Diseases associated to hPSCreg cell lines

  1. 47,XXX Syndrome 47,xxx, 47,xxx syndrome, triple x syndrome, trisomy x

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    A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language.

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  2. 4H leukodystrophy polr-related leukodystrophy

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    A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.

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  3. 7q11.23 microduplication syndrome

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  4. aceruloplasminemia

    An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

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  5. Achromatopsia achm, complete or incomplete color blindness, pingelapese blindness, rod monochromacy, rod monochromatism, total color blindness

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    A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

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  6. Acromesomelic dysplasia

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  7. Activated PI3K-delta syndrome apds, senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation

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    A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and [...]

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  8. Acute lymphoblastic leukemia acute lymphatic leukaemia, acute lymphatic leukemia, acute lymphoblastic leukaemia, acute lymphocytic leukaemia, acute lymphocytic leukemia, acute lymphoid leukaemia, acute lymphoid leukemia

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    A form of acute leukemia characterized by excess lympoblasts.

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  9. Acute myeloid leukemia acute myeloblastic leukaemia, acute myeloblastic leukemia, acute myelocytic leukaemia, acute myelocytic leukemia, acute myelogenous leukaemia, acute myelogenous leukemia, acute myeloid leukaemia, aml

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    A form of leukemia characterized by overproduction of an early myeloid cell.

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  10. acute promyelocytic leukemia acute myeloblastic leukemia 3, acute myeloblastic leukemia type 3, acute myeloid leukemia m3, acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute promyelocytic leukemia, acute promyelocytic leukemia with pml-rara, acute promyelocytic leukemia with t(15;17)(q22;q12); pml-rara, acute promyelocytic leukemia with t(15;17)(q22;q12); pml/rara, aml m3, aml with t(15;17)(q22;q12), aml with t(15;17)(q22;q12);(pml/raralpha) and variants, apl, apml, apml - acute promyelocytic leukemia, fab m3, leukemia, acute promyelocytic, somatic, promyelocytic leukemia

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    An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.; Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to [...]

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  11. ADNP syndrome adnp-related syndromic intellectual disability-autism spectrum disorder, helsmoortel-van der aa syndrome, hvdas

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    A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.

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  12. adrenoleukodystrophy

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  13. Adrenoleukodystrophy adrenoleukodystrophy, schilder disease

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    A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.

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  14. adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

    A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.

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  15. African Swine Fever Virus

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  16. age-related macular degeneration

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  17. Age-Related Macular Degeneration age-related macular degeneration, amd, armd

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    Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.

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  18. age-related macular degeneration aamd - age related macular degeneration, age relat maculopathies, age relat maculopathy, age related macular degeneration, age related macular degeneration (disorder) [ambiguous], age related maculopathies, age related maculopathy, age-related macular degeneration, age-related macular degeneration (disorder), age-related macular degenerations, age-related maculopathies, age-related maculopathy, amd, amd - age-related macular degeneration, amended, armd, armd - age-related macular degeneration, degeneration, age-related macular, degeneration, macular, degenerations, age-related macular, degenerations, macular, dystrophies, macular, dystrophy, macular, macular degeneration, macular degeneration (disorder), macular degeneration (senile) of retina, unspecified, macular degeneration nos, macular degeneration, age-related, macular degenerations, macular degenerations, age-related, macular dystrophies, macular dystrophy, maculopathies age relat, maculopathies, age related, maculopathies, age-related, maculopathy age relat, maculopathy, age related, maculopathy, age-related, senile macular degeneration, senile macular degeneration of retina, senile macular retinal degeneration, smd - senile macular degeneration, unspecified senile macular degeneration

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    Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.; Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.; Degenerative changes in the macula lutea of the retina.

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  19. Allan-Herndon-Dudley Syndrome allan-herndon-dudley syndrome, mct8-specific thyroid hormone cell membrane transporter deficiency, monocarboxylate transporter 8 deficiency

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    A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity.

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  20. alpha thalassemia

    Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

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  21. Alpha-1 Antitrypsin Deficiency a-1atd, a1ad, alpha 1-antitrypsin disease, alpha-1 antitrypsin, alpha-1 antitrypsin deficiency, alpha-1-antitrypsin deficiency

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    A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.

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  22. Alpha-1-antitrypsin deficiency alpha-1-proteinase inhibitor deficiency, alpha1-antitrypsin deficiency

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    A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.

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  23. Alport Syndrome alport syndrome, alport's syndrome, hereditary nephritis

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    A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.

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  24. Alport syndrome alport deafness-nephropathy, alport hearing loss-nephropathy

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    A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.

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  25. Alzheimer disease

    A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.

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  26. Alzheimer disease 3

    Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.

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  27. Alzheimer disease 4

    Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.

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  28. Alzheimer's disease

    A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the [...]

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  29. Alzheimer's Disease alzheimer dementia, alzheimer disease, alzheimer's dementia, alzheimer's disease

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    A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.

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  30. amyotrophic lateral sclerosis

    A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.

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  31. Amyotrophic Lateral Sclerosis als, amyotrophic lateral sclerosis, lou gehrig disease

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    A neurodegenerative disorder characterized by progressive degeneration of the motor neurons of the central nervous system. It results in weakness and atrophy of the muscles which leads to an inability to initiate and control voluntary movements.

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  32. Amyotrophic lateral sclerosis als, charcot disease, lou gehrig disease

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    A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

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  33. Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia als10, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia

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    An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the TARDBP gene, encoding TAR DNA-binding protein 43.

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  34. amyotrophic lateral sclerosis type 10

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  35. Androgen insensitivity syndrome ais, androgen resistance syndrome, goldberg-maxwell syndrome, morris syndrome, testicular feminization syndrome

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    A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).

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  36. anemia

    A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of [...]

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  37. Aneuploidy aneuploid, aneuploidy

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    A chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24).

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  38. Angelman Syndrome angelman syndrome

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    A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.

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  39. Aniridia aniridia

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    A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.

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  40. Ankylosing Spondylitis ankylosing spondylitis

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    An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.

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  41. ankylosing spondylitis ankylosing spondylarthritides, ankylosing spondylarthritis, ankylosing spondylitis, ankylosing spondyloarthritides, ankylosing spondyloarthritis, bechterew dis, bechterew disease, bechterew's disease, bechterews dis, bechterews disease, bekhterev syndrome, bekhterev's disease, marie struempell dis, marie struempell disease, marie-struempell disease, marie-strumpell disease, rheumatoid spondylitis, spondylarthritides, ankylosing, spondylarthritis ankylopoietica, spondylarthritis, ankylosing, spondylitis, ankylosing, spondylitis, rheumatoid, spondyloarthritides, ankylosing, spondyloarthritis, ankylosing

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    An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.; A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and [...]

