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Rare Disease Database

Search Results for: K

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Kabuki Syndrome

Also known as: Kabuki makeup syndrome, KMS, Niikawa-Kuroki syndrome

Kallmann Syndrome

Also known as: idiopathic hypogonadotropic hypogonadism with anosmia

Kawasaki Disease

Also known as: Kawasaki Syndrome, MLNS, Mucocutaneous Lymph Node Syndrome

KBG Syndrome

Also known as: short stature, facial/skeletal anomalies-retardation-macrodontia

KCNB1 Encephalopathy

Also known as: early infantile epileptic encephalopathy (EIEE26), KCNB1-related epilepsy

KCNQ2 Encephalopathy

Also known as: KCNQ2E, KCNQ2-related neonatal epileptic encephalopathy (KCNQ2-NEE), Early infantile epileptic encephalopathy (EIEE7)

Kearns Sayre Syndrome

Also known as: chronic progressive external ophthalmoplegia and myopathy, chronic progressive external ophthalmoplegia with ragged red fibers, CPEO with myopathy, CPEO with ragged red fibers, KSS, mitochondrial cytopathy, occulocraniosomatic syndrome (obsolete), ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy, ophthalmoplegia plus syndrome, single large-scale mtDNA deletion syndrome (SLSMDS)

Kennedy Disease

Also known as: KD, Kennedy's syndrome, SBMA, spinal and bulbar muscular atrophy, spinal bulbar muscular atrophy, X-linked spinal and bulbar muscular atrophy, X-linked spinal bulbar muscular atrophy, spinobulbar muscular atrophy, X-linked spinobulbar muscular atrophy

Kenny-Caffey Syndrome

Also known as: dwarfism, cortical thickening of tubular bones & transient hypocalcemia, KCS2, Kenny-Caffey syndrome, dominant type

Keratolytic Winter Erythema

Also known as: erythrokeratolysis hiemalis, keratolytic winter erythema ichthyosis, Oudtshoorn skin, winter erythrokeratolysis, KWE

Keratosis Follicularis

Also known as: Darier disease, Darier-White disease, dyskeratosis follicularis
Subdivisions: No subdivisions found

Kikuchi’s Disease

Also known as: Histiocytic Necrotizing Lymphadenitis, HNL, Kikuchi-Fujimoto Disease, Kikuchi's Histiocytic Necrotizing Lymphadenitis, Necrotizing Lymphadenitis

Kleine-Levin Syndrome

Also known as: Familial Hibernation Syndrome, Kleine-Levin Hibernation Syndrome, Periodic Somnolence and Morbid Hunger

Klippel-Feil Syndrome

Also known as: cervical vertebral fusion, congenital cervical synostosis, isolated Klippel-Feil syndrome, Klippel-Feil anomaly , KFS
Subdivisions: Klippel-Feil syndrome, type I, Klippel-Feil syndrome, type II, Klippel-Feil syndrome, type III

Kniest Dysplasia

Also known as: Kniest chondrodystrophy, Kniest Syndrome, Metatropic dwarfism, type II, Metatropic dysplasia, type II, Swiss Cheese Cartilage Syndrome

Kohler Disease

Also known as: Kohler's Disease of the tarsal navicular, Kohler's osteochondrosis of the tarsal navicular, navicular osteochondrosis

Kufor Rakeb Syndrome

Also known as: KRS, Kufor Rakeb disease, autosomal recessive, juvenile onset Parkinson’s disease 9, Parkinson’s disease 9, pallidopyramidal degeneration with supranuclear upgaze paresis and dementia