Rare Disease Library

Keratinopathic ichthyosis

KPI

Keratitis fugax hereditaria

KFH · Keratoendotheliitis fugax hereditaria

Keratocystic odontogenic tumor

KTOC · Odontogenic keratocystoma

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

Keratolytic winter erythema

Erythrokeratolysis hiemalis · Oudtshoorn disease

Keratosis follicularis spinulosa decalvans

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

Keratosis palmaris et plantaris-clinodactyly syndrome

Palmoplantar keratoderma-clinodactyly syndrome

Keratosis pilaris atrophicans

Kerion celsi

Ketamine-induced biliary dilatation

Ketoacidosis due to monocarboxylate transporter-1 deficiency

Keutel syndrome

Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Alkuraya-Kucinskas syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Kidney tubulopathy-dilated cardiomyopathy syndrome

Kienbock disease

Aseptic necrosis of the lunate bone · Lunatomalacia

Kikuchi-Fujimoto disease

Histiocytic necrotizing lymphadenitis · Kikuchi disease

Kimura disease

Eosinophilic lymphogranuloma

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

King-Denborough syndrome

Koussef-Nichols syndrome

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

Kleefstra syndrome

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Kleefstra syndrome due to a point mutation

Kleine-Levin syndrome

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

KLHL7-related Bohring-Opitz-like syndrome

KLHL7-related BOS-like syndrome

KLHL7-related Crisponi/cold-induced sweating-like syndrome

KLHL7-related Crisponi-like syndrome

KLHL9-related early-onset distal myopathy

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Klüver-Bucy syndrome

Kniest dysplasia

Knobloch syndrome

Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

Kommerell diverticulum

Koolen-De Vries syndrome

KdVS

Koolen-De Vries syndrome due to a point mutation

Kosaki overgrowth syndrome

Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

Kousseff syndrome

Sacral meningocele-conotruncal heart defects syndrome

Kozlowski-Brown-Hardwick syndrome

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

KRT1-related diffuse nonepidermolytic keratoderma

KRT1-related diffuse NEPPK

Kufor-Rakeb syndrome

PARK9

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome