Diseases associated to hPSCreg cell lines
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47,XXX Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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4H leukodystrophy
Show synonymsOntology Lookup ServiceA 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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7q11.23 microduplication syndrome
Ontology Lookup ServiceAssociated cell lines:
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aceruloplasminemia
Ontology Lookup ServiceAceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Associated cell lines:
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Achromatopsia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Acromesomelic dysplasia
Ontology Lookup ServiceAssociated cell lines:
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Activated PI3K-delta syndrome
Show synonymsOntology Lookup ServiceA 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 lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and [...]
Associated cell lines:
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Acute lymphoblastic leukemia
Show synonymsOntology Lookup ServiceA form of acute leukemia characterized by excess lympoblasts.
Associated cell lines:
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Acute myeloid leukemia
Show synonymsOntology Lookup ServiceA form of leukemia characterized by overproduction of an early myeloid cell.
Associated cell lines:
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acute promyelocytic leukemia
Show synonymsOntology Lookup ServiceAn aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.; Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to [...]
Associated cell lines:
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ADNP syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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adrenoleukodystrophy
Ontology Lookup ServiceA leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Associated cell lines:
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Adrenoleukodystrophy
Show synonymsOntology Lookup ServiceA rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.
Associated cell lines:
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adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Ontology Lookup ServiceA 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.
Associated cell lines:
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age-related macular degeneration
Ontology Lookup Service -
Age-Related Macular Degeneration
Show synonymsOntology Lookup ServiceAge-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
Associated cell lines:
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age-related macular degeneration
Show synonymsOntology Lookup ServiceAge-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.; 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.
Associated cell lines:
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Allan-Herndon-Dudley Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Alpha-1 Antitrypsin Deficiency
Show synonymsOntology Lookup ServiceA genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.
Associated cell lines:
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Alpha-1-antitrypsin deficiency
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Alport Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Alport syndrome
Show synonymsOntology Lookup ServiceA 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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Alzheimer disease
Ontology Lookup ServiceAssociated cell lines:
- BIONi010-C-17
- BIONi010-C-2
- BIONi010-C-25
- BIONi010-C-3
- BIONi010-C-4
- BIONi010-C-5
- BIONi010-C-6
- BIONi010-C-7
- BIONi010-C-8
- BIONi010-C-9
- BIONi037-A-1
- BIONi037-A-2
- BIONi037-A-3
- BIONi037-A-4
- SPPHIi004-A
- STBCi006-A
- STBCi006-A-1
- STBCi006-A-3
- STBCi006-A-4
- STBCi009-A
- STBCi009-B
- STBCi009-C
- STBCi010-A
- STBCi011-A
- STBCi011-B
- STBCi011-C
- STBCi012-A
- STBCi012-B
- STBCi012-C
- STBCi013-A
- STBCi013-B
- STBCi014-A
- STBCi014-B
- STBCi014-C
- STBCi015-A
- STBCi015-B
- STBCi015-C
- STBCi016-A
- STBCi016-B
- STBCi016-C
- STBCi032-A
- STBCi032-B
- STBCi045-A
- STBCi045-B
- STBCi045-C
- STBCi047-A
- STBCi047-B
- STBCi051-A
- STBCi051-B
- STBCi051-C
- STBCi061-A
- STBCi062-A
- STBCi065-A
- STBCi071-A
- STBCi071-B
- STBCi071-C
- STBCi072-A
- STBCi072-B
- STBCi072-C
- STBCi077-A
- STBCi077-B
- STBCi077-C
- STBCi097-A
- STBCi097-B
- STBCi097-C
- STBCi099-A
- STBCi099-B
- STBCi134-A
- STBCi143-A
- STBCi254-A
- STBCi256-A
- STBCi264-A
- STBCi269-A
- STBCi270-A
- STBCi271-A
- STBCi272-A
- STBCi273-A
- STBCi274-A
- STBCi275-A
- STBCi276-A
- STBCi277-A
- STBCi284-A
- STBCi285-A
- STBCi286-A
- STBCi287-A
- STBCi299-A
- STBCi300-A
- STBCi301-A
- STBCi302-A
- STBCi312-A
- STBCi313-A
- STBCi314-A
- STBCi315-A
- UKBi011-A
- UKBi011-A-1
- UKBi011-A-2
- UKBi011-A-3
- UKBi011-A-4
- UMi038-A
- UMi038-A-1
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Alzheimer disease 3
Ontology Lookup ServiceAlzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.
Associated cell lines:
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Alzheimer disease 4
Ontology Lookup ServiceAlzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
Associated cell lines:
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Alzheimer's disease
Ontology Lookup ServiceA tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the [...]
Associated cell lines:
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Alzheimer's Disease
Show synonymsOntology Lookup ServiceA 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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amyotrophic lateral sclerosis
Ontology Lookup ServiceA 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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Amyotrophic Lateral Sclerosis
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Amyotrophic lateral sclerosis
Show synonymsOntology Lookup ServiceA neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Associated cell lines:
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Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia
Show synonymsOntology Lookup ServiceAn autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the TARDBP gene, encoding TAR DNA-binding protein 43.
Associated cell lines:
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amyotrophic lateral sclerosis type 10
Ontology Lookup ServiceAn amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
Associated cell lines:
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Androgen insensitivity syndrome
Show synonymsOntology Lookup ServiceA 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).
Associated cell lines:
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anemia (phenotype)
Ontology Lookup ServiceA reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.
Associated cell lines:
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Aneuploidy
Show synonymsOntology Lookup ServiceA chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24).
Associated cell lines:
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Angelman Syndrome
Show synonymsOntology Lookup ServiceA genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.
Associated cell lines:
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Aniridia
Show synonymsOntology Lookup ServiceA rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.
Associated cell lines:
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Ankylosing Spondylitis
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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ankylosing spondylitis
Show synonymsOntology Lookup ServiceAn 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 [...]
Associated cell lines:
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anti-social behavior
Ontology Lookup Service -
Aortic Dissection
Show synonymsOntology Lookup ServiceA progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media.
Associated cell lines:
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Aplastic anemia
Show synonymsOntology Lookup ServiceAplastic anemia is defined as pancytopenia with a hypocellular marrow.
Associated cell lines:
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Arrhythmia
Show synonymsOntology Lookup ServiceAny variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.
Associated cell lines:
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arrhythmogenic right ventricular cardiomyopathy
Ontology Lookup ServiceAn intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
Associated cell lines:
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Arrhythmogenic right ventricular cardiomyopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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arrhythmogenic right ventricular dysplasia 5
Ontology Lookup ServiceAn arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.
Associated cell lines:
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arrhythmogenic right ventricular dysplasia 9
Ontology Lookup ServiceAn arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.
Associated cell lines:
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atopic eczema
Show synonymsOntology Lookup ServiceA 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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Atrial Fibrillation
Show synonymsOntology Lookup ServiceA 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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atrioventricular block
Ontology Lookup ServiceA heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
Associated cell lines:
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attention deficit hyperactivity disorder
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Auditory Neuropathy Spectrum Disorder
Show synonymsOntology Lookup ServiceA hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.
