K
- KANSL1-Related Intellectual Disability Syndrome
- KAT6A Syndrome
- KBG syndrome
- KCNK9 imprinting syndrome
- KCNT1 related epilepsy
- KCNT1-related epilepsy
- Kabuki make-up syndrome
- Kabuki syndrome
- Kallmann syndrome
- Kallmann syndrome 1
- Kallmann syndrome 2
- Kallmann syndrome 3
- Kallmann syndrome, type 1, X-linked
- Kanzaki disease
- Kaplan Plauchu Fitch syndrome
- Kaposiform hemangioendothelioma
- Kapur Toriello syndrome
- Kartagener syndrome
- Kaufman oculocerebrofacial syndrome
- Kawasaki Disease
- Kawasaki syndrome
- Kearns Sayre syndrome
- Kearns-Sayre Syndrome
- Kennedy disease
- Kenny-Caffey syndrome type 1
- Kenny-Caffey syndrome type 2
- Keratitis, hereditary
- Keratitis-ichthyosis-deafness syndrome, autosomal dominant
- Keratoacanthoma
- Keratoconus
- Keratoconus posticus circumscriptus
- Keratoderma palmoplantar deafness
- Keratoderma palmoplantar spastic paralysis
- Keratoderma palmoplantaris transgrediens
- Keratoderma with Woolly Hair Type II
- Keratolytic winter erythema
- Keratomalacia
- Keratosis focal palmoplantar gingival
- Keratosis follicularis
- Keratosis follicularis dwarfism and cerebral atrophy
- Keratosis follicularis spinulosa decalvans
- Keratosis palmoplantaris adenocarcinoma of the colon
- Keratosis palmoplantaris papulosa
- Keratosis palmoplantaris striata 1
- Keratosis palmoplantaris striata 3
- Keratosis, seborrheic
- Kernicterus
- Keshan disease
- Ketoacidemia
- Ketotic glycinemia
- Ketotic hyperglycinemia
- Keutel syndrome