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Disease Synonyms Description Articles Phenotypes
Kahrizi syndrome
intellectual disability, Kahrizi type; intellectua.. [+]
A syndrome that is characterized by mental retarda..[+]
Kallmann syndrome
familial hypogonadism with anosmia; Hypogonadism w.. [+]
A hypogonadotropic hypogonadism with a defective s..[+]
Kaposi's sarcoma
African lymphadenopathic Kaposi's sarcoma; anal Ka.. [+]
A connective tissue cancer that derives_from lymph..[+]
Kartagener syndrome
Kartagener's syndrome;
A primary ciliary dyskinesia that is characterized..[+]
Kaufman oculocerebrofacial syndrome
blepharophimosis ptosis intellectual disability sy.. [+]
A syndromic intellectual disability characterized ..[+]
Kawasaki disease
acute febrile MCLS; acute febrile mucocutaneous ly.. [+]
A lymphadenitis characterized by swelling of cervi..[+]
Kearns-Sayre syndrome
Kearns-Sayre syndrome (disorder);
n_a
Kennedy's disease
Kennedy disease; SBMA; spinal bulbar muscular atro.. [+]
A spinal muscular dystrophy that has_material_basi..[+]
Keshan disease
n_a
Kimura disease
Kimura's disease;
n_a
Kindler syndrome
hereditary acrokeratotic poikiloderma of Kindler-W.. [+]
A skin disease characterized by congenital blister..[+]
Klatskin's tumor
hilar cholangiocarcinoma; Klatskin tumor; Perihila.. [+]
n_a
Kleefstra Syndrome
9q subtelomeric deletion syndrome; 9q-syndrome; ch.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
Kleefstra syndrome
9q subtelomeric deletion syndrome; 9q-syndrome; 9q.. [+]
A syndrome characterized by childhood hypotonia, a..[+]
Kleine-Levin syndrome
A recurrent hypersomnia that is characterized by r..[+]
Klinefelter's syndrome
Hypogonadotropic Hypogonadism; Klinefelter syndrom.. [+]
n_a
Klippel-Feil syndrome
autosomal dominant Klippel-Feil syndrome; congenit.. [+]
A physical disorder that is characterized by abnor..[+]
Klippel-Feil syndrome 1
A Klippel-Feil syndrome that has_material_basis_in..[+]
Klippel-Feil syndrome 2
A Klippel-Feil syndrome that has_material_basis_in..[+]
Klippel-Trenaunay syndrome
angioosteohypertrophy syndrome; Haemangiectatic hy.. [+]
A syndrome that is characterized by large cutaneou..[+]
Kluver-Bucy syndrome
Klver-Bucy syndrome;
An impulse control disorder that involves abnormal..[+]
Kniest dysplasia
An osteochondrodysplasia that has_material_basis_i..[+]
Kohler's disease
Juvenile osteochondrosis of foot; Kohler disease;
An osteochondrosis that results_in death and colla..[+]
Kohlschutter-Tonz syndrome
amelocerebrohypohidrotic syndrome; epilepsy and ye.. [+]
A syndrome characterized by severe global developm..[+]
Koolen de Vries syndrome
17q21.31 microdeletion syndrome; KANSL1-related in.. [+]
A syndrome that is characterized by developmental ..[+]
Koolen-De Vries syndrome
chromosome 17q21.31 deletion syndrome; microdeleti.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
Korean hemorrhagic fever
A hemorrhagic fever with renal syndrome that resul..[+]
Krabbe disease
beta galactocerebrosidase deficiency; Diffuse glob.. [+]
n_a
Krukenberg carcinoma
Krukenberg neoplasm; Krukenberg tumor;
An ovary epithelial cancer that is a metastatic si..[+]
Kufor-Rakeb syndrome
autosomal recessive juvenile onset Parkinson disea.. [+]
A disease that is characterized by supranuclear ga..[+]
Kuhnt-Junius degeneration
Exudative senile macular degeneration of retina; N.. [+]
n_a
Kummell's disease
Kummell disease; Kummell's spondylitis; Traumatic .. [+]
n_a
Kunjin encephalitis
A West Nile encephalitis that results_in infection..[+]
Kyasanur forest disease
A viral infectious disease that is a hemorrhagic f..[+]
L-2-hydroxyglutaric aciduria
L-2-HYDROXYGLUTARIC ACIDEMIA;
An 2-hydroxyglutaric aciduria that involves damage..[+]
L-cell glucagon-like peptide producing tumor
n_a
LADD syndrome
lacrimoauriculodentodigital syndrome; LEVY-HOLLIST.. [+]
An autosomal dominant disease that is characterize..[+]
LEOPARD syndrome
Capute-Rimoin-Konigsmark-Esterly-Richardson syndro.. [+]
n_a
La Crosse encephalitis
California Encephalitis; California virus encephal.. [+]
A viral infectious disease that results_in inflamm..[+]
Lafora disease
Lafora Progressive Myoclonic Epilepsy; Lafora's di.. [+]
n_a
Lambert-Eaton myasthenic syndrome
Eaton-Lambert syndrome; Lambert-Eaton syndrome; LE.. [+]
A neuromuscular junction disease that is character..[+]
Landau-Kleffner syndrome
acquired epileptic aphasia;
A childhood electroclinical syndrome that is chara..[+]
Langerhans cell sarcoma
A histiocytic and dendritic cell cancer that deriv..[+]
Langerhans-cell histiocytosis
Histiocytosis X; Langerhan's cell histiocytosis (d.. [+]
A histiocytosis that is characterized by clonal pr..[+]
Laron syndrome
Laron-type isolated somatotropin defect (disorder).. [+]
n_a
Larsen syndrome
dominant larsen syndrome;
An autosomal dominant disease that is characterize..[+]
Lassa fever
A viral infectious disease that results_in infecti..[+]
Laurence-Moon syndrome
Laurence-Moon-Biedl syndrome;
n_a
Leber congenital amaurosis
LCA; Leber's amaurosis; Leber's congenital amauros.. [+]
A retinal disease that is characterized by nystagm..[+]
Leber congenital amaurosis 1
amaurosis congenita of Leber I; LCA1;
A Leber congenital amaurosis characterized by seve..[+]

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