Associated cell lines:
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Autism
Show synonymsOntology Lookup ServiceAutism 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 [...]
Associated cell lines:
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Autism
Show synonymsOntology Lookup ServiceA 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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autism spectrum disorder
Ontology Lookup ServiceA 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.
Associated cell lines:
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Autism Spectrum Disorder
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Autism Spectrum Disorder
Ontology Lookup Service -
autism spectrum disorder
Show synonymsOntology Lookup ServiceA pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior.; Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech [...]
Associated cell lines:
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autosomal dominant cerebellar ataxia
Ontology Lookup ServiceA cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
Associated cell lines:
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Autosomal Dominant Optic Atrophy
Show synonymsOntology Lookup ServiceAn autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.
Associated cell lines:
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Autosomal dominant optic atrophy plus syndrome
Show synonymsOntology Lookup ServiceA rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.
Associated cell lines:
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autosomal dominant Parkinson disease 1
Ontology Lookup ServiceAssociated cell lines:
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Autosomal Dominant Polycystic Kidney Disease
Show synonymsOntology Lookup ServicePolycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts.
Associated cell lines:
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Autosomal dominant polycystic kidney disease
Show synonymsOntology Lookup ServiceAutosomal 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.
Associated cell lines:
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Autosomal Dominant Torsion Dystonia 1
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Autosomal Recessive Osteopetrosis
Show synonymsOntology Lookup ServiceAn autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some [...]
Associated cell lines:
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autosomal recessive osteopetrosis 4
Ontology Lookup ServiceAn osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.
Associated cell lines:
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Autosomal Recessive Polycystic Kidney Disease
Show synonymsOntology Lookup ServicePolycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6.
Associated cell lines:
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Bardet-Biedl Syndrome
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Bardet-Biedl syndrome
Show synonymsOntology Lookup ServiceA rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.
Associated cell lines:
- WTSIi033-A
- WTSIi034-A
- WTSIi035-A
- WTSIi036-A
- WTSIi147-A
- WTSIi148-A
- WTSIi149-A
- WTSIi150-A
- WTSIi151-A
- WTSIi152-A
- WTSIi153-A
- WTSIi154-A
- WTSIi155-A
- WTSIi156-A
- WTSIi157-A
- WTSIi158-A
- WTSIi159-A
- WTSIi160-A
- WTSIi161-A
- WTSIi162-A
- WTSIi163-A
- WTSIi164-A
- WTSIi165-A
- WTSIi166-A
- WTSIi167-A
- WTSIi399-A
- WTSIi399-B
- WTSIi402-A
- WTSIi402-B
- WTSIi403-A
- WTSIi403-B
- WTSIi405-A
- WTSIi405-B
- WTSIi406-A
- WTSIi407-A
- WTSIi407-B
- WTSIi414-A
- WTSIi414-B
- WTSIi415-A
- WTSIi415-B
- WTSIi419-A
- WTSIi420-A
- WTSIi420-B
- WTSIi422-A
- WTSIi422-B
- WTSIi426-A
- WTSIi452-A
- WTSIi452-B
- WTSIi457-A
- WTSIi457-B
- WTSIi458-A
- WTSIi458-B
- WTSIi465-A
- WTSIi465-B
- WTSIi478-A
- WTSIi485-A
- WTSIi485-B
- WTSIi495-A
- WTSIi495-B
- WTSIi573-A
- WTSIi573-B
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Barth Syndrome
Show synonymsOntology Lookup ServiceA rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.
Associated cell lines:
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Becker muscular dystrophy
Ontology Lookup ServiceA 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.
Associated cell lines:
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Becker muscular dystrophy
Ontology Lookup ServiceBecker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
Associated cell lines:
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Becker muscular dystrophy
Show synonymsOntology Lookup ServiceA rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
Associated cell lines:
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Benign familial infantile epilepsy
Show synonymsOntology Lookup ServiceBenign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
Associated cell lines:
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bestrophinopathy
Ontology Lookup ServiceA 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.
Associated cell lines:
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beta thalassemia
Ontology Lookup ServiceA thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
Associated cell lines:
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Beta-propeller protein-associated neurodegeneration
Show synonymsOntology Lookup ServiceBeta-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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Beta-thalassemia
Ontology Lookup ServiceBeta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
Associated cell lines:
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Bilateral Frontoparietal Polymicrogyria
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Bilateral striopallidodentate calcinosis
Show synonymsOntology Lookup ServiceBilateral 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.
Associated cell lines:
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Bipolar Disorder
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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bipolar disorder
Show synonymsOntology Lookup ServiceA major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.; 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 [...]
Associated cell lines:
- EDi010-A
- EDi010-B
- EDi011-A
- EDi011-B
- EDi011-C
- EDi018-A
- EDi018-B
- EDi018-C
- KGUi001-A
- KGUi002-A
- STBCi068-A
- STBCi068-B
- STBCi068-C
- STBCi075-A
- STBCi075-B
- STBCi075-C
- STBCi076-A
- STBCi081-A
- STBCi081-B
- STBCi081-C
- STBCi091-A
- STBCi091-B
- STBCi091-C
- STBCi111-A
- STBCi112-A
- STBCi113-A
- STBCi114-A
- STBCi118-A
- STBCi125-A
- STBCi130-A
- STBCi135-A
- STBCi136-A
- STBCi145-A
- STBCi146-A
- STBCi147-A
- STBCi148-A
- STBCi149-A
- STBCi150-A
- STBCi151-A
- STBCi152-A
- STBCi153-A
- STBCi154-A
- STBCi155-A
- STBCi167-A
- STBCi168-A
- STBCi169-A
- STBCi170-A
- STBCi171-A
- STBCi172-A
- STBCi173-A
- STBCi174-A
- STBCi208-A
- STBCi209-A
- STBCi210-A
- STBCi211-A
- STBCi212-A
- STBCi249-A
- TUSMi005-A
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Birt-Hogg-Dube Syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Breast Carcinoma
Show synonymsOntology Lookup ServiceA carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by [...]
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Brugada syndrome
Ontology Lookup ServiceA heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Associated cell lines:
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Brugada Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Brugada syndrome
Show synonymsOntology Lookup ServiceA 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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Brugada syndrome 1
Ontology Lookup ServiceA Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.
Associated cell lines:
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Cardiomyopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Cardiotoxicity
Show synonymsOntology Lookup ServiceToxicity 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.
Associated cell lines:
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Catecholaminergic polymorphic ventricular tachycardia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Central Hypothyroidism
Show synonymsOntology Lookup ServiceAbnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis.
Associated cell lines:
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Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Show synonymsOntology Lookup ServiceCADASIL (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.
Associated cell lines:
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Cerebral Cavernous Malformation
Show synonymsOntology Lookup ServiceA disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.