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  42. anti-social behavior

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  43. Aortic Dissection aortic dissection

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    A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media.

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  44. aplastic anemia

    Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.

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  45. Arrhythmia arrhythmia, cardiac arrhythmia

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    Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.

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  46. arrhythmogenic right ventricular cardiomyopathy

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  47. Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia, arvc, arvd

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    A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.

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  48. arrhythmogenic right ventricular dysplasia 5

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  49. arrhythmogenic right ventricular dysplasia 9

    An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.

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  50. atopic eczema allergic, allergic dermatitis, allergic form of dermatitis, atopic dermatitides, atopic dermatitis, atopic dermatitis and related conditions, atopic dermatitis and related conditions (disorder), atopic eczema, atopic neurodermatitides, atopic neurodermatitis, besnier's prurigo, dermatitides, atopic, dermatitis, atopic, disseminated neurodermatitides, disseminated neurodermatitis, eczema, eczema, atopic, eczema, infantile, eczematous dermatitis, infantile eczema, neurodermatitides, atopic, neurodermatitides, disseminated, neurodermatitis, atopic, neurodermatitis, disseminated, other atopic dermatitis, other atopic dermatitis and related conditions

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    A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.

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  51. Atrial Fibrillation af, afib, atrial fibrillation

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    A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)

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  52. atrioventricular block

    A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.

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  53. attention deficit hyperactivity disorder add, addh, adhd, attention deficit dis, attention deficit dis with hyperactivity, attention deficit disorder, attention deficit disorder with hyperactivity, attention deficit disorders, attention deficit disorders with hyperactivity, attention deficit hyperactivity dis, attention deficit hyperactivity disorder, inattentive type, attention deficit hyperactivity disorder, inattentive/distractible type, attention deficit hyperactivity disorder, predominantly inattentive type, attention deficit hyperactivity disorders, brain dysfunction, minimal, deficit disorder, attention, deficit disorders, attention, disorder, attention deficit, disorders, attention deficit, dysfunction, minimal brain, hyperkinetic disorder, hyperkinetic syndrome, minimal brain dysfunction, syndromes, hyperkinetic

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    A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority [...]

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  54. Auditory Neuropathy Spectrum Disorder ansd, auditory dys-synchrony, auditory neuropathy, auditory neuropathy spectrum disorder

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    A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.

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  55. Autism autism

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    Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and [...]

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  56. Autism autism, autistic disorder

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    A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years.

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  57. autism spectrum disorder

    A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.

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  58. Autism Spectrum Disorder autism spectrum disorder, pervasive developmental disorders

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    A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.

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  59. Autism Spectrum Disorder

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  60. autism spectrum disorder autism spectrum disease, autism spectrum disorder, autism spectrum disorders, autistic spectrum disorder, child development dis pervasive, child development disorders, pervasive, development disorder, pervasive, development disorders, pervasive, disorder, autism spectrum, disorder, pervasive development, disorders, autism spectrum, disorders, pervasive development, pdd, pervasive child development dis, pervasive child development disorders, pervasive development disorder, pervasive development disorders, pervasive developmental disorder - not otherwise specified, pervasive developmental disorders, spectrum disorder, autism, spectrum disorders, autism

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    A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.; Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of [...]

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  61. autosomal dominant cerebellar ataxia

    A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.

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  62. Autosomal Dominant Optic Atrophy autosomal dominant optic atrophy

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    An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.

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  63. Autosomal dominant optic atrophy plus syndrome doa+, optic atrophy-deafness-polyneuropathy-myopathy syndrome, optic atrophy-hearing loss-polyneuropathy-myopathy syndrome

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    A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.

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  64. autosomal dominant Parkinson disease 1

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  65. Autosomal Dominant Polycystic Kidney Disease autosomal dominant polycystic kidney disease

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    Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts.

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  66. Autosomal dominant polycystic kidney disease adpkd, adpkd - autosomal dominant polycystic kidney disease, adult type autosomal dominant polycystic kidney disease, autosomal dominant adult polycystic kidney disease, autosomal dominant polycystic kidney disease, polycystic kidney disease, adult type, polycystic kidney disease, adult type (disorder), polycystic kidney disease, autosomal dominant, polycystic kidney, autosomal dominant, polycystic kidneys - adult type

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    Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys.; Autosomal dominant form of polycystic kidney disease.

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  67. Autosomal Dominant Torsion Dystonia 1 autosomal dominant torsion dystonia 1, dyt1

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    An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by involuntary muscle contractions in the arms, legs, trunk, and neck.

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  68. Autosomal Recessive Osteopetrosis autosomal recessive osteopetrosis, malignant osteopetrosis

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    An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some [...]

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  69. autosomal recessive osteopetrosis 4

    An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.

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  70. Autosomal Recessive Polycystic Kidney Disease autosomal recessive polycystic kidney, autosomal recessive polycystic kidney disease, polycystic kidney disease, infantile type

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    Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6.

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  71. Bardet-Biedl Syndrome bardet-biedl syndrome, bbs, laurence-moon syndrome, laurence-moon-bardet-biedl syndrome, laurence-moon-biedl syndrome

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    An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills.

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  72. Bardet-Biedl syndrome bbs

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    A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.

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  73. Barth Syndrome 3-methylglutaconic aciduria type 2, barth syndrome

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    A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.

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  74. Becker muscular dystrophy

    A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.

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  75. Becker muscular dystrophy

    Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

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  76. Becker muscular dystrophy becker dystrophinopathy, bmd

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    A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

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  77. Benign familial infantile epilepsy benign familial infantile convulsions, benign familial infantile seizures, bfie, bfis

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    Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

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  78. bestrophinopathy

    A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.

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  79. beta thalassemia

    A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.

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  80. Beta-propeller protein-associated neurodegeneration bpan, nbia5, neurodegeneration with brain iron accumulation type 5, senda, static encephalopathy of childhood with neurodegeneration in adulthood

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    Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

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  81. Beta-thalassemia

    Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).

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  82. Bilateral Frontoparietal Polymicrogyria bfpp, bilateral frontoparietal polymicrogyria

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    An autosomal recessive condition caused by mutation(s) in the ADGRG1 gene, encoding adhesion G-protein coupled receptor G1. It is characterized by motor and cognitive developmental delay, pyramidal signs, and seizures.

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  83. Bilateral striopallidodentate calcinosis bspdc, cerebrovascular ferrocalcinosis, idiopathic basal ganglia calcification, pfbc, primary familial brain calcification

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    Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

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  84. Bipolar Disorder bipolar disorder, manic depressive disorder, manic-depression

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    A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.

