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. 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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  5. Acromesomelic dysplasia

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  6. 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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  7. 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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  8. 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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  9. 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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  10. adrenoleukodystrophy ald, bronze schilder disease, diffuse sclerosis, encephalitis periaxialis concentrica, encephalitis periaxialis, schilder's, siemerling-creutzfeldt disease, sudanophilic cerebral sclerosis, x-linked adrenoleukodystrophy

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    A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.

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  11. adult-onset leukoencephalopathy with axonal spheroids and pigmented glia hereditary diffuse leukoencephalopathy with spheroids

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    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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  12. 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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  13. 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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    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.; Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.; Degenerative changes in the macula lutea of the retina.

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  14. 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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  15. 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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  16. 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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  17. 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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  18. Alzheimer disease 3 ad3, alzheimer disease 3, alzheimer disease 3, early onset, alzheimer disease familial 3, alzheimer disease type 3, alzheimer's disease 3, alzheimer's disease type 3, early-onset autosomal dominant alzheimer disease caused by mutation in psen1, familial alzheimer disease, type 3, familial alzheimer's disease, type 3, psen1 early-onset autosomal dominant alzheimer disease

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    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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  19. Alzheimer disease 4 ad4, alzheimer disease 4, alzheimer disease type 4, alzheimer disease, familial4, alzheimer's disease 4, alzheimer's disease type 4, familial alzheimer disease, type 4, familial alzheimer's disease, type 4

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    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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  20. 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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  21. Alzheimer's disease ad, ad - alzheimer's disease, alzheimer dementia, alzheimer dementia, presenile, alzheimer dis, alzheimer disease, alzheimer type dementia, alzheimer's, alzheimer's dementia, alzheimer's disease, alzheimer's disease (disorder), alzheimer's disease, nos, alzheimers, alzheimers dementia, alzheimers dis, alzheimers disease, dat - dementia alzheimer's type, dementia in alzheimer's disease, dementia in alzheimer's disease (disorder), dementia in alzheimer's disease, unspecified (disorder), dementia of the alzheimer's type, dementia, alzheimer type, dementia, presenile, dementia, presenile alzheimer, disease, alzheimer, disease, alzheimer's, presenile alzheimer dementia, sporadic alzheimer's disease, [x]dementia in alzheimer's disease, [x]dementia in alzheimer's disease (disorder)

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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.; A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition [...]

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  22. amyotrophic lateral sclerosis als, lou gehrig's disease, motor neuron disease, bulbar

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    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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  23. 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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  24. amyotrophic lateral sclerosis als, als (amyotrophic lateral sclerosis), als - amyotrophic lateral sclerosis, amyotrophic lateral sclerosis, amyotrophic lateral sclerosis (disorder), amyotrophic lateral sclerosis with dementia, amyotrophic lateral sclerosis, guam form, amyotrophic lateral sclerosis, parkinsonism/dementia complex of guam, amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, amyotrophic sclerosis, bulbar motor neuron disease, charcot disease, dementia with amyotrophic lateral sclerosis, disease, lou-gehrigs, gehrig disease, gehrig's disease, gehrigs dis, gehrigs disease, guam form of amyotrophic lateral sclerosis, lateral scleroses, amyotrophic, lou gehrig dis, lou gehrig disease, lou gehrig's disease, lou gehrigs dis, lou gehrigs disease, lou-gehrigs disease, motor neuron dis amyotrophic lateral sclerosis, motor neuron disease, amyotrophic lateral sclerosis, motor neuron disease, bulbar, sclerosis, amyotrophic lateral

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    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.; A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 [...]

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  25. 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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  26. amyotrophic lateral sclerosis type 10 als10, amyotrophic lateral sclerosis 10, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia, tardbp-related frontotemporal lobar degeneration with tdp43 inclusions

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    An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.

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  27. 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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  28. anemia (phenotype)

    A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.

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  29. 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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  30. 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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  31. 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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  32. 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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  33. anti-social behavior

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  34. Aplastic anemia aplastic anaemia

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    Aplastic anemia is defined as pancytopenia with a hypocellular marrow.

