Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 ???pagination.result.next???

Disease	Synonyms	Description	Articles
childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered		A childhood embryonal tumor with multilayered rose..[+] A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. [-]
congenital myopathy 1B	multiminicore disease	A congenital myopathy that is characterized by mul..[+] A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. [-]
Cowden syndrome 4		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. [-]
Cowden syndrome 5		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. [-]
Cowden syndrome 6		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. [-]
Cowden syndrome 7		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. [-]
critical COVID-19		A COVID-19 that is characterized by the criteria f..[+] A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. [-]
congenital fibrosis of the extraocular muscles 1		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. [-]
congenital fibrosis of the extraocular muscles 2		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. [-]
congenital fibrosis of the extraocular muscles 3A		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. [-]
congenital fibrosis of the extraocular muscles 3C		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). [-]
congenital fibrosis of the extraocular muscles 5		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. [-]
central conducting lymphatic anomaly	lymphatic malformation-7	A lymphatic system disease that is characterized b..[+] A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. [-]
congenital limbs-face contractures-hypotonia-developmental delay syndrome	congenital contractures of the limbs and face, hyp.. [+] congenital contractures of the limbs and face, hypotonia, and developmental delay; CLIFAHDD syndrome [-]	A syndrome that is characterized by congenital con..[+] A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. [-]
central diabetes insipidus		A diabetes insipidus that is characterized by poly..[+] A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis. [-]
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	Cerebrofaciothoracic dysplasia; Cerebro-facio-thor.. [+] Cerebrofaciothoracic dysplasia; Cerebro-facio-thoracic dysplasia; Pascual-Castroviejo syndrome; TMCO1 defect syndrome [-]	A syndrome that is characterized by abnormal devel..[+] A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. [-]	1 articles
chronic myelogenous leukemia, BCR-ABL1 positive	Chronic myelogenous leukemia, BCR/ABL positive	A chronic myeloid leukemia that is characterized b..[+] A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene. [-]
Catel Manzke syndrome	Hyperphalangy-clinodactyly of index finger with Pi.. [+] Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Micrognathia digital syndrome [-]	A bone disease that is characterized by the Pierre..[+] A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. [-]
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1		A craniofacial dysmorphism, skeletal anomalies, an..[+] A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. [-]
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2		A craniofacial dysmorphism, skeletal anomalies, an..[+] A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. [-]
common variable immunodeficiency 1		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. [-]
common variable immunodeficiency 2		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. [-]
common variable immunodeficiency 3		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. [-]
common variable immunodeficiency 4		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. [-]
common variable immunodeficiency 5		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. [-]
common variable immunodeficiency 6		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. [-]
common variable immunodeficiency 7		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. [-]
common variable immunodeficiency 8	common variable immunodeficiency-8 (CVID8) with au.. [+] common variable immunodeficiency-8 (CVID8) with autoimmunity [-]	A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. [-]
common variable immunodeficiency 10		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. [-]
common variable immunodeficiency 11		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. [-]
common variable immunodeficiency 12		A common variable immunodeficiency that is charact..[+] A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. [-]
common variable immunodeficiency 13		A common variable immunodeficiency that is charact..[+] A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. [-]
common variable immunodeficiency 14		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. [-]
cauda equina neuroendocrine tumor	Cauda equina neuroendocrine tumour; Spinal neuroen.. [+] Cauda equina neuroendocrine tumour; Spinal neuroendocrine tumors [-]	A cauda equina neoplasm that is a slow-growing, we..[+] A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. [-]
CIC-rearranged sarcoma	Capicua transcriptional repressor (CIC)-rearranged.. [+] Capicua transcriptional repressor (CIC)-rearranged sarcoma [-]	An EWSERI-negative small round cell tumor that is ..[+] An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. [-]
cerebellar atrophy, visual impairment, and psychomotor retardation	CAVIPMR	A syndrome that is characterized by cerebellar atr..[+] A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. [-]
chronic traumatic encephalopathy		A tauopathy that is characterized by an abundance ..[+] A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. [-]
central nervous system tumor with BCOR internal tandem duplication	CNS tumour with BCOR internal tandem duplication	A central nervous system embryonal tumor that is c..[+] A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. [-]
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Autosomal dominant multiple pterygium syndrome	A contractures, pterygia, and spondylocarpotarsal ..[+] A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. [-]
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	Autosomal recessive multiple pterygium syndrome	A contractures, pterygia, and spondylocarpotarsal ..[+] A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. [-]
congenital myopathy		A myopathy that is characterized by hypotonia and ..[+] A myopathy that is characterized by hypotonia and weakness, usually present from birth. [-]
congenital myopathy 2B		A congenital myopathy that is characterized by sev..[+] A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. [-]
congenital myopathy 2C		A congenital myopathy that is characterized by sev..[+] A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). [-]
congenital myopathy 5	congenital myopathy-5 with cardiomyopathy; Salih m.. [+] congenital myopathy-5 with cardiomyopathy; Salih myopathy [-]	A congenital myopathy that is characterized by the..[+] A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. [-]
congenital myopathy 8		A congenital myopathy that is characterized by hyp..[+] A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. [-]
congenital myopathy 9A		A congenital myopathy that is characterized by neo..[+] A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. [-]
congenital myopathy 9B		A congenital myopathy that is neonatal hypotonia f..[+] A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. [-]
congenital myopathy 10B		A congenital myopathy that is characterized by inf..[+] A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. [-]
congenital myopathy 14		A congenital myopathy that is characterized by ons..[+] A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. [-]
congenital myopathy 15		A congenital myopathy that is characterized by sym..[+] A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. [-]

???pagination.result.page??? ???pagination.result.prev??? 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 ???pagination.result.next???