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  85. bipolar disorder affective bipolar psychosis, affective psychosis, bipolar, bipolar affective disorder, bipolar affective disorder , current episode mixed (disorder), bipolar affective disorder, current episode depression (disorder), bipolar affective disorder, manic, unspecified degree, bipolar affective disorder, mixed, unspecified degree, bipolar affective psychosis, bipolar depression, bipolar dis, bipolar disease, bipolar disorder, bipolar disorder (disorder), bipolar disorder manic phase, bipolar disorder nos, bipolar disorder, nos, bipolar disorder, unspecified, bipolar disorders, depression, bipolar, depressive-manic psych., disorder, bipolar, disorder, manic, major affective disorder, mania, manias, manic bipolar affective disorder, manic bipolar i disorder, manic bipolar i disorder (disorder), manic depressive disorder, manic depressive illness, manic depressive psychosis, manic dis, manic disorder, manic disorders, manic state, manic states, manic-depression, manic-depressive illness, manic-depressive psychoses, manic-depressive psychosis, manic-depressive syndrome nos, mdi - manic-depressive illness, mixed bipolar affective disorder (disorder), mixed bipolar affective disorder, nos (disorder), mixed bipolar disorder, mixed bipolar i disorder (disorder), psychoses, bipolar affective, psychoses, manic depressive, psychoses, manic-depressive, psychosis, bipolar affective, psychosis, manic depressive, psychosis, manic-depressive, state, manic, states, manic, unspecified bipolar affective disorder, unspecified bipolar affective disorder (disorder), unspecified bipolar affective disorder, nos, unspecified bipolar affective disorder, nos (disorder), unspecified bipolar affective disorder, unspecified, unspecified bipolar affective disorder, unspecified (disorder), [x]bipolar affective disorder, unspecified, [x]bipolar affective disorder, unspecified (disorder)

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    A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).; A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.; A major affective disorder marked by severe mood [...]

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  86. Birt-Hogg-Dube Syndrome birt-hogg-dube syndrome

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    A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may [...]

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  87. Breast Carcinoma breast cancer, breast cancer, nos, breast carcinoma, cancer of breast, cancer of the breast, carcinoma of breast, carcinoma of the breast, mammary carcinoma

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    A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by [...]

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  88. Brugada syndrome

    A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.

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  89. Brugada Syndrome brugada syndrome, right bundle branch block, st segment elevation, and sudden death syndrome

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    A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.

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  90. Brugada syndrome idiopathic ventricular fibrillation, brugada type

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    A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.

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  91. Brugada syndrome 1

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  92. Cardiomyopathy cardiomyopathy, cardiomyopathy, nos

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    A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.

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  93. Cardiotoxicity cardiac toxicity, cardiotoxicity, toxicity, cardiac

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    Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue.

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  94. Catecholaminergic polymorphic ventricular tachycardia bidirectional ventricular tachycardia induced by catecholamine, cpvt, malignant paroxysmal ventricular tachycardia, polymorphic ventricular tachycardia induced by catecholamines

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    A rare, severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.

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  95. Central Hypothyroidism central hypothyroidism, hypothalamic-pituitary hypothyroidism, secondary hypothyroidism, thyroid stimulating hormone deficiency, thyrotropin deficiency, tsh deficiency

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    Abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis.

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  96. Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy cadasil, hereditary multi-infarct dementia

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    CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

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  97. Cerebral Cavernous Malformation cerebral cavernous malformation

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    A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.

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  98. cerebrovascular disease

    An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.

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  99. Cernunnos-XLF deficiency cernunnos deficiency, cernunnos xlfd, combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, nhej1 deficiency

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    Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

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  100. cervical artery dissection cervical artery dissection

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    A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.; a tear within the wall of any of the [...]

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  101. Charcot-Marie-Tooth Disease charcot-marie-tooth disease, hereditary motor and sensory neuropathy, hereditary sensorimotor neuropathy

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    An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.

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  102. Charcot-Marie-Tooth disease type 1

    A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.

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  103. Charcot-Marie-Tooth disease type 2

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  104. CHARGE Syndrome charge association, charge syndrome, coloboma, heart defects, choanal atresia, retardation of growth and development, genital abnormalities, and ear anomalies association, coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association

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    A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.

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  105. childhood acute myeloid leukemia acute myeloid leukemia (aml), acute myeloid leukemia of childhood, childhood acute granulocytic leukemia, childhood acute myeloblastic leukemia, childhood acute myelocytic leukemia, childhood acute myelogenous leukemia, childhood acute myeloid leukaemia, childhood acute myeloid leukemia, childhood aml, paediatric acute myeloid leukaemia, pediatric acute myeloblastic leukemia, pediatric acute myelocytic leukemia, pediatric acute myelogenous leukemia, pediatric acute myeloid leukemia, pediatric aml

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    Acute myeloid leukemia occurring in childhood.

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  106. cholestasis

    A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.

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  107. Choroideremia choroideremia, progressive choroidal atrophy

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    A rare, X-linked inherited disorder characterized by choroid atrophy and retinal degeneration. It leads to progressive loss of vision.

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  108. chromosomal disease

    A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.

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  109. chromosome 16p11.2 deletion syndrome

    A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.

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  110. chronic intestinal pseudoobstruction

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  111. Chronic Lymphocytic Leukemia b cell chronic lymphocytic leukemia, b cell cll, b cell lymphocytic leukemia, b-cell chronic lymphocytic leukemia, b-cell chronic lymphoid leukemia, b-cell cll, b-cell lymphocytic leukemia, bcll, chronic b-cell lymphocytic leukemia, chronic lymphatic leukemia, chronic lymphocytic leukemia, chronic lymphocytic leukemia (cll), chronic lymphocytic leukemia, nos, cll, hematopoeitic - chronic lymphocytic leukemia (cll)

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    The most common type of chronic lymphoid leukemia. It comprises 90% of chronic lymphoid leukemias in the United States. Morphologically, the neoplastic cells are small, round B-lymphocytes. This type of leukemia is not considered to be curable with available therapy. (WHO, 2001)

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  112. Chronic myeloid leukemia chronic granulocytic leukemia, chronic myelogenous leukemia, cml

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    Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

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  113. Class 3 Obesity class 3 obesity, class iii obesity, extreme obesity, severe obesity, severe_obesity

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    Body mass index (BMI) greater than 40.

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  114. Clubfoot club foot, clubbed foot, clubfoot, talipes, talipes equinovarus

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    The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.

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  115. Coffin-Siris Syndrome coffin-siris syndrome

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    A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide nose and lips, sparse scalp hair but thick eyebrows and eyelashes. The clinical course includes developmental delays in motor [...]