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  35. 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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  36. 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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  37. arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular cardiomyopathy 5, arvc5, arvd5, familial arrhythmogenic right ventricular dysplasia 5

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    An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.

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  38. arrhythmogenic right ventricular dysplasia 9 arrhythmogenic right ventricular cardiomyopathy 9, arvc9, arvd9, familial arrhythmogenic right ventricular dysplasia 9

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

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  39. 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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  40. 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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  41. atrioventricular block av block

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    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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  42. 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 mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.; 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 [...]

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  43. 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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  44. 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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  45. 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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  46. 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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  47. Autism Spectrum Disorder

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  48. 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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    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 behaviors. (DSM, 1994); A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as [...]

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  49. autosomal dominant cerebellar ataxia spinocerebellar ataxia

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    A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.

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  50. 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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  51. autosomal dominant Parkinson disease 1

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  52. 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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  53. 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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  54. autosomal recessive osteopetrosis 4 infantile malignant osteopetrosis 2, optb4

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    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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  55. 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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  56. Bardet-Biedl syndrome bbs

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    Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

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  57. Becker muscular dystrophy benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

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    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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  58. Becker muscular dystrophy becker dystrophinopathy, becker muscular dystrophy, benign congenital myopathy, benign pseudohypertrophic muscular dystrophy, bmd

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    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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  59. bestrophinopathy autosomal recessive bestrophinopathy

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    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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  60. beta thalassemia

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

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  61. 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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  62. 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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  63. 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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  64. 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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  65. 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 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 swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).; A major affective disorder marked by severe mood [...]

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  66. 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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  67. Brugada syndrome bangungut, brugada type idiopathic ventricular fibrillation, dream disease, pokkuri death syndrome, sudden unexplained nocturnal death syndrome, sunds

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

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  68. 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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  69. 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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  70. Cardiomyopathy cardiomyopathy

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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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  71. 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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  72. 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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  73. 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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  74. 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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  75. Charcot-Marie-Tooth disease type 1 hereditary motor and sensory neuropathy type 1

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

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  76. 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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  77. 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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  78. cholestasis bile occlusion, obstruction of bile duct

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

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  79. chromosomal disease

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

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  80. chromosome 16p11.2 deletion syndrome distal 16p11.2 microdeletion syndrome

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    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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  81. 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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  82. 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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  83. 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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  84. 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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  85. congenital central hypoventilation syndrome cchs, central congenital hypoventilation syndrome, congenital central alveolar hypoventilation syndrome, ondine curse, ondine syndrome

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    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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  86. 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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  87. 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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  88. 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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  89. 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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  90. 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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  91. copper ion binding copper binding

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

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  92. corticobasal degeneration

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  93. creatine transporter deficiency cerebral creatine deficiency syndrome 1, slc6a8 deficiency

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    A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.

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  94. Crigler-Najjar syndrome bilirubin udp glucuronyl transferase deficiency, crigler najjar syndrome, crigler-najjar syndrome, type i

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    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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  95. 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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  96. 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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  97. 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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  98. cytochrome-c oxidase deficiency disease cytochrome-c oxidase deficiency, isolated cox deficiency, isolated mitochondrial respiratory chain complex iv deficiency, mitochondrial complex iv deficiency

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    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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  99. Danon disease antopol disease, pseudoglycogenosis ii

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    A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.

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  100. 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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  101. 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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  102. 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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  103. developmental and epileptic encephalopathy, 26 dee26, early infantile epileptic encephalopathy 26, early infantile epileptic encephalopathy caused by mutation in kcnb1, eiee26, epileptic encephalopathy, early infantile, 26, epileptic encephalopathy, early infantile, 26; eiee26, epileptic encephalopathy, early infantile, type 26, kcnb1 early infantile epileptic encephalopathy

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

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  104. developmental and epileptic encephalopathy, 46 dee46, early infantile epileptic encephalopathy caused by mutation in grin2d, eiee46, epileptic encephalopathy, early infantile, 46, epileptic encephalopathy, early infantile, 46; eiee46, epileptic encephalopathy, early infantile, type 46, grin2d early infantile epileptic encephalopathy

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

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  105. Developmental Delay delayed developmental milestones, developmental delay

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    Failure to meet, or late achievement of developmental milestones.

