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Disease	Synonyms	Description	Articles
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. [-]
congenital myopathy 16		A congenital myopathy that is characterized by ons..[+] A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. [-]
congenital myopathy 17		A congenital myopathy that is characterized by hyp..[+] A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. [-]
congenital myopathy 18		A congenital myopathy that is characterized by the..[+] A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. [-]
congenital myopathy 19		A congenital myopathy that is characterized by inf..[+] A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. [-]
congenital myopathy 20		A congenital myopathy that has_material_basis_in h..[+] A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. [-]
congenital myopathy 21		A congenital myopathy that is characterized by dia..[+] A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. [-]
congenital myopathy 22A		A congenital myopathy that is characterized by ons..[+] A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. [-]
congenital myopathy 22B		A congenital myopathy that is characterized by in ..[+] A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. [-]
COX deficiency, benign infantile mitochondrial myopathy	Isolated cytochrome C oxidase deficiency	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. [-]
corticobasal degeneration syndrome		A frontotemporal dementia that characterized by th..[+] A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. [-]
Caroli syndrome		A syndrome that is characterized by the presence o..[+] A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. [-]
childhood sarcoma with BCOR genetic alterations		A sarcoma with BCOR genetic alterations that occur..[+] A sarcoma with BCOR genetic alterations that occurs during childhood. [-]
childhood round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion tha..[+] A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. [-]
childhood renal cell carcinoma with MiT translocations		A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. [-]
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-relate.. [+] DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-related neurologic disorder; MEPAN syndrome; Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration [-]	A dystonia that is characterized by characterized ..[+] A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. [-]
cone-rod dystrophy 21		A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. [-]
cone-rod dystrophy 22		A cone-rod dystrophy that is characterized by loss..[+] A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. [-]
cone-rod dystrophy 24		A cone-rod dystrophy that is characterized by nigh..[+] A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. [-]
Cenani-Lenz syndactyly syndrome	syndactyly type 7	A dysostosis characterized by syndactyly, malforma..[+] A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. [-]
chromosome 5q deletion syndrome	5q- syndrome, refractory macrocytic anemia due to .. [+] 5q- syndrome, refractory macrocytic anemia due to 5q deletion; myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality [-]	A chromosomal deletion syndrome characterized by s..[+] A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. [-]	1 articles
CINCA Syndrome	cryopyrin-associated periodic syndrome 3; chronic .. [+] cryopyrin-associated periodic syndrome 3; chronic neurologic cutaneous and articular syndrome; chronic infantile neurological cutaneous articular syndrome; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome; IOMID syndrome; infantile-onset multisystem inflammatory disease [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]

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