Genetic diseases-K
- Kabuki make-up syndrome see Kabuki syndrome
- Kabuki makeup syndrome see Kabuki syndrome
- Kabuki syndrome
- Kahler disease see Multiple myeloma
- Kahler's disease see Multiple myeloma
- Kahler-Bozzolo disease see Multiple myeloma
- Kallman's syndrome see Kallmann syndrome
- Kallmann syndrome
- KANSL1-related intellectual disability syndrome see Koolen-de Vries syndrome
- Kanzaki disease see Schindler disease
- Kast syndrome see Maffucci syndrome
- Kaufman oculocerebrofacial syndrome
- Kaufman-McKusick syndrome see McKusick-Kaufman syndrome
- Kawasaki disease
- Kawasaki syndrome see Kawasaki disease
- KBG syndrome
- KC see Keratoconus
- KCNK9 imprinting syndrome
- KD see Spinal and bulbar muscular atrophy
- KD see Kawasaki disease
- KDVS see Koolen-de Vries syndrome
- Kearns-Sayre mitochondrial cytopathy see Kearns-Sayre syndrome
- Kearns-Sayre syndrome
- Keller syndrome see FG syndrome
- Kennedy disease see Spinal and bulbar muscular atrophy
- Kennedy spinal and bulbar muscular atrophy see Spinal and bulbar muscular atrophy
- Kennedy's disease see Spinal and bulbar muscular atrophy
- kerasin histiocytosis see Gaucher disease
- kerasin lipoidosis see Gaucher disease
- kerasin thesaurismosis see Gaucher disease
- keratitis, ichthyosis, and deafness see Keratitis-ichthyosis-deafness syndrome
- Keratitis-ichthyosis-deafness syndrome
- keratoconjunctivitis sicca see Sjögren syndrome
- keratoconjunctivitis sicca-xerostomia see Sjögren syndrome
- Keratoconus
- keratoderma hereditarium mutilans see Vohwinkel syndrome
- Keratoderma with woolly hair
- Keratosis Follicularis see Darier disease
- keratosis palmoplantaris transgrediens of Siemens see Mal de Meleda
- ketoacidemia see Maple syrup urine disease
- ketoacidosis due to SCOT deficiency see Succinyl-CoA:3-ketoacid CoA transferase deficiency
- ketotic glycinemia see Propionic acidemia
- ketotic hyperglycinemia see Propionic acidemia
- KFS see Klippel-Feil syndrome
- KHM see Vohwinkel syndrome
- KID syndrome see Keratitis-ichthyosis-deafness syndrome
- kidney calculi see Kidney stones
- kidney stone see Kidney stones
- Kidney stones
- kidney Wilms tumor see Wilms tumor
- kidney, adenomyosarcoma, embryonal see Wilms tumor
- kidney, carcinosarcoma, embryonal see Wilms tumor
- kidney, embryoma see Wilms tumor
- kidney, embryonal mixed tumor see Wilms tumor
- Kindler syndrome
- Kindler's syndrome see Kindler syndrome
- Kinky Hair Syndrome see Menkes syndrome
- Kjellin syndrome see Spastic paraplegia type 15
- Kjer type optic atrophy see Optic atrophy type 1
- Kjer's optic atrophy see Optic atrophy type 1
- Kleefstra syndrome
- Klinefelter syndrome
- Klinefelter syndrome (KS) see Klinefelter syndrome
- Klinefelter's syndrome see Klinefelter syndrome
- Klippel-Feil deformity see Klippel-Feil syndrome
- Klippel-Feil sequence see Klippel-Feil syndrome
- Klippel-Feil syndrome
- Klippel-Trenaunay disease see Klippel-Trenaunay syndrome
- Klippel-Trenaunay syndrome
- KMS see Kabuki syndrome
- Kniest chondrodystrophy see Kniest dysplasia
- Kniest dysplasia
- Kniest syndrome see Kniest dysplasia
- Knobloch syndrome
- knuckle pads, deafness, and leukonychia syndrome see Bart-Pumphrey syndrome
- knuckle pads, leukonychia, and sensorineural deafness see Bart-Pumphrey syndrome
- Kobberling-Dunnigan syndrome see Familial partial lipodystrophy
- Koolen syndrome see Koolen-de Vries syndrome
- Koolen-de Vries syndrome
- KOS see Kaufman oculocerebrofacial syndrome
- Kostmann disease see Severe congenital neutropenia
- Kostmann's agranulocytosis see Severe congenital neutropenia
- Kostmann's syndrome see Severe congenital neutropenia
- Krabbe disease
- Krause-Kivlin syndrome see Peters plus syndrome
- Krause-van Schooneveld-Kivlin syndrome see Peters plus syndrome
- KSS see Kearns-Sayre syndrome
- KTS see Klippel-Trenaunay syndrome
- Kugelberg-Welander syndrome, autosomal dominant see Spinal muscular atrophy with lower extremity predominance
- Kuskokwim disease see Kuskokwim syndrome
- Kuskokwim syndrome
- KWWH see Keratoderma with woolly hair
- Kymenlaakso syndrome see Lattice corneal dystrophy type II
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