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220 Result(s)
- K+-aggravated myotonia
- K-aggravated myotonia
- KABAMAS
- Kabuki make-up syndrome
- Kabuki syndrome
- Kaeser syndrome
- Kagami-Ogata syndrome
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Kahler disease
- Kaler-Garrity-Stern syndrome
- Kallin syndrome
- Kallmann syndrome
- Kallmann syndrome-heart disease syndrome
- Kandori fleck retina
- Kantaputra mesomelic dysplasia
- Kanzaki disease
- Kaplan-Plauchu-Fitch syndrome
- Kaposi sarcoma
- Kaposiform hemangioendothelioma
- Kaposiform lymphangiomatosis
- Kappa-chain deficiency
- Kapur-Toriello syndrome
- Karandikar-Maria-Kamble syndrome
- Karsch-Neugebauer syndrome
- Karyomegalic interstitial nephritis
- Kasabach-Merritt phenomenon
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- KAT6A syndrome
- KAT6B-related disorder
- KAT6B-related multiple congenital anomalies syndrome
- Kaufman-Mckusick syndrome
- Kawasaki disease
- Kawashima syndrome
- Kawashima-Tsuji syndrome
- Kaya-Barakat-Masson syndrome
- Kaya-Prontera syndrome
- KBG syndrome
- KCNK9 imprinting syndrome
- KCNQ2-DEE
- KCNQ2-related developmental and epileptic encephalopathy
- KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
- KDM5C-related syndromic X-linked intellectual disability
- KdVS
- Kearns-Sayre syndrome
- Keasby tumor
- kEDS
- kEDS-FKBP14
- kEDS-PLOD1
- Keipert syndrome
- Kelley-Seegmiller syndrome
- Kelly-Paterson syndrome
- Kennedy disease
- Kennedy-Teebi syndrome
- Kenny syndrome
- Kenny-Caffey syndrome
- Keppen-Lubinsky syndrome
- Keratinopathic ichthyosis
- Keratitis fugax hereditaria
- Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
- Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
- Keratocystic odontogenic tumor
- Keratoderma hereditarium mutilans
- Keratoderma hereditarium mutilans with ichthyosis
- Keratoderma with woolly hair type I
- Keratoderma with woolly hair type II
- Keratoderma with woolly hair type IV
- Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
- Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
- Keratoendotheliitis fugax hereditaria
- Keratolytic winter erythema
- Keratomycosis
- Keratosis exfoliativa congenita
- Keratosis extremitatum hereditaria progrediens
- Keratosis follicularis
- Keratosis follicularis spinulosa decalvans
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
- Keratosis palmaris et plantaris-clinodactyly syndrome
- Keratosis palmoplantar-periodontopathy syndrome
- Keratosis palmoplantaris nummularis
- Keratosis palmoplantaris striata
- Keratosis palmoplantaris striata et areata
- Keratosis palmoplantaris transgrediens et progrediens
- Keratosis palmoplantaris varians of Wachters
- Keratosis palmoplantaris with arrythmogenic cardiomyopathy
- Keratosis palmoplantaris-corneal dystrophy syndrome
- Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
- Keratosis palmoplantaris-esophageal carcinoma syndrome
- Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
- Keratosis pilaris atrophicans
- Kerion celsi
- Kernicterus
- Kernicterus spectrum disorder
- Kersey syndrome
- Ketamine-induced biliary dilatation
- Ketoacidosis due to monocarboxylate transporter-1 deficiency
- Ketoaciduria-intellectual disability-ataxia-deafness syndrome
- Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
- Ketohexokinase deficiency
- Ketotic hyperglycinemia
- Keutel syndrome
- KFH
- Khalifa-Graham syndrome
- Ki-1 positive anaplastic large cell lymphoma
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
- KID syndrome
- KID/HID syndrome
- Kidney dysplasia
- Kidney dysplasia, bilateral
- Kidney dysplasia, unilateral
- Kidney tubulopathy-dilated cardiomyopathy syndrome
- Kienbock disease
- Kikuchi disease
- Kikuchi-Fujimoto disease
- Kilquist syndrome
- Kimura disease
- KIN
- Kindler epidermolysis bullosa
- Kindler syndrome
- King-Denborough syndrome
- Kinsbourne syndrome
- Kjellin syndrome
- Kjer optic atrophy
- Klatskin tumor
- Kleefstra syndrome
- Kleefstra syndrome due to 9q subtelomeric deletion
- Kleefstra syndrome due to 9q34 microdeletion
- Kleefstra syndrome due to a point mutation
- Kleefstra syndrome due to del(9)(q34)
- Kleefstra syndrome due to monosomy 9q34
- Klein-Waardenburg syndrome
- Kleine-Levin syndrome
- Kleiner-Holmes syndrome
- KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
- KLHL7-related Bohring-Opitz-like syndrome
- KLHL7-related BOS-like syndrome
- KLHL7-related Crisponi-like syndrome
- KLHL7-related Crisponi/cold-induced sweating-like syndrome
- KLHL9-related early-onset distal myopathy
- KLICK syndrome
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
- Klippel-Feil malformation
- Klippel-Feil sequence
- Klippel-Trénaunay syndrome
- Klippel-Trénaunay-Weber syndrome
- Klüver-Bucy syndrome
- KMT2B-related dystonia
- KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- KMT5B haploinsufficiency neurodevelopmental disorder
- Kniest dysplasia
- Knobloch syndrome
- Knobloch-Layer syndrome
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
- Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome
- Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
- Kocher-Debré-Semelaigne syndrome
- Kohler disease
- Kohlschütter-Tönz syndrome
- Kok disease
- Kommerell diverticulum
- Komuragaeri disease
- Koolen-De Vries syndrome
- Koolen-De Vries syndrome due to a point mutation
- Kopysc-Barczyk-Krol syndrome
- KOS
- Kosaki overgrowth syndrome
- Kosenow syndrome
- Kostmann syndrome
- Kosztolanyi syndrome
- Koussef-Nichols syndrome
- Kousseff syndrome
- Kowarski syndrome
- Kozlowski-Krajewska syndrome
- Kozlowski-Tsuruta syndrome
- KPI
- Krabbe disease
- Krabbe disease, classic form
- Krabbe disease, early-onset
- Krabbe disease, late-onset
- Krasnow-Qazi syndrome
- Krause-Kivlin syndrome
- Krause-van Schooneveld-Kivlin syndrome
- Krebs cycle disorder
- Kreiborg-Pakistani syndrome
- KRT1-related diffuse NEPPK
- KRT1-related diffuse nonepidermolytic keratoderma
- KSD
- KTCNCT
- KTOC
- Kufor-Rakeb syndrome
- Kufs type B disease
- Kugelberg-Welander disease
- Kunze-Riehm syndrome
- Kuru
- Kuskokwim disease
- Kuskokwim syndrome
- Kuzniecky syndrome
- KWWH type I
- KWWH type II
- KWWH type IV
- Kyasanur forest disease
- Kyasanur hemorrhagic fever
- Kynureninase deficiency
- Kyphomelic dysplasia
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
- Kyphoscoliotic EDS
- Kyphoscoliotic EDS due to FKBP22 deficiency
- Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
- Kyphoscoliotic Ehlers-Danlos syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
- Köhlmeier-Degos disease
- König disease
- Küssmaul-Maier disease
- Küttner tumor