- 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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