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

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  107. dilated cardiomyopathy

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  108. 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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  109. DMD

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  110. DMD

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  111. 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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  112. Down syndrome complete trisomy 21 syndrome, complete trisomy 21 syndrome (disorder), down syndrome, 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, 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 disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia); Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable [...]

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  113. Dravet syndrome dravet syndrome, ds

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    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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  114. 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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  115. 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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  116. Duchenne muscular dystrophy muscular dystrophy, duchenne

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    A muscular dystrophy that has_material_basis_in X-linked 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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  117. Duchenne muscular dystrophy

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  118. 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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  119. 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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  120. 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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  121. Emery-Dreifuss muscular dystrophy edmd

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

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  122. 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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  123. endocrine gland cancer endocrine neoplasm, endocrine tumor, malignant endocrine tumor, malignant neoplasm of endocrine gland, malignant tumour of endocrine gland, neoplasm of endocrine gland, neoplasm of endocrine system

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    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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  124. 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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  125. epidermolysis bullosa simplex epidermolysis bullosa simplex

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    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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  126. 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 disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal [...]

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  127. 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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  128. Fabry disease alpha galactosidase deficiency, alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, deficiency of melibiase, fabry's disease

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    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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  129. 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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  130. 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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  131. facioscapulohumeral muscular dystrophy landouzy dejerine muscular dystrophy, landouzy-dejerine muscular dystrophy, muscular dystrophy, landouzy-dejerine

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  132. facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy 1b, facioscapulohumeral muscular dystrophy type 2, fshd2

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    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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  133. factor VIII deficiency classic hemophilia a, congenital factor viii disorder, hemophilia a, subhemophilia

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    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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  134. familial adenomatous polyposis adenomatous polyposis of the colon

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    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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  135. 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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  136. familial hypercholesterolemia familial hyperbetalipoproteinaemia, familial hypercholesteremia, fredrickson type iia hyperlipoproteinemia, fredrickson type iia lipidaemia, hyperbetalipoproteinemia, type ii hyperlipidemia

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    A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.

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  137. 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; Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM); An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.

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  138. 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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  139. familial partial lipodystrophy type 2 familial lipodystrophy of limbs and lower trunk, familial partial lipodystrophy dunnigan type, fpld2, reverse partial lipodystrophy

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    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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  140. 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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  141. 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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  142. 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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  143. 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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  144. FG syndrome keller syndrome, opitz-kaveggia syndrome

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    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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  145. fibrodysplasia ossificans progressiva myositis ossificans progressiva, progressive myositis ossificans, progressive ossifying myositis, stone man syndrome

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    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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  146. Floating-Harbor syndrome flhs

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    A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2.

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  147. floating-Harbor syndrome floating-harbor syndrome

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    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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  148. 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 renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.; 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 [...]

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  149. 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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  150. 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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  151. 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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  152. 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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  153. 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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  154. 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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  155. 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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  156. 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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  157. 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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  158. glycogen storage disease glycogenosis

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    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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  159. Healthy healthy

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    Having no significant health-related issues.

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

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  161. 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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  162. hereditary multiple exostoses hereditary multiple exostoses 1, hereditary multiple exostoses 2, hereditary multiple exostoses 3, multiple congenital exostosis, multiple exostosis syndromes, multiple ostechondromas, osteochondromatosis syndrome

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    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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  163. Hereditary Spastic Paraplegia hereditary spastic paraplegia

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    Spastic paraplegia that is transmitted from parent to child.

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  164. 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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  165. 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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  166. 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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  167. 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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  168. 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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  169. 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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  170. hyperlipoproteinemia type IV endogenous hyperlipidaemia, familial hypertriglyceridemia, fredrickson type iv hyperlipoproteinemia, fredrickson type iv lipidaemia, fredrickson type iv lipidemia, vldl hyperlipoproteinemia

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  171. 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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  172. 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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  173. 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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  174. Hypertrophic cardiomyopathy

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  175. 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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  176. 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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  177. IGA glomerulonephritis berger disease, berger's disease, berger's iga or igg nephropathy, focal glomerulonephritis, glomerulonephritis, iga, iga glomerulonephritis, iga nephropathy, immunoglobulin a nephropathy, nephropathy, iga, primary iga nephropathy, segmental glomerulonephritis

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    Inflammation of a specific segment of glomeruli within the kidney.; 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.