Associated cell lines:
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cerebrovascular disease
Ontology Lookup ServiceAn vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
Associated cell lines:
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Cernunnos-XLF deficiency
Show synonymsOntology Lookup ServiceCernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
Associated cell lines:
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cervical artery dissection
Show synonymsOntology Lookup Servicea tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.; A tear within the wall of any of the [...]
Associated cell lines:
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Charcot-Marie-Tooth Disease
Show synonymsOntology Lookup ServiceAn inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.
Associated cell lines:
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Charcot-Marie-Tooth disease type 1
Ontology Lookup ServiceA Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
Associated cell lines:
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Charcot-Marie-Tooth disease type 2
Ontology Lookup ServiceAssociated cell lines:
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CHARGE Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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childhood acute myeloid leukemia
Show synonymsOntology Lookup ServiceAcute myeloid leukemia occurring in childhood.
Associated cell lines:
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cholestasis
Ontology Lookup ServiceA bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
Associated cell lines:
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chromosomal disease
Ontology Lookup ServiceA genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
Associated cell lines:
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chromosome 16p11.2 deletion syndrome
Ontology Lookup ServiceA 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.
Associated cell lines:
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Chronic Lymphocytic Leukemia
Show synonymsOntology Lookup ServiceThe most common type of chronic lymphoid leukemia. It comprises 90% of chronic lymphoid leukemias in the United States. Morphologically, the neoplastic cells are small, round B-lymphocytes. This type of leukemia is not considered to be curable with available therapy. (WHO, 2001)
Associated cell lines:
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Chronic myeloid leukemia
Show synonymsOntology Lookup ServiceChronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.
Associated cell lines:
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Class 3 Obesity
Show synonymsOntology Lookup ServiceBody mass index (BMI) greater than 40.
Associated cell lines:
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Clubfoot
Show synonymsOntology Lookup ServiceThe 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.
Associated cell lines:
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Coffin-Siris Syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Cognitive Debriefing
Show synonymsOntology Lookup ServiceThe 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.
Associated cell lines:
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combined oxidative phosphorylation deficiency 23
Ontology Lookup ServiceA combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11.
Associated cell lines:
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Congenital Cataract
Show synonymsOntology Lookup ServiceCataract that is present at birth.
Associated cell lines:
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congenital central hypoventilation syndrome
Ontology Lookup ServiceAn 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.
Associated cell lines:
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Congenital contractural arachnodactyly
Show synonymsOntology Lookup ServiceCongenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Associated cell lines:
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Congenital Heart Disease
Show synonymsOntology Lookup ServiceA heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.
Associated cell lines:
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congenital heart disease
Show synonymsOntology Lookup Serviceany 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.
Associated cell lines:
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Congenital muscular dystrophy due to LMNA mutation
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Congenital Myasthenic Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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copper ion binding
Ontology Lookup ServiceInteracting selectively and non-covalently with copper (Cu) ions.
Associated cell lines:
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Cornelia De Lange Syndrome
Show synonymsOntology Lookup ServiceA rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
Associated cell lines:
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Coronary Slow Flow Phenomenon
Show synonymsOntology Lookup ServiceAn angiographic finding characterized by delayed progression of contrast medium into distal epicardial vessels in the absence of significant coronary artery disease.
Associated cell lines:
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corticobasal degeneration
Ontology Lookup ServiceAssociated cell lines:
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creatine transporter deficiency
Ontology Lookup ServiceA 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.
Associated cell lines:
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Crigler-Najjar syndrome
Ontology Lookup ServiceA 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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CTNNB1 Gene Mutation
Show synonymsOntology Lookup ServiceA change in the nucleotide sequence of the CTNNB1 gene.
Associated cell lines:
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Cystic Fibrosis
Show synonymsOntology Lookup ServiceA 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, [...]
Associated cell lines:
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Cystic fibrosis
Show synonymsOntology Lookup ServiceA rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.
Associated cell lines:
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cytochrome-c oxidase deficiency disease
Ontology Lookup ServiceA 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.
Associated cell lines:
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Danon disease
Ontology Lookup ServiceA lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
Associated cell lines:
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Deafness, Autosomal Recessive 1A
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Dentatorubral pallidoluysian atrophy
Show synonymsOntology Lookup ServiceA rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Associated cell lines:
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Desminopathy
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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developmental and epileptic encephalopathy
Ontology Lookup ServiceAssociated cell lines:
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developmental and epileptic encephalopathy 31
Ontology Lookup ServiceAssociated cell lines:
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developmental and epileptic encephalopathy, 26
Ontology Lookup ServiceAny early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.
Associated cell lines:
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developmental and epileptic encephalopathy, 28
Ontology Lookup ServiceAny early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.
Associated cell lines:
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developmental and epileptic encephalopathy, 46
Ontology Lookup ServiceAny early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.
Associated cell lines:
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Developmental Delay
Show synonymsOntology Lookup ServiceFailure to meet, or late achievement of developmental milestones.
Associated cell lines:
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Diabetes Mellitus
Show synonymsOntology Lookup ServiceA metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
Associated cell lines:
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diabetes mellitus
Show synonymsOntology Lookup ServiceA metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.; A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
Associated cell lines:
- RCSIi002-A
- RCSIi005-A
- STBCi020-A
- STBCi020-B
- STBCi038-A
- STBCi038-B
- STBCi038-C
- STBCi048-A
- STBCi048-B
- STBCi048-C
- STBCi054-A
- STBCi054-B
- STBCi058-A
- STBCi058-B
- STBCi058-C
- STBCi069-A
- STBCi069-B
- STBCi069-C
- STBCi070-A
- STBCi070-B
- STBCi073-A
- STBCi073-B
- STBCi074-A
- STBCi074-B
- STBCi074-C
- STBCi078-A
- STBCi078-B
- STBCi078-C
- STBCi079-A
- STBCi079-B
- STBCi079-C
- STBCi080-A
- STBCi080-B
- STBCi080-C
- STBCi082-A
- STBCi082-B
- STBCi082-C
- STBCi092-A
- STBCi092-B
- STBCi092-C
- STBCi093-A
- STBCi093-B
- STBCi103-A
- STBCi108-A
- STBCi119-A
- STBCi120-A
- STBCi121-A
- STBCi123-A
- STBCi128-A
- STBCi131-A
- STBCi132-A
- STBCi133-A
- STBCi142-A
- STBCi175-A
- STBCi176-A
- STBCi177-A
- STBCi178-A
- STBCi179-A
- STBCi180-A
- STBCi186-A
- STBCi187-A
- STBCi188-A
- STBCi189-A
- STBCi190-A
- STBCi191-A
- STBCi192-A
- STBCi193-A
- STBCi194-A
- STBCi199-A
- STBCi200-A
- STBCi201-A
- STBCi202-A
- STBCi203-A
- STBCi204-A
- STBCi205-A
- STBCi206-A
- STBCi207-A
- STBCi215-A
- STBCi216-A
- STBCi217-A
- STBCi218-A
- STBCi219-A
- STBCi220-A
- STBCi221-A
- STBCi222-A
- STBCi252-A
- STBCi316-A
- STBCi317-A
- STBCi318-A
- STBCi319-A
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dilated cardiomyopathy
Ontology Lookup ServiceAssociated cell lines:
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Dilated Cardiomyopathy
Show synonymsOntology Lookup ServiceCardiomyopathy 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.
