Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Kabuki Syndrome

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

* También disponible en español

NORD Rare Disease Report
Kallmann Syndrome

Also known as: idiopathic hypogonadotropic hypogonadism with anosmia

NORD Rare Disease Report
Kasabach-Merritt Phenomenon

Also known as: KMP Vascular tumor with thrombocytopenia and/or hypofibrinogenemia

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NORD Rare Disease Report
Kawasaki Disease

Also known as: Kawasaki Syndrome MLNS Mucocutaneous Lymph Node Syndrome

NORD Rare Disease Report
KBG Syndrome

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

NORD Rare Disease Report
KCNB1 Encephalopathy

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

NORD Rare Disease Report
KCNK9 Imprinting Syndrome

Also known as: Birk-Barel syndrome Birk-Barel intellectual disability dysmorphism syndrome

NORD Rare Disease Report
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)

NORD Rare Disease Report
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

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NORD Rare Disease Report
Kenny-Caffey Syndrome

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

NORD Rare Disease Report
Keratoconus

Also known as: conical cornea KC KCN

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