatoid arthritis - See Juvenile idiopathic arthritis - not a rare disease
• Juvenile spondylarthropathy - See Enthesitis-related juvenile idiopathic arthritis
• Juvenile spondyloarthropathy
• Juvenile sulfatidosis - See Multiple sulfatase deficiency
• Juvenile temporal arteritis
• Juvenile-onset diabetes - See Diabetes mellitus type 1 - not a rare disease
• Juvenile-onset dystonia
• Juvenile-onset recurrent respiratory papillomatosis (type) - See Recurrent respiratory papillomatosis
• Juvenile-onset small-fiber polyneuropathy
• Juvenile-onset vitelliform macular dystrophy - See Best vitelliform macular dystrophy
• Juxtafoveal retinal telangiectasia type 2 - See Macular telangiectasia type 2 - not a rare disease
• JWS - See Jackson-Weiss syndrome

• 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
• Kaposiform lymphangiomatosis
• 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
• kEDS-PLOD1 - 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, 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 Epidermolytic palmoplantar keratoderma
• Keratosis palmaris et plantaris with esophageal cancer - See Tylosis with esophageal cancer
• Keratosis palmoplantar - periodontopathy - See Papillon Lefevre syndrome
• 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 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 Essential 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
• 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
• Knobloch-Layer syndrome - See 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 Malignant Atrophic Papulosis
• Köhlmeier-Degos disease - See Malignant Atrophic Papulosis
• Köhlmeier-Degos-Delort-Tricort syndrome - See Malignant Atrophic Papulosis
• 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 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 EDS due to lysyl hydroxylase 1 deficiency - See Kyphoscoliotic Ehlers-Danlos syndrome
• Kyphoscoliotic Ehlers-Danlos syndrome
• Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - See Kyphoscoliotic Ehlers-Danlos syndrome
• Kyphosis brachyphalangy optic atrophy - See Berk-Tabatznik syndrome
• Kyrle disease
• Kyrle's disease - See Kyrle disease