Associated cell lines:
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dilated cardiomyopathy
Show synonymsOntology Lookup ServiceA form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.; An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.; Cardiomyopathy which is characterized by [...]
Associated cell lines:
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Donnai-Barrow syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Down syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Dravet syndrome
Ontology Lookup ServiceDravet 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.
Associated cell lines:
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Dravet syndrome
Show synonymsOntology Lookup ServiceA rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
Associated cell lines:
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drug-induced liver injury
Show synonymsOntology Lookup ServiceA 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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Duchenne muscular dystrophy
Ontology Lookup ServiceA 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.
Associated cell lines:
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Duchenne muscular dystrophy
Ontology Lookup ServiceDuchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Associated cell lines:
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Duchenne Muscular Dystrophy
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Duchenne muscular dystrophy
Show synonymsOntology Lookup ServiceA rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Associated cell lines:
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Dyskeratosis Congenita
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Ehlers-Danlos Syndrome
Show synonymsOntology Lookup ServiceAn inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.
Associated cell lines:
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Emery-Dreifuss muscular dystrophy
Ontology Lookup ServiceA muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
Associated cell lines:
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Emery-Dreifuss Muscular Dystrophy
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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endocrine gland cancer
Ontology Lookup ServiceAn organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
Associated cell lines:
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Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Show synonymsOntology Lookup ServiceAn autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.
Associated cell lines:
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epidermolysis bullosa simplex
Ontology Lookup ServiceAn 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.
Associated cell lines:
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epilepsy
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Epileptic encephalopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Fabry disease
Ontology Lookup ServiceA 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.
Associated cell lines:
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Fabry Disease
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Facioscapulohumeral dystrophy
Show synonymsOntology Lookup ServiceA rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
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facioscapulohumeral muscular dystrophy
Ontology Lookup ServiceAssociated cell lines:
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facioscapulohumeral muscular dystrophy 2
Ontology Lookup ServiceA 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.
Associated cell lines:
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factor VIII deficiency
Ontology Lookup ServiceA 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.
Associated cell lines:
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familial adenomatous polyposis
Ontology Lookup ServiceAn 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.
Associated cell lines:
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Familial Dysautonomia
Show synonymsOntology Lookup ServiceA congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
Associated cell lines:
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familial hypercholesterolemia
Ontology Lookup ServiceAssociated cell lines:
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familial hypercholesterolemia
Show synonymsOntology Lookup ServiceFamilial hypercholesterolaemia is an autosomal inherited disorder characterized by markedly elevated LDL-cholesterol levels and an increased risk of premature atherosclerotic cardiovascular disease; An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.; Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)
Associated cell lines:
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Familial long QT syndrome
Show synonymsOntology Lookup ServiceA 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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familial partial lipodystrophy type 2
Ontology Lookup ServiceA 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.
Associated cell lines:
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Familial platelet disorder with associated myeloid malignancy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Familial progressive cardiac conduction defect
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Fanconi anemia
Show synonymsOntology Lookup ServiceA 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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Fanconi-Bickel syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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fetal and neonatal alloimmune thrombocytopenia
Ontology Lookup ServiceAssociated cell lines:
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FG syndrome
Ontology Lookup ServiceA 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.
Associated cell lines:
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fibrodysplasia ossificans progressiva
Ontology Lookup ServiceA 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.
Associated cell lines:
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Floating-Harbor syndrome
Ontology Lookup ServiceAssociated cell lines:
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floating-Harbor syndrome
Ontology Lookup ServiceFloating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Associated cell lines:
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focal segmental glomerulosclerosis
Show synonymsOntology Lookup ServiceA 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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Fragile X Syndrome
Show synonymsOntology Lookup ServiceA 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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Fragile X syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Friedreich Ataxia
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Frontotemporal Dementia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Frontotemporal dementia
Show synonymsOntology Lookup ServiceFrontotemporal 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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Gabriele-de Vries syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Gaucher disease
Show synonymsOntology Lookup ServiceGaucher 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).
Associated cell lines:
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Gaucher disease type 3
Show synonymsOntology Lookup ServiceGaucher 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).
Associated cell lines:
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Generalized Epilepsy
Show synonymsOntology Lookup ServiceA chronic condition characterised by recurrent generalised seizures.
Associated cell lines:
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Gitelman Syndrome
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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glycogen storage disease
Ontology Lookup ServiceA 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.
Associated cell lines:
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GNB5-related intellectual disability-cardiac arrhythmia syndrome
Ontology Lookup ServiceA rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
Associated cell lines:
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Healthy
Show synonymsOntology Lookup ServiceHaving no significant health-related issues.
Associated cell lines:
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Hearing Loss
Show synonymsOntology Lookup ServiceA partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.
Associated cell lines:
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heart disease
Show synonymsOntology Lookup ServiceA disease involving the heart and/or pericardium.; Pathological conditions involving the HEART including its structural and functional abnormalities.
Associated cell lines:
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Heart Failure
Show synonymsOntology Lookup ServiceInability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.
Associated cell lines:
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hematologic disease
Show synonymsOntology Lookup ServiceA disease involving the hematopoietic system.; Disorders of the blood and blood forming tissues.
Associated cell lines:
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Hemophilia B
Show synonymsOntology Lookup ServiceAn X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.
Associated cell lines:
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Hepatocellular Carcinoma
Show synonymsOntology Lookup ServiceA malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic [...]
Associated cell lines:
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Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes
Show synonymsOntology Lookup ServiceMonogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.
Associated cell lines:
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Hepatolenticular Degeneration
Show synonymsOntology Lookup ServiceA rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.
Associated cell lines:
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Hereditary Hemorrhagic Telangiectasia
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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hereditary multiple exostoses
Ontology Lookup ServiceAn 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.
Associated cell lines:
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Hereditary Retinal Dystrophy
Show synonymsOntology Lookup ServiceAn inherited form of retinal dystrophy.
Associated cell lines:
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Hereditary Spastic Paraplegia
Show synonymsOntology Lookup ServiceSpastic paraplegia that is transmitted from parent to child.