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  116. Cognitive Debriefing cognitive debriefing

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    The process of testing an instrument or patient questionnaire with target populations to see if it is understood as intended by the creators of the tool.

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  117. combined oxidative phosphorylation deficiency 23

    A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11.

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  118. Congenital Cataract congenital cataract

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    Cataract that is present at birth.

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  119. congenital central hypoventilation syndrome

    An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.

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  120. Congenital contractural arachnodactyly beals syndrome, beals-hecht syndrome, cca syndrome, distal arthrogryposis type 9

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    Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

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  121. Congenital Heart Disease congenital heart disease

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    A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.

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  122. congenital heart disease chd, congenital anomaly of heart, congenital heart defect, congenital heart defects, congenital heart disease, heart defect, heart malformation

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    any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels; A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.

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  123. Congenital muscular dystrophy due to LMNA mutation l-cmd, lmna-related congenital muscular dystrophy

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    A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.

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  124. Congenital Myasthenic Syndrome congenital myasthenic syndrome

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    A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis.

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  125. copper ion binding

    Interacting selectively and non-covalently with copper (Cu) ions.

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  126. Cornelia De Lange Syndrome cornelia de lange syndrome

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    A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.

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  127. Coronary Slow Flow Phenomenon coronary slow flow phenomenon, csfp

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    An angiographic finding characterized by delayed progression of contrast medium into distal epicardial vessels in the absence of significant coronary artery disease.

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  128. corticobasal degeneration

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  129. creatine transporter deficiency

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  130. Crigler-Najjar syndrome

    A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).

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  131. CTNNB1 Gene Mutation beta catenin gene mutation, beta-catenin gene mutation, cadherin-associated protein, beta 1 (88kd) gene mutation, cadherin-associated protein, beta gene mutation, catenin beta 1 gene mutation, catenin beta-1 gene mutation, ctnnb gene mutation, ctnnb1 gene mutation, positive

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    A change in the nucleotide sequence of the CTNNB1 gene.

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  132. Cystic Fibrosis cystic fibrosis

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    A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, [...]

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  133. Cystic fibrosis cf, mucoviscidosis

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    A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.

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  134. cytochrome-c oxidase deficiency disease

    A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.

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  135. Danon disease

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  136. Deafness, Autosomal Recessive 1A deafness, autosomal recessive 1a, dfnb1a

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    An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.

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  137. Dentatorubral pallidoluysian atrophy dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

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    A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.

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  138. Desminopathy desmin-related myofibrillar myopathy

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    A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving [...]

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  139. developmental and epileptic encephalopathy

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  140. developmental and epileptic encephalopathy 31

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  141. developmental and epileptic encephalopathy, 26

    Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.

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  142. developmental and epileptic encephalopathy, 28

    Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.

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  143. developmental and epileptic encephalopathy, 46

    Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.

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  144. Developmental Delay delayed developmental milestones, developmental delay

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    Failure to meet, or late achievement of developmental milestones.

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  145. Diabetes Mellitus diabetes, diabetes mellitus, diabetes_mellitus, dm

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    A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

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  146. diabetes mellitus diabetes, diabetes mellitus, diabetes mellitus (disease), diabetes mellitus (disorder), diabetes mellitus, nos, diabetes nos, dm, dm - diabetes mellitus

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    A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.; A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.

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  147. dilated cardiomyopathy

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  148. Dilated Cardiomyopathy congestive cardiomyopathy, dilated cardiomyopathy

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    Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.

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  149. dilated cardiomyopathy cardiomyopathies, congestive, cardiomyopathies, dilated, cardiomyopathies, familial idiopathic, cardiomyopathy, congestive, cardiomyopathy, dilated, cardiomyopathy, dilated, cmd1a, cardiomyopathy, dilated, lmna, cardiomyopathy, dilated, with conduction deffect1, cardiomyopathy, familial idiopathic, ccm - congestive cardiomyopathy, cocm - congestive cardiomyopathy, congestive cardiomyopathies, congestive cardiomyopathy, congestive cardiomyopathy (disorder), congestive dilated cardiomyopathy, dcm, dcm - dilated cardiomyopathy, dilated cardiomyopathies, dilated cardiomyopathy, familial idiopathic cardiomyopathies, familial idiopathic cardiomyopathy, idiopathic cardiomyopathies, familial, idiopathic cardiomyopathy, familial, primary dilated cardiomyopathy, primary dilated cardiomyopathy (disorder)

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    An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.; A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.; Cardiomyopathy which is characterized by [...]

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  150. Donnai-Barrow syndrome dbs/foar syndrome, diaphragmatic hernia-exomphalos-hypertelorism syndrome, diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome, facio-oculo-acoustico-renal syndrome, foar syndrome, holmes-schepens syndrome, syndrome of ocular and facial anomalies, telecanthus and deafness, syndrome of ocular and facial anomalies, telecanthus and hearing loss

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    A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

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  151. Down syndrome complete trisomy 21 syndrome, complete trisomy 21 syndrome (disorder), down syndrome, down syndrome, isolated cases, down syndrome, partial trisomy 21, down's syndrome, down's syndrome - trisomy 21, down's syndrome nos, down's syndrome nos (disorder), downs syndrome, g trisomy, leukemia, megakaryoblastic, with or without down syndrome, somatic, mongolism, partial trisomy 21 down syndrome, syndrome, down, syndrome, down's, t21 - trisomy 21, trisomy 21, trisomy 21 (down syndrome), trisomy 21 (down syndrome)downs syndrometrisomy 21 syndrome, trisomy 21 nos, trisomy 21 syndrome, trisomy 21, meiotic nondisjunction, trisomy 21, mitotic nondisjunction

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    A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Cardiac and gastrointestinal malformations, a [...]

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  152. Dravet syndrome

    Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.

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  153. Dravet syndrome severe myoclonic epilepsy of infancy, severe myoclonus epilepsy of infancy, smei

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    A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.

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  154. drug-induced liver injury drug induced hepatotoxicity, drug-induced disorder of liver, drug-induced liver disease, drug-induced liver injury, hepatitis, drug-induced, hepatitis, toxic, liver injury, drug-induced, toxic hepatitis

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    A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.; A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.

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  155. Duchenne muscular dystrophy

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  156. Duchenne muscular dystrophy

    Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

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  157. Duchenne Muscular Dystrophy duchenne, duchenne muscular dystrophy

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    An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

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  158. Duchenne muscular dystrophy dmd, severe dystrophinopathy, duchenne type

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    A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

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  159. Dyskeratosis Congenita dkc, dyskeratosis congenita, zinsser-engman-cole syndrome

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    A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region.