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  178. 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, 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 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 malignancies secondary to transplantation.); A disorder resulting from an [...]

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  179. 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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  180. 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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  181. intellectual developmental disorder 61

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  182. 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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  183. 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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  184. 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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  185. 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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  186. 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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  187. 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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  188. 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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  189. 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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  190. 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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  191. 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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  192. Klinefelter syndrome 47, xxy, hypogonadotropic hypogonadism, klinefelter's syndrome, xxy syndrome, xxy trisomy

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    A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.

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  193. 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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  194. 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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  195. 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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  196. Leber congenital amaurosis lca, leber's amaurosis, leber's congenital amaurosis, leber's disease

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

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  197. 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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  198. 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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  199. 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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  200. limb-girdle muscular dystrophy erb's muscular dystrophy, leyden-mbius muscular dystrophy, limb girdle muscular dystrophy

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    A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.

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  201. 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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  202. 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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  203. 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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  204. long QT syndrome 1 lqt1, ventricular fibrillation with prolonged qt interval

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    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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  205. 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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  206. long QT syndrome 2 lqt2

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    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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  207. 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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  208. 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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  209. 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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  210. 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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  211. 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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  212. 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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  213. Meniere disease meniere disease, meniere's disease, mnire's vertigo, otogenic vertigo

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    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.; A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.

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  214. 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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  215. 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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  216. migraine disorder abdominal migraine, abdominal migraines, acute confusional migraine, acute confusional migraines, cervical migraine syndrome, cervical migraine syndromes, disorder, migraine, disorders, migraine, headache, migraine, headache, sick, headaches, migraine, headaches, sick, hemicrania migraine, hemicrania migraines, migraine, migraine disorder, migraine disorders, migraine headache, migraine headaches, migraine syndrome, cervical, migraine syndromes, cervical, migraine variant, migraine variants, migraine with or without aura, migraine, abdominal, migraine, acute confusional, migraine, hemicrania, migraines, migraines, abdominal, migraines, acute confusional, migraines, hemicrania, sick headache, sick headaches, status migrainosus, variant, migraine, variants, migraine

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    A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1); A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and [...]

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  217. Mild Cognitive Impairment

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  218. mitochondrial DNA depletion syndrome mtdna depletion syndrome

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    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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  219. 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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  220. 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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  221. 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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  222. 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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  223. 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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  224. multiple myeloma kahler disease, kahler's disease, medullary plasmacytoma, multiple myeloma, multiple myeloma/plasma cell myeloma, myeloid neoplasm of plasma cell, myeloma, plasma cell, malignant, plasma cell myeloid neoplasm

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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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  225. 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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  226. multiple sclerosis disseminated sclerosis, ms, ms (multiple sclerosis), multiple sclerosis, multiple sclerosis acute fulminating, multiple sclerosis, acute fulminating, sclerosis, disseminated, sclerosis, multiple

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    An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The [...]

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  227. 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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  228. 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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  229. 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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  230. 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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  231. myotonic disease

    A muscular dystrophy that is characterized by progressive muscle wasting and weakness.

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  232. myotonic dystrophy type 1 congenital myotonic dystrophy, dystrophia myotonica, myotonic dystrophy of steinert, steinert disease

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    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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  233. 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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  234. neurofibromatosis acoustic neurofibromatosis, central neurofibromatosis, peripheral neurofibromatosis, recklinghausen's neurofibromatosis, von reklinghausen disease

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  235. 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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  236. neurofibromatosis type 1 neurofibromatosis, neurofibromatosis 1, neurofibromatosis type 1, neurofibromatosis type 1 microdeletion syndrome, neurofibromatosis, type 1, nf1, peripheral neurofibromatosis, von recklinghausen disease, von reklinghausen disease

    Show synonyms

    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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  237. 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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  238. neuropathy

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

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  239. 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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  240. normal health, normalcy, normalities, normality

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

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