Associated cell lines:
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Hereditary spastic paraplegia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Herpes Simplex Encephalitis
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Holt-Oram Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Huntington disease
Show synonymsOntology Lookup ServiceHuntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Associated cell lines:
- CHDIi001-A
- CHDIi002-A
- CHDIi003-A
- CHDIi005-A
- CHDIi006-A
- CHDIi008-A
- CHDIi010-A
- CHDIi011-A
- CHDIi017-A
- CHDIi018-A
- CHDIi019-A
- CHDIi020-A
- CHDIi021-A
- CHDIi022-A
- CHDIi026-A
- CHDIi028-A
- CHDIi029-A
- CHDIi031-A
- CHDIi033-A
- CHDIi034-A
- CHDIi035-A
- CHDIi036-A
- CHDIi038-A
- CHDIi040-A
- CHDIi041-A
- CHDIi045-A
- CHDIi046-A
- CHDIi048-A
- CHDIi049-A
- CHDIi055-A
- CSSi004-A
- CSSi006-A
- GENEAe013-A
- GENEAe015-A
- GENEAe018-A
- GENEAe019-A
- ICGi007-A
- ICGi033-A
- ICGi033-B
- ICGi033-C
- INSRMe003-A
- KCLe009-A
- KCLe010-A
- RCi004-A
- RCi004-B
- RCPCMi002-A
- RGIe091-A
- RGIe092-A
- RGIe098-A
- VUBe005-A
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Huntington's Disease
Show synonymsOntology Lookup ServiceA 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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Hutchinson-Gilford progeria syndrome
Show synonymsOntology Lookup ServiceHutchinson-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 [...]
Associated cell lines:
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hyperinsulinemic hypoglycemia
Show synonymsOntology Lookup ServiceA carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.; An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene [...]
Associated cell lines:
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hyperlipoproteinemia type IV
Ontology Lookup ServiceAssociated cell lines:
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Hyperlipoproteinemia, Type IIa
Show synonymsOntology Lookup ServiceAn autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.
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Hypertension
Show synonymsOntology Lookup ServiceBlood pressure that is abnormally high.
Associated cell lines:
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Hypertrophic cardiomyopathy
Show synonymsOntology Lookup ServiceHypertrophic 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.
Associated cell lines:
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Hypertrophic Cardiomyopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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hypertrophic cardiomyopathy
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Hypomyelination with atrophy of basal ganglia and cerebellum
Show synonymsOntology Lookup ServiceA rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
Associated cell lines:
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Hypophosphatasia
Show synonymsOntology Lookup ServiceA rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.
Associated cell lines:
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Hypoplastic left heart syndrome
Show synonymsOntology Lookup ServiceA 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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IGA glomerulonephritis
Show synonymsOntology Lookup ServiceInflammation 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.
Associated cell lines:
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immune system disease
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Immunodeficiency
Show synonymsOntology Lookup ServiceA disorder in which the immune system is unable to mount an adequate immune response.
Associated cell lines:
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Infertility
Show synonymsOntology Lookup ServiceInability to produce live offspring.
Associated cell lines:
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inflammatory disease
Show synonymsOntology Lookup ServiceA disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ]; A disease involving a pathogenic inflammatory response in the anatomical structure.
Associated cell lines:
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intellectual developmental disorder 61
Ontology Lookup ServiceAssociated cell lines:
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Intellectual disability
Show synonymsOntology Lookup ServiceSubnormal 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.
Associated cell lines:
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Intellectual Disability
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Intermediate epidermolysis bullosa simplex with cardiomyopathy
Show synonymsOntology Lookup ServiceA rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular [...]
Associated cell lines:
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Joubert syndrome
Show synonymsOntology Lookup ServiceA 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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Juvenile amyotrophic lateral sclerosis
Show synonymsOntology Lookup ServiceJuvenile 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.
Associated cell lines:
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Juvenile Huntington disease
Show synonymsOntology Lookup ServiceJuvenile 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.
Associated cell lines:
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Juvenile Myelomonocytic Leukemia
Show synonymsOntology Lookup ServiceA 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)
Associated cell lines:
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Kabuki Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Kabuki syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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karyomegalic interstitial nephritis
Ontology Lookup ServiceAssociated cell lines:
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Keipert syndrome
Show synonymsOntology Lookup ServiceA rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have [...]
Associated cell lines:
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Keratoconjunctivitis sicca
Show synonymsOntology Lookup ServiceDryness 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.
Associated cell lines:
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Kleefstra Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Klinefelter syndrome
Ontology Lookup ServiceA chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
Associated cell lines:
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Klinefelter's syndrome
Show synonymsOntology Lookup ServiceA form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype [...]
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Krabbe disease
Show synonymsOntology Lookup ServiceA 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).
Associated cell lines:
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laminin alpha 2-related dystrophy
Show synonymsOntology Lookup ServiceLlaminin 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.
Associated cell lines:
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Leber congenital amaurosis
Ontology Lookup ServiceA retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
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Leber Congenital Amaurosis
Show synonymsOntology Lookup ServiceA congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment.
Associated cell lines:
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Leber hereditary optic neuropathy
Ontology Lookup ServiceAssociated cell lines:
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Left ventricular noncompaction cardiomyopathy
Show synonymsOntology Lookup ServiceLeft 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.
Associated cell lines:
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Leigh syndrome
Show synonymsOntology Lookup ServiceA progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
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Lennox-Gastaut Syndrome
Show synonymsOntology Lookup ServiceA syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems.
Associated cell lines:
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Lethal brain and heart developmental defects
Ontology Lookup ServiceA rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.
Associated cell lines:
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Leukemia
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Leukodystrophy
Show synonymsOntology Lookup ServiceA group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and [...]
Associated cell lines:
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Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Show synonymsOntology Lookup ServiceThis disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Associated cell lines:
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limb-girdle muscular dystrophy
Ontology Lookup ServiceA muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
Associated cell lines:
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Limb-Girdle Muscular Dystrophy Type 2B
Show synonymsOntology Lookup ServiceAn 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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Lissencephaly
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Loeys-Dietz syndrome 3
Ontology Lookup ServiceAssociated cell lines:
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Loeys-Dietz syndrome 5
Ontology Lookup ServiceAssociated cell lines:
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Long QT Syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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long QT syndrome 1
Ontology Lookup ServiceA 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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Long QT Syndrome 1
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
- LUMCi039-A
- MRIi005-A
- NUIGi005-A
- NUIGi005-B
- NUIGi005-C
- NUIGi006-A
- NUIGi006-B
- NUIGi006-C
- NUIGi007-A
- NUIGi007-B
- NUIGi008-A
- NUIGi008-B
- NUIGi008-C
- NUIGi009-A
- NUIGi009-B
- NUIGi009-C
- NUIGi010-A
- NUIGi010-B
- NUIGi010-C
- NUIGi011-A
- NUIGi011-B
- NUIGi011-C
- TAUi006-A
- TAUi006-B
- TAUi007-A
- TAUi007-B
- WAe009-A-62
- WAe009-A-79
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long QT syndrome 2
Ontology Lookup ServiceA long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.
Associated cell lines:
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Long QT Syndrome 2
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Long QT Syndrome 3
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Long QT Syndrome 8
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Lujan-Fryns syndrome
Show synonymsOntology Lookup ServiceThe 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.