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  160. Ehlers-Danlos Syndrome ehlers-danlos syndrome

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    An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.

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  161. Emery-Dreifuss muscular dystrophy

    A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

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  162. Emery-Dreifuss Muscular Dystrophy emery-dreifuss muscular dystrophy

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    An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.

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  163. endocrine gland cancer

    An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.

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  164. Epidermodysplasia Verruciformis epidermodysplasia verruciformis, ev, lewandowsky-lutz dysplasia

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    An extremely rare skin disorder usually inherited in an autosomal recessive pattern and caused by mutation(s) in the TMC6 or TMC8 gene, encoding transmembrane channel-like protein 6 and transmembrane channel-like protein 8, respectively. It is characterized by chronic human papillomavirus infection. Patients develop papillomatous wart-like lesions and pigmented plaques on the skin. It predisposes to cutaneous carcinomas, especially in situ and [...]

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  165. Epidermolysis Bullosa Dystrophica, Autosomal Recessive epidermolysis bullosa dystrophica, autosomal recessive, rdeb, recessive dystrophic epidermolysis bullosa

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    An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.

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  166. epidermolysis bullosa simplex

    An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.

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  167. epilepsy ef - epileptic fit, ep - epilepsy, epilectic attack, nos, epilep nec w/o intr epil, epilep nos w/o intr epil, epilepsy, epilepsy (disorder), epilepsy and recurrent seizures, epilepsy nec w intr epil, epilepsy nos, epilepsy nos (disorder), epilepsy nos w intr epil, epilepsy, nos, epilepsy, unspecified, epilepsy, unspecified, with intractable epilepsy, epilepsy, unspecified, without mention of intractable epilepsy, epileptic, epileptic attack, epileptic attack, nos, epileptic convulsions, epileptic convulsions, nos, epileptic disorder, epileptic disorder, nos, epileptic fit, epileptic fits, epileptic fits, nos, epileptic seizure, epileptic seizure (finding), epileptic seizures, epileptic seizures, nos, generalised convulsion, generalised fit, generalised seizure, generalized convulsion, generalized fit, generalized seizure, generalized seizure (finding), other forms of epilepsy, other forms of epilepsy (disorder), other forms of epilepsy and recurrent seizures, other forms of epilepsy nos, other forms of epilepsy nos (disorder), other forms of epilepsy, with intractable epilepsy, other forms of epilepsy, without mention of intractable epilepsy, seizure disorder, seizure disorder (disorder), [x]other epilepsy, [x]other epilepsy (disorder)

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    A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.; A disorder characterized by recurrent seizures; A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive [...]

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  168. Epileptic encephalopathy convulsive encephalopathy

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    A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.

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  169. Fabry disease

    A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.

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  170. Fabry Disease alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, fabry disease, fabry's disease

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    A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.

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  171. Facioscapulohumeral dystrophy facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy, fsh dystrophy, fshd, landouzy-dejerine dystrophy, landouzy-dejerine myopathy

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    A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

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  172. facioscapulohumeral muscular dystrophy

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  173. facioscapulohumeral muscular dystrophy 2

    A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.

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  174. factor VIII deficiency

    A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.

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  175. familial adenomatous polyposis

    An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.

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  176. Familial Dysautonomia familial dysautonomia, hereditary sensory and autonomic neuropathy type iii, hsan 3, hsan iii, neuropathy, hereditary sensory and autonomic, type iii, riley- day, riley-day syndrome

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    A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.

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  177. familial hypercholesterolemia

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  178. familial hypercholesterolemia familial hyperbetalipoproteinaemia, familial hypercholesteremia, familial hypercholesterolaemia, familial hypercholesterolemia, fredrickson type iia hyperlipoproteinemia, fredrickson type iia lipidaemia, hyperbetalipoproteinemia, hyperlipoproteinemia type ii

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    Familial hypercholesterolaemia is an autosomal inherited disorder characterized by markedly elevated LDL-cholesterol levels and an increased risk of premature atherosclerotic cardiovascular disease; An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.; Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)

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  179. Familial long QT syndrome congenital long qt syndrome, lqts

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    A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.

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  180. familial partial lipodystrophy type 2

    A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.

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  181. Familial platelet disorder with associated myeloid malignancy familial platelet disorder with predisposition to acute myelogenous leukemia, familial platelet disorder with predisposition to myeloid malignancy, familial platelet disorder with propensity to acute myeloid leukemia, familial thrombocytopenia with propensity to acute myelogenous leukemia, fpd/aml, fpdmm, fps/aml

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    A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.

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  182. Familial progressive cardiac conduction defect familial lenègre disease, familial lev disease, familial lev-lenègre disease, familial pccd, familial progressive heart block, hereditary bundle branch defect

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    A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

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  183. Fanconi anemia fanconi pancytopenia

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    A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

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  184. Fanconi-Bickel syndrome glycogen storage disease due to glut2 deficiency, glycogen storage disease type 11, glycogen storage disease type xi, glycogenosis due to glut2 deficiency, gsd due to glut2 deficiency, gsd type 11, gsd type xi

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    A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.

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  185. fetal and neonatal alloimmune thrombocytopenia

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  186. FG syndrome

    A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.

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  187. fibrodysplasia ossificans progressiva

    A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.

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  188. Floating-Harbor syndrome

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  189. floating-Harbor syndrome

    Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

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  190. focal segmental glomerulosclerosis fgs, fgs (focal glomerular sclerosis), focal glomerular sclerosis, focal glomerulosclerosis, focal segmental glomerulosclerosis, fsgs, fsgs - focal segmental glomerulosclerosis, glomerulonephritis, focal sclerosing, glomerulosclerosis, glomerulosclerosis, focal, glomerulosclerosis, focal segmental

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    A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE.; A renal disorder characterized by sclerotic [...]

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  191. Fragile X Syndrome fragile x syndrome

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    A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.

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  192. Fragile X syndrome frax syndrome, fraxa syndrome, fxs, martin-bell syndrome

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    A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.

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  193. Friedreich Ataxia friedreich ataxia, friedreich's ataxia

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    An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.

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  194. Frontotemporal Dementia frontotemporal dementia

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    A syndrome caused by progressive degeneration of the frontal or temporal lobes of the brain. It is manifested with personality changes and deterioration of the language skills.

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  195. Frontotemporal dementia ftd

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    Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).

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  196. Gabriele-de Vries syndrome yy1 haploinsufficiency syndrome

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    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint [...]

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  197. Gaucher disease acid beta-glucosidase deficiency, glucocerebrosidase deficiency

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    Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).