Associated cell lines:
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macular corneal dystrophy
Ontology Lookup ServiceA corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
Associated cell lines:
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macular degeneration
Ontology Lookup ServiceA retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
Associated cell lines:
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Marfan Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Marfan syndrome
Show synonymsOntology Lookup ServiceMarfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
Associated cell lines:
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maturity-onset diabetes of the young type 10
Ontology Lookup ServiceA maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.
Associated cell lines:
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Meester-Loeys syndrome
Ontology Lookup ServiceAssociated cell lines:
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Meniere disease
Show synonymsOntology Lookup ServiceA vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.; A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.
Associated cell lines:
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Mental Retardation
Show synonymsOntology Lookup ServiceA developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18.
Associated cell lines:
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Mental Retardation, Autosomal Dominant 39
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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migraine disorder
Ontology Lookup ServiceAssociated cell lines:
- STBCi027-A
- STBCi027-B
- STBCi028-A
- STBCi028-B
- STBCi028-C
- STBCi029-A
- STBCi029-B
- STBCi030-A
- STBCi030-B
- STBCi031-A
- STBCi031-B
- STBCi031-C
- STBCi034-A
- STBCi034-B
- STBCi046-A
- STBCi046-B
- STBCi055-A
- STBCi055-B
- STBCi055-C
- STBCi141-A
- STBCi253-A
- STBCi255-A
- STBCi257-A
- STBCi260-A
- STBCi261-A
- STBCi262-A
- STBCi263-A
- STBCi311-A
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Mild Cognitive Impairment
Ontology Lookup ServiceAssociated cell lines:
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MIRAGE syndrome
Show synonymsOntology Lookup ServiceA rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted [...]
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mitochondrial DNA depletion syndrome
Ontology Lookup ServiceA 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.
Associated cell lines:
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Mitochondrial DNA depletion syndrome, myopathic form
Show synonymsOntology Lookup ServiceA form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.
Associated cell lines:
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MODY
Show synonymsOntology Lookup ServiceMODY (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.
Associated cell lines:
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monogenic diabetes
Show synonymsOntology Lookup ServiceMonogenic 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.
Associated cell lines:
- WTSIi192-A
- WTSIi193-A
- WTSIi194-A
- WTSIi195-A
- WTSIi195-B
- WTSIi196-A
- WTSIi197-A
- WTSIi198-A
- WTSIi199-A
- WTSIi200-A
- WTSIi201-A
- WTSIi202-A
- WTSIi203-A
- WTSIi204-A
- WTSIi204-B
- WTSIi205-A
- WTSIi396-A
- WTSIi398-A
- WTSIi400-A
- WTSIi401-A
- WTSIi408-A
- WTSIi408-B
- WTSIi409-A
- WTSIi410-A
- WTSIi410-B
- WTSIi416-A
- WTSIi416-B
- WTSIi417-A
- WTSIi417-B
- WTSIi424-A
- WTSIi424-B
- WTSIi428-A
- WTSIi430-A
- WTSIi430-B
- WTSIi431-A
- WTSIi436-A
- WTSIi438-A
- WTSIi439-A
- WTSIi444-A
- WTSIi445-A
- WTSIi475-A
- WTSIi475-B
- WTSIi477-A
- WTSIi635-A
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monogenic disease
Ontology Lookup ServiceA genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
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Monosomy 22q13.3
Show synonymsOntology Lookup ServiceMonosomy 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.
Associated cell lines:
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Moyamoya Disease
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Mucopolysaccharidosis II
Ontology Lookup ServiceAssociated cell lines:
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multiple myeloma
Show synonymsOntology Lookup ServiceA 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)
Associated cell lines:
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Multiple Osteochondromas
Show synonymsOntology Lookup ServiceAn autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma.
Associated cell lines:
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Multiple Sclerosis
Show synonymsOntology Lookup ServiceA 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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Muscle Hypotonia
Ontology Lookup ServiceAssociated cell lines:
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MYH9-related disease
Show synonymsOntology Lookup ServiceMYH9-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 [...]
Associated cell lines:
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myocardial infarction
Show synonymsOntology Lookup ServiceNECROSIS 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.
Associated cell lines:
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myoclonic epilepsy
Show synonymsOntology Lookup ServiceA 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.).
Associated cell lines:
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myopathy
Show synonymsOntology Lookup ServiceA muscular disease in which the muscle fibers do not function resulting in muscular weakness.; A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.
Associated cell lines:
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myotonic dystrophy type 1
Ontology Lookup ServiceA 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.
Associated cell lines:
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Neurodevelopmental Disorder
Show synonymsOntology Lookup ServiceA childhood disorder that has a neurological basis and manifests as a developmental disability.
Associated cell lines:
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neurofibromatosis
Ontology Lookup Service -
Neurofibromatosis
Show synonymsOntology Lookup ServiceAn 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, [...]
Associated cell lines:
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neurofibromatosis type 1
Ontology Lookup ServiceNeurofibromatosis 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.
Associated cell lines:
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Neuronal Intranuclear Inclusion Disease
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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neuropathy
Ontology Lookup ServiceA disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness.
Associated cell lines:
- STBCi017-A
- STBCi017-B
- STBCi017-C
- STBCi018-A
- STBCi018-B
- STBCi018-C
- STBCi035-A
- STBCi035-B
- STBCi035-C
- STBCi036-A
- STBCi037-A
- STBCi037-B
- STBCi037-C
- STBCi049-A
- STBCi049-B
- STBCi049-C
- STBCi050-A
- STBCi050-B
- STBCi050-C
- STBCi059-A
- STBCi059-B
- STBCi059-C
- STBCi060-A
- STBCi060-B
- STBCi060-C
- STBCi104-A
- STBCi124-A
- STBCi129-A
- STBCi139-A
- STBCi140-A
- STBCi144-A
- STBCi181-A
- STBCi182-A
- STBCi183-A
- STBCi184-A
- STBCi185-A
- STBCi195-A
- STBCi196-A
- STBCi197-A
- STBCi198-A
- STBCi213-A
- STBCi214-A
- STBCi223-A
- STBCi224-A
- STBCi225-A
- STBCi226-A
- STBCi227-A
- STBCi228-A
- STBCi230-A
- STBCi231-A
- STBCi232-A
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NON RARE IN EUROPE: Hyperlipoproteinemia type 4
Show synonymsOntology Lookup ServiceA hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.; A laboratory test result indicating an autosomal dominant condition in which there is increased [...]
Associated cell lines:
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Non-specific early-onset epileptic encephalopathy
Show synonymsOntology Lookup ServiceA rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also [...]
Associated cell lines:
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Nonketotic hyperglycinemia
Ontology Lookup ServiceAssociated cell lines:
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Noonan Syndrome
Show synonymsOntology Lookup ServiceA 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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normal
Ontology Lookup ServiceA quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average.
Associated cell lines:
- AAKIPSi001-A
- AAKIPSi002-A
- AAKIPSi003-A
- AAUe001-A
- AHMUi001-A
- AHQUi001-A
- AHQUi001-A-1
- AMUFAHi001-A
- AMUFAHi002-A
- AMUFAHi003-A
- ASGRCi001-A
- ASGRCi002-A
- ASGRCi003-A
- ASGRCi004-A
- ASGRCi005-A
- ASGRCi006-A
- ASGRCi007-A
- ATCi002-A
- ATLABi001-A
- ATLABi002-A
- ATLABi003-A
- ATLABi004-A
- ATLABi005-A
- ATLABi006-A
- ATLABi007-A
- ATLABi008-A
- ATLABi009-A
- ATLABi010-A
- ATLABi011-A
- ATLABi012-A
- ATLABi013-A
- ATLABi014-A
- ATLABi015-A
- ATLABi016-A
- AUi001-A
- BBANTWi001-A
- BBANTWi001-B
- BBANTWi001-C
- BBANTWi006-A
- BBANTWi007-A
- BBANTWi008-A
- BBANTWi009-A
- BBANTWi010-A
- BCHNi001-A
- BCMi001-A
- BCMi001-B
- BCMi002-A
- BCRTi001-A
- BCRTi002-A
- BCRTi004-A
- BCRTi005-A
- BGUi001-A
- BGUi002-A
- BGUi003-A
- BGUi004-A
- BGUi005-A
- BGUi008-A
- BGUi009-A
- BGUi010-A
- BGUi011-A
- BGUi012-A
- BGUi013-A
- BGUi014-A
- BGUi015-A
- BIHi001-A
- BIHi001-A-1
- BIHi001-B
- BIHi002-A
- BIHi004-A
- BIHi004-B
- BIHi005-A
- BIHi005-A-4
- BIHi005-A-5
- BIHi006-D
- BIHi007-A
- BIHi008-A
- BIHi009-A
- BIHi010-A
- BIHi011-A
- BIHi012-A
- BIHi015-A
- BIHi016-A
- BIHi017-A
- BIHi018-A
- BIHi019-A
- BIHi024-A
- BIHi025-A
- BIHi028-B
- BIHi029-A
- BIHi030-C
- BIHi031-B
- BIHi032-A
- BIHi038-B
- BIHi250-A
- BIOi002-A
- BIOi003-A
- BIONi010-A
- BIONi010-B
- BIONi010-C
- BIONi010-C-10
- BIONi010-C-11
- BIONi010-C-12
- BIONi010-C-13
- BIONi010-C-15
- BIONi010-C-17
- BIONi010-C-18
- BIONi010-C-19
- BIONi010-C-2
- BIONi010-C-24
- BIONi010-C-25
- BIONi010-C-3
- BIONi010-C-4
- BIONi010-C-5
- BIONi010-C-51
- BIONi010-C-55
- BIONi010-C-6
- BIONi010-C-64
- BIONi010-C-7
- BIONi010-C-8
- BIONi010-C-9
- BIONi013-A
- BIONi014-A
- BIONi015-A
- BIONi016-A
- BIONi017-A
- BIONi018-A
- BIONi019-A
- BIONi020-A
- BIONi021-A
- BIONi022-A
- BIONi023-A
- BIONi024-A
- BIONi025-A
- BIONi026-A
- BIONi027-A
- BIONi028-A
- BIONi029-A
- BIONi030-A
- BIONi031-A
- BIONi032-A
- BIONi033-A
- BIONi034-A
- BIONi035-A
- BIONi037-A
- BIONi037-A-1
- BIONi037-A-2
- BIONi037-A-3
- BIONi037-A-4
- BIOTi001-A
- BIUi001-A
- BIUi002-A
- BJTTHi001-A
- BJTTHi001-A-1
- BJTTHi001-A-2
- BJTTHi001-A-3
- BJTTHi001-A-4
- BJTTHi001-A-5
- BRCi021-A
- BUCREMi001-A
- BUCREMi002-A
- CABi002-A
- CABi003-A
- CAMe001-A
- CAMe002-A
- CAMi001-A
- CAMi002-A
- CAMi002-B
- CAMi002-C
- CAMi004-A
- CAMi005-A
- CAMi005-B
- CAMi014-A
- CBCHi001-A-1
- CBi001-A
- CBi002-A
- CBIGi001-A
- CBIGi001-A-1
- CBIGi001-A-2
- CBIGi001-A-3
- CBIGi002-A
- CBIGi002-A-1
- CBIGi003-A
- CBIGi003-A-1
- CDIi001-A
- CDIi002-A
- CDIi004-A
- CEBe002-A-1
- CEBe002-A-2
- CEBe002-A-3
- CEBe012-A
- CEBe033-A
- CEBe033-A-1
- CEBi001-A
- CENSOi001-B
- CENSOi002-B
- CENSOi003-B
- CENSOi005-A
- CENSOi007-A
- CENSOi008-A
- CHAHESe001-A
- CHAHESe001-A-1
- CHCMUi001-A
- CHDIi001-A
- CHDIi002-A
- CHDIi003-A
- CHDIi004-A
- CHDIi005-A
- CHDIi006-A
- CHDIi008-A
- CHDIi010-A
- CHDIi011-A
- CHDIi013-A
- CHDIi014-A
- CHDIi016-A
- CHDIi017-A
- CHDIi018-A
- CHDIi019-A
- CHDIi020-A
- CHDIi021-A
- CHDIi022-A
- CHDIi023-A
- CHDIi024-A
- CHDIi026-A
- CHDIi027-A
- CHDIi028-A
- CHDIi029-A
- CHDIi031-A
- CHDIi033-A
- CHDIi034-A
- CHDIi035-A
- CHDIi036-A
- CHDIi038-A
- CHDIi040-A
- CHDIi041-A
- CHDIi042-A
- CHDIi043-A
- CHDIi044-A
- CHDIi045-A
- CHDIi046-A
- CHDIi047-A
- CHDIi048-A
- CHDIi049-A
- CHDIi050-A
- CHDIi051-A
- CHDIi054-A
- CHDIi055-A
- CHDIi056-A
- CHOPi001-A
- CHOPi005-A
- CHOPi006-A
- CHOPi007-A
- CHULAe001-A
- CHUQi001-A
- CHUVi001-A
- CHWi001-A
- CIMHi001-A
- CIMHi002-A
- CIMHi003-A
- CIMRi001-A
- CIPi001-A
- CIPi002-A
- CIRAi005-A
- CIRAi005-A-1
- CIRAi006-A
- CIRAi006-A-1
- CMCi001-A
- CMCi002-A
- CMCi006-A
- CMCi007-A
- CMCi009-A
- CMCi010-A
- CMFTe001-A
- CMFTe002-A
- CMFTe003-A
- CMFTe004-A
- CMGANTi003-A
- CMGANTi004-A
- CMUi002-A
- CMUi002-A-1
- CPGHi004-A
- CPGHi006-A
- CPGHi007-A
- CPGHi008-A
- CRICKi001-A
- CRICKi002-A
- CRMi001-A
- CRMi003-A