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  198. Gaucher disease type 3 cerebral juvenile and adult form of gaucher disease, chronic neuronopathic gaucher disease, gaucher disease, subacute neuronopathic type

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    Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

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  199. Generalized Epilepsy generalized epilepsy

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    A chronic condition characterised by recurrent generalised seizures.

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  200. Gitelman Syndrome gitelman syndrome

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    An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.

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  201. Glomerulopathy glomerulopathy

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    Chronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins.

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  202. glycogen storage disease

    A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

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  203. GNB5-related intellectual disability-cardiac arrhythmia syndrome

    A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.

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  204. Healthy healthy, well

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    Having no significant health-related issues.

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  205. Hearing Loss hearing loss

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    A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.

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  206. heart disease cardiac dis, cardiac disease, cardiac diseases, disease of heart, disease or disorder of heart, disease, cardiac, disease, heart, diseases, cardiac, diseases, heart, disorder of heart, disorder of heart/pericardium, heart dis, heart disease, heart disease or disorder, heart diseases, heart disorder, heart trouble, heart/pericardial disease, heart/pericardial disease or disorder, heart/pericardial disorder, heart/pericardial trouble

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    Pathological conditions involving the HEART including its structural and functional abnormalities.; A disease involving the heart and/or pericardium.

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  207. Heart Failure cardiac failure, heart failure

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    Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.

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  208. hematologic disease blood disease, blood disorder, blood dyscrasia, disease of hematopoietic system, disease of the blood and blood-forming organs, disease or disorder of hematopoietic system, disorder of hematopoietic system, haematological system disease, haematological system disorder, hematologic and lymphocytic disorder, hematologic disease, hematologic diseases, hematologic disorder, hematological disease, hematological disorder, hematological system disease, hematological system disorder, hematopoietic disease, hematopoietic system disease, hematopoietic system disease or disorder, rare hematologic disease

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    Disorders of the blood and blood forming tissues.; A disease involving the hematopoietic system.

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  209. Hemophilia B christmas disease, factor ix deficiency, hemophilia b, hereditary factor ix deficiency, hereditary factor ix deficiency disease

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    An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.

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  210. Hepatocellular Carcinoma carcinoma of liver cells, carcinoma of the liver cells, carcinoma, hepatocellular, malignant, hcc, hepatocellular cancer, hepatocellular carcinoma, hepatoma, lihc, liver cell cancer (hepatocellular carcinoma), liver cell carcinoma, primary carcinoma of liver cells, primary carcinoma of the liver cells

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    A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic [...]

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  211. Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes hepatocyte nuclear factor 1-alpha-associated monogenic diabetes, hnf1a-associated monogenic diabetes, maturity-onset diabetes of the young, type 3, mody3

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    Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.

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  212. Hepatolenticular Degeneration hepatolenticular degeneration, wilson disease, wilson's disease

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    A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.

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  213. Hereditary Hemorrhagic Telangiectasia hereditary hemorrhagic telangiectasia, osler-weber-rendu disease, telangiectasia, hereditary hemorrahagic, of rendu, osler

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    An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.

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  214. hereditary multiple exostoses

    An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.

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  215. Hereditary Retinal Dystrophy hereditary retinal dystrophy

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    An inherited form of retinal dystrophy.

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  216. Hereditary Spastic Paraplegia hereditary spastic paraplegia

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    Spastic paraplegia that is transmitted from parent to child.

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  217. Hereditary spastic paraplegia familial spastic paraplegia, hereditary spastic paraparesis, hsp, spg, strümpell-lorrain disease

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    A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.

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  218. hereditary spastic paraplegia 56

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  219. Herpes Simplex Encephalitis herpes simplex encephalitis

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    A serious viral disorder characterized by infection of the brain by herpes simplex virus type 1 or 2. Herpes simplex virus type 1 affects adults, whereas herpes simplex virus type 2 affects newborns. Signs and symptoms include fever, headaches, vomiting, seizures and psychiatric manifestations.

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  220. Holt-Oram Syndrome holt-oram syndrome

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    A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities.

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  221. Huntington disease huntington chorea

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    Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

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  222. Huntington's Disease hd, huntington disease, huntington's chorea, huntington's disease

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    A progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion. Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a decline in mental abilities, and the development of psychiatric problems.

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  223. Hutchinson-Gilford progeria syndrome hgps, progeria

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    Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and [...]

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  224. hyperinsulinemic hypoglycemia hyperinsulinemia hypoglycemia, hyperinsulinemic hypoglycemia, hyperinsulinemic hypoglycemia (disease), islet cell hyperplasia, nesidioblastosis, persistent hyperinsulinemia hypoglycemia of infancy

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    A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.; An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene [...]

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  225. hyperlipoproteinemia type IV

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  226. Hyperlipoproteinemia, Type IIa familial hypercholesterolemia, fh, hyperlipidemia type iia, hyperlipoproteinemia, type iia, type iia hyperlipidemia

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    An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.

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  227. Hypertension high blood pressure, high blood pressure/ hypertension, htn, hypertension, vascular hypertensive disorder

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    Blood pressure that is abnormally high.

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  228. Hypertrophic cardiomyopathy cardiomyopathy, hypertrophic, enlarged and thickened heart muscle, hcm

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    Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

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  229. Hypertrophic Cardiomyopathy hypertrophic cardiomyopathy

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    A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

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  230. hypertrophic cardiomyopathy asymmetric septal hypertrophies, asymmetric septal hypertrophy, cardiomyopathies, hypertrophic, cardiomyopathies, hypertrophic obstructive, cardiomyopathy, hypertrophic, cardiomyopathy, hypertrophic obstructive, hcm, hcm - hypertrophic cardiomyopathy, hocm - hypertrophic obstructive cardiomyopathy, hyper. obst. cardiomyopathy, hypertr obstr cardiomyop, hypertrophic cardiomyopathies, hypertrophic cardiomyopathy, hypertrophic cardiomyopathy (disorder), hypertrophic myocardiopathy, hypertrophic obstructive cardiomyopathies, hypertrophic obstructive cardiomyopathy, hypertrophic obstructive cardiomyopathy (disorder), hypertrophic subaortic stenosis, hypertrophies, asymmetric septal, hypertrophy, asymmetric septal, idiopathic hypertrophic subaortic stenosis, idiopathic hypertrophic subvalv stenosis, idiopathic hypertrophic subvalvular stenosis, ihss, ihsss, obstructive cardiomyopathies, hypertrophic, obstructive cardiomyopathy, obstructive cardiomyopathy, hypertrophic, obstructive hypertrophic cardiomyopathy, primary hypertrophic cardiomyopathy, primary hypertrophic cardiomyopathy (disorder) [ambiguous], septal hypertrophies, asymmetric, septal hypertrophy, asymmetric, subvalv stenosis, subvalv stenosis idiopathic hypertrophic, subvalvular stenosis, idiopathic hypertrophic

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    A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).; A condition in which the myocardium is hypertrophied without an obvious [...]