- CRMi003-A-2
- CRMi003-A-3
- CRMi004-A
- CRMi005-A
- CRTDi001-A
- CRTDi003-A
- CRTDi003-B
- CRTDi004-A
- CRTDi005-A
- CRTDi005-B
- CRTDi011-A
- CRTDi011-B
- CRTDi011-C
- CRTDi011-D
- CSSi001-A
- CSSi002-A
- CSSi003-A
- CSSi004-A
- CSSi005-A
- CSSi006-A
- CSSi007-A
- CSSi008-A
- CSSi009-A
- CSSi011-A
- CSSi012-A
- CSSi013-A
- CSSi014-A
- CSUe001-A
- CSUe004-A
- CSUe005-A
- CSUXHi001-A
- CSUXHi002-A
- CSUXHi003-A
- CSUXHi004-A
- CSUXHi005-A
- CUBi001-A
- CUBi002-B
- CUIMCi004-A
- CVTTHi001-A
- DANi001-C
- DANi002-C
- DANi003-H
- DANi004-A
- DANi005-A
- DANi006-F
- DANi007-A
- DANi008-F
- DANi009-C
- DANi010-A
- DANi011-A
- DHMi001-A
- DHMi002-A
- DHMi003-A
- DHMi004-A
- DHMi005-A
- DHMi005-A-1
- DHMi005-A-2
- DHMi005-A-3
- DHMi005-A-4
- DMBi001-A
- DMBi001-A-1
- DMBi001-A-2
- DMBi003-A
- DMBi004-A
- DPNJMUi001-A
- EDe001-A
- EDe002-A
- EDe003-A
- EDe004-A
- EDe009-A
- EDe011-A
- EDi001-A
- EDi001-A-1
- EDi001-A-2
- EDi001-A-3
- EDi001-A-4
- EDi001-A-5
- EDi001-B
- EDi001-B-1
- EDi001-B-2
- EDi001-B-3
- EDi001-B-4
- EDi002-A
- EDi008-B
- EDi010-A
- EDi010-B
- EDi011-A
- EDi011-B
- EDi011-C
- EDi012-A
- EDi012-B
- EDi012-C
- EDi013-A
- EDi013-B
- EDi013-C
- EDi014-A
- EDi014-B
- EDi015-A
- EDi015-B
- EDi015-C
- EDi016-A
- EDi016-C
- EDi017-A
- EDi017-B
- EDi017-C
- EDi018-A
- EDi018-B
- EDi018-C
- EDi019-A
- EDi019-B
- EDi019-C
- EDi020-A
- EDi021-A
- EDi022-A
- EDi023-A
- EDi024-A
- EDi025-A
- EDi026-A
- EDi027-A
- EDi028-A
- EDi029-A
- EDi030-A
- EDi031-A
- EDi032-A
- EDi033-A
- EDi034-A
- EDi035-A
- EDi036-A
- EDi037-A
- EDi038-A
- EDi039-A
- EDi040-A
- EDi041-A
- EDi042-A
- EDi043-A
- EDi044-A
- EDi045-A
- EHTJUi002-A
- EHTJUi003-A
- EHTJUi004-A
- EHTJUi005-A
- EHTJUi005-A-1
- EHTJUi005-A-3
- EPFLi001-A
- EPFLi002-A
- EPFLi003-A
- EPFLi004-A
- EPFLi005-A
- EPFLi006-A
- ESe009-A
- ESe010-A
- ESe011-A
- ESe012-A
- ESe013-A
- ESe014-A
- ESe015-A
- ESe016-A
- ESe018-A
- ESe019-A
- ESe020-A
- ESe021-A
- ESe022-A
- ESe023-A
- ESe024-A
- ESe025-A
- ESe026-A
- ESe027-A
- ESe028-A
- ESe029-A
- ESi001-A
- ESi002-A
- ESi003-A
- ESi004-A
- ESi005-A
- ESi005-B
- ESi006-A
- ESi007-A
- ESi008-A
- ESi008-B
- ESi028-A
- ESi031-A
- ESi031-B
- ESi031-C
- ESi031-D
- ESi032-A
- ESi033-A
- ESi034-A
- ESi034-B
- ESi035-A
- ESi036-A
- ESi037-A
- ESi038-A
- ESi038-B
- ESi038-C
- ESi040-A
- ESi041-A
- ESi041-B
- ESi041-C
- ESi042-A
- ESi043-A
- ESi044-A
- ESi044-B
- ESi044-C
- ESi044-D
- ESi045-A
- ESi045-B
- ESi045-C
- ESi045-D
- ESi046-A
- ESi048-A
- ESi049-A
- ESi050-A
- ESi051-A
- ESi052-A
- ESi053-A
- ESi054-A
- ESi055-A
- ESi056-A
- ESi057-A
- ESi057-B
- ESi058-A
- ESi058-B
- ESi059-A
- ESi059-B
- ESi060-A
- ESi060-B
- ESi065-A
- ESi068-A
- ESi069-A
- ESi070-A
- ESi071-A
- ESi072-A
- ESi073-A
- ESi074-A
- ESi075-A
- ESi076-A
- ESi077-A
- ESi078-A
- ESi079-A
- ESi080-A
- ESi081-A
- ESi082-A
- ESi085-A
- ESIBIe002-A
- ESIBIe003-A
- ESIBIe003-A-1
- ESIBIe003-A-10
- ESIBIe003-A-11
- ESIBIe003-A-12
- ESIBIe003-A-2
- ESIBIe003-A-3
- ESIBIe003-A-4
- ESIBIe003-A-6
- ESIBIe003-A-7
- ESIBIe003-A-8
- ESIBIe003-A-9
- FAMRCi001-A
- FAMRCi001-B
- FAMRCi002-A
- FAMRCi003-A
- FAMRCi003-B
- FAMRCi004-A
- FAMRCi004-B
- FAMRCi005-A
- FAMRCi005-B
- FAMRCi006-A
- FAMRCi006-B
- FAMRCi007-A
- FAMRCi007-B
- FAMRCi008-A
- FAMRCi009-A
- FAMRCi010-A
- FDCHDPi001-A
- FDCHi004-A
- FDCHi007-A
- FHUSTCi001-A
- FHUSTCi002-A
- FJMUi001-A
- FJMUNi001-A
- FJMUUHi001-A
- FMCPGHi001-A
- FMUPDCi001-A
- FRIMOi001-A
- FRIMOi002-A
- FRIMOi003-A
- FRIMOi004-A
- FRIMOi005-A
- FRIMOi006-A
- FRIMOi007-A
- FUHSi001-A
- GENEAe001-A
- GENEAe002-A
- GENEAe003-A
- GENEAe004-A
- GENEAe005-A
- GENEAe006-A
- GENEAe007-A
- GENEAe008-A
- GENEAe009-A
- GENEAe010-A
- GENEAe011-A
- GENEAe012-A
- GENEAe013-A
- GENEAe014-A
- GENEAe015-A
- GENEAe016-A
- GENEAe017-A
- GENEAe018-A
- GENEAe019-A
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