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  231. Hypertrophic cardiomyopathy

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  232. Hypomyelination with atrophy of basal ganglia and cerebellum h-abc

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    A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

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  233. Hypophosphatasia hypophosphatasia

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    A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.

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  234. Hypoplastic left heart syndrome hlhs

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    A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.

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  235. hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

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  236. IGA glomerulonephritis berger disease, berger's disease, berger's iga or igg nephropathy, focal glomerulonephritis, glomerulonephritis, iga, iga glomerulonephritis, iga nephropathy, igan, immunoglobulin a nephropathy, nephropathy, iga, primary iga nephropathy, segmental glomerulonephritis

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    A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease.; Inflammation of a specific segment of glomeruli within the kidney.

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  237. immune system disease autoimmune disease nec, autoimmune disease, not elsewhere classified, autoimmune diseases, defic cell immunity nos, deficiency of cell-mediated immunity, disease of immune system, disease or disorder of immune system, disorder of immune system, disorder of the immune mechanism nos, disorder of the immune mechanism nos (disorder), disorders involving the immune mechanism, immundef t-cell def nos, immune disease, immune disorder, immune dysfunction, immune mechanism dis nec, immune mechanism dis nos, immune system and related disorders, immune system disease or disorder, immune system disorder, immunodeficiency and immunosuppression disorders, immunodeficiency with predominant t-cell defect, unspecified, other deficiency of cell-mediated immunity, other specified disorders involving the immune mechanism, other specified disorders of the immune mechanism, other specified disorders of the immune mechanism (disorder), unspecified disorder of immune mechanism, [x]disorder involving the immune mechanism, unspecified, [x]disorder involving the immune mechanism, unspecified (disorder)

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    A disorder resulting from an abnormality in the immune system.; A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and [...]

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  238. Immunodeficiency immunodeficiency, immunodeficient

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    A disorder in which the immune system is unable to mount an adequate immune response.

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  239. Infertility infertility

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    Inability to produce live offspring.

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  240. inflammatory disease anatomical structure inflammation, inflammation of anatomical structure, inflammatory disease, inflammatory disorder

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    A disease involving a pathogenic inflammatory response in the anatomical structure.; A disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ]

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  241. intellectual developmental disorder 61

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  242. Intellectual disability intellectual disability, mental deficiency, mental retardation, mental retardation, nonspecific, mental-retardation, nonprogressive intellectual disability, nonprogressive mental retardation

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    Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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  243. Intellectual Disability intellectual disabilities, intellectual disability

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    A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.

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  244. Intermediate epidermolysis bullosa simplex with cardiomyopathy intermediate ebs with cardiomyopathy

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    A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular [...]

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  245. Joubert syndrome cerebelloparenchymal disorder iv, classic joubert syndrome, cpd iv, joubert syndrome type a, joubert-boltshauser syndrome, pure joubert syndrome

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    A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

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  246. Juvenile amyotrophic lateral sclerosis jals, juvenile charcot disease, juvenile lou gehrig disease

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    Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.

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  247. Juvenile Huntington disease jhd, juvenile huntington chorea

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    Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

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  248. Juvenile Myelomonocytic Leukemia chronic myelomonocytic leukemia, jcml, jmml, juvenile chronic myelogenous leukemia, juvenile chronic myeloid leukemia, juvenile myelomonocytic leukemia

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    A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)

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  249. Kabuki Syndrome kabuki make-up syndrome, kabuki syndrome, kms, niikawa-kuroki syndrome

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    A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.

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  250. Kabuki syndrome kabuki make-up syndrome, niikawa-kuroki syndrome

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    A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad [...]

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  251. karyomegalic interstitial nephritis

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  252. Keipert syndrome nasodigitoacoustic syndrome

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    A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have [...]

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  253. Keratoconjunctivitis sicca dry eyes, keratitis sicca, xerophthalmia

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    Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.

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  254. Kleefstra Syndrome chromosome 9q34.3 deletion syndrome, kleefstra syndrome

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    A condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features.

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  255. Klinefelter syndrome

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  256. Klinefelter's syndrome 47,xxy syndrome, hypogonadotropic hypogonadism, klinefelter syndrome, klinefelter's syndrome, klinefelter's syndrome, xxy, xxy syndrome, xxy syndrome (klinefelter syndrome), xxy trisomy

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    A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.; A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated [...]

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  257. Krabbe disease galactocerebrosidase deficiency, galactosylceramidase deficiency, galc deficiency, globoid cell leukodystrophy

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    A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).

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  258. laminin alpha 2-related dystrophy lama2-related muscular dystrophy

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    Llaminin alpha 2-related dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form.

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  259. Leber congenital amaurosis

    A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

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  260. Leber Congenital Amaurosis leber congenital amaurosis

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    A congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment.

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  261. Leber hereditary optic neuropathy

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  262. Left ventricular noncompaction cardiomyopathy left ventricular non-compaction cardiomyopathy

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    Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.

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  263. Leigh Disease leigh disease, leigh syndrome, leigh's disease

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    An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.

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  264. Lennox-Gastaut Syndrome lennox-gastaut syndrome, lgs

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    A syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems.

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  265. Lethal brain and heart developmental defects

    A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.

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  266. Leukemia blood (leukemia), leukemia, leukemia nos, leukemia, disease, leukemia, malignant, leukemia, nos, leukemias, leukemias, general

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    A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include [...]

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  267. Leukodystrophy leukodystrophy

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    A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and [...]

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  268. Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome lbsl, leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

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    This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

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  269. limb-girdle muscular dystrophy

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  270. Limb-Girdle Muscular Dystrophy Type 2B lgmd2b, limb-girdle muscular dystrophy type 2b

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    An autosomal recessive condition caused by mutation(s) in the DYSF gene, encoding dysferlin. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.

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  271. Lissencephaly lissencephaly

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    A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.

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  272. Loeys-Dietz syndrome 3

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  273. Loeys-Dietz syndrome 5

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  274. Long QT Syndrome long qt syndrome, ventricular arrhythmia associated with long qt syndrome

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    A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may [...]

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  275. long QT syndrome 1

    A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.

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  276. Long QT Syndrome 1 long qt syndrome 1, lqt1, romano-ward syndrome

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    An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

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  277. long QT syndrome 2

    A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.

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  278. Long QT Syndrome 2 long qt syndrome 2, lqt2

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    An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

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  279. Long QT Syndrome 3 long qt syndrome 3, lqt3

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    An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

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  280. Long QT Syndrome 8 long qt syndrome 8, lqt8, timothy syndrome

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    An autosomal dominant condition caused by mutation(s) in the CACNA1C gene, encoding voltage-dependent L-type calcium channel subunit alpha-1C. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

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  281. Lujan-Fryns syndrome x-linked intellectual disability with marfanoid habitus

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    The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

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  282. LYN Gene Mutation jtk8 gene mutation, lyn gene mutation, lyn proto-oncogene, src family tyrosine kinase gene mutation, v-yes-1 yamaguchi sarcoma viral oncogene homolog gene mutation

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    A change in the nucleotide sequence of the LYN gene.

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  283. macular corneal dystrophy

    A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.

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  284. macular degeneration

    A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.

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  285. MADD

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  286. major depressive disorder

    An episode of depression lasting two or more weeks without an intervening episode of mania.

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  287. Marfan Syndrome marfan syndrome, marfan's syndrome

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    A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

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  288. Marfan syndrome mfs

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    Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

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  289. maternally-inherited Leigh syndrome

    Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.

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  290. maturity-onset diabetes of the young type 10

    A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.

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  291. Meester-Loeys syndrome

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  292. Meniere disease meniere disease, meniere's disease, mnire's vertigo, otogenic vertigo

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    A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.; A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.

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  293. Mental Retardation mental retardation

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    A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18.

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  294. Mental Retardation, Autosomal Dominant 39 mental retardation, autosomal dominant 39, mrd39

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    An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features.

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  295. migraine disorder

    A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.

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  296. Mild Cognitive Impairment

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  297. MIRAGE syndrome myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome, myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

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    A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted [...]

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  298. mitochondrial DNA depletion syndrome

    A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.

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  299. Mitochondrial DNA depletion syndrome, myopathic form mtdna depletion syndrome, myopathic form

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    Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

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  300. MODY maturity-onset diabetes of the young

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    MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

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  301. monogenic diabetes monogenic diabetes mellitus

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    Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood.

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  302. monogenic disease

    A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.

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  303. Monosomy 22q13.3 22q13.3 deletion, phelan-mcdermid syndrome

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    Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

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  304. Moyamoya Disease moyamoya disease

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    A rare inherited vascular disorder characterized by constriction of arteries at the base of the brain, resulting in the formation of collateral circulation in order to compensate for the constriction. The name "moyamoya" in Japanese means "puff of smoke" and derives from the characteristic radiographic appearance of the collateral vessels.

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  305. Mucopolysaccharidosis II

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  306. multiple myeloma kahler disease, kahler's disease, medullary plasmacytoma, multiple myeloma, multiple myeloma, resistance to, somatic mutation, multiple myeloma, susceptibility to, somatic mutation, multiple myeloma/plasma cell myeloma, myeloid neoplasm of plasma cell, myeloma, myeloma, multiple, myeloma, plasma cell, malignant, myelomatosis, plasma cell myeloid neoplasm, plasma cell myeloma

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    A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)

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  307. Multiple Osteochondromas multiple osteochondromas, osteochondromatosis

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    An autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma.

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  308. Multiple Sclerosis multiple sclerosis

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    A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.

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  309. Muscle Hypotonia

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  310. MYH9-related disease myh9-rd, myh9-related disorder, myh9-related syndrome, myh9-related syndromic thrombocytopenia

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    MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as [...]

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  311. myocardial infarction attack - heart, cardiac infarction, cardiac infarction, nos, heart attack, heart attack, nos, infarct, myocardial, infarction (mi), myocardial, infarction of heart, infarction of heart, nos, infarction, myocardial, infarctions, myocardial, infarcts, myocardial, mi, mi - myocardial infarction, mi, myocardial infarction, myocardial infarct, myocardial infarction, myocardial infarction (disease), myocardial infarction (disorder), myocardial infarction nos, myocardial infarction, (mi), myocardial infarction, nos, myocardial infarctions, myocardial infarcts

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    NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).; Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.

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  312. myoclonic epilepsy benign infantile myoclonic epilepsy, cryptogenic myoclonic epilepsy, early childhood epilepsy, myoclonic, early childhood, myoclonic epilepsy, encephalopathy, myoclonic, epilepsy, early childhood, myoclonic, epilepsy, myoclonic, early childhood, epilepsy, myoclonic, infantile, epilepsy, myoclonic, infantile, benign, epilepsy, myoclonic, infantile, severe, epilepsy, myoclonus, idiopathic myoclonic epilepsy, infantile severe myoclonic epilepsy, myoclonic absence epilepsymyoclonic astatic epilepsy, myoclonic encephalopathy, myoclonic epilepsy, myoclonic epilepsy, benign infantilemyoclonic epilepsy, early childhood, myoclonic epilepsy, infantile, myoclonic epilepsy, infantile, benign, myoclonic epilepsy, infantile, severe, myoclonic epilepsy, severe infantile, myoclonic epilepsy, severe, of infancy, myoclonic seizure disorder, severe infantile myoclonic epilepsy, severe myoclonic epilepsy of infancy, severe myoclonic epilepsy, infantile, symptomatic myoclonic epilepsy

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    A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).

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  313. myopathy myopathy

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    A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.; A muscular disease in which the muscle fibers do not function resulting in muscular weakness.

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  314. myotonic dystrophy type 1

    A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

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  315. Neurodevelopmental Disorder neurodevelopmental disorder

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    A childhood disorder that has a neurological basis and manifests as a developmental disability.

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  316. neurofibromatosis

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  317. Neurofibromatosis neurofibromatosis, neurofibromatosis syndrome, neurofibromatosis, nos

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    An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, [...]

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  318. neurofibromatosis type 1

    Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

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  319. Neuronal Intranuclear Inclusion Disease neuronal intranuclear inclusion disease, niid

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    A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive [...]

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  320. neuropathy

    A disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness.

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  321. NON RARE IN EUROPE: Hyperlipoproteinemia type 4 familial hypertriglyceridemia, hlp type 4

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    A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.; A laboratory test result indicating an autosomal dominant condition in which there is increased [...]

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  322. Non-specific early-onset epileptic encephalopathy non-specific eoee, undetermined early-onset epileptic encephalopathy, undetermined eoee

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    A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also [...]

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  323. None none, none at all

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    No person or thing, nobody, not any.

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  324. Nonketotic hyperglycinemia

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  325. Noonan Syndrome noonan syndrome, noonan's syndrome

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    A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.

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  326. normal

    A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average.

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