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Disease	Synonyms	Description	Articles
congenital disorder of glycosylation Iq	congenital disorder of glycosylation 1q	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. [-]
congenital disorder of glycosylation Ir	congenital disorder of glycosylation 1r	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. [-]
congenital disorder of glycosylation It	congenital disorder of glycosylation 1t	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. [-]
congenital disorder of glycosylation Iu	congenital disorder of glycosylation 1u	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. [-]
congenital disorder of glycosylation Iw	congenital disorder of glycosylation 1w	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. [-]
congenital disorder of glycosylation Ix	congenital disorder of glycosylation 1x	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. [-]
congenital disorder of glycosylation Iy	congenital disorder of glycosylation 1y	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. [-]
Coronavirus infectious disease		A viral infectious disease that has_material_basis..[+] A viral infectious disease that has_material_basis_in Coronavirus. [-]	2 articles
COVID-19	COVID19; 2019 Novel Coronavirus (2019-nCoV); 2019-.. [+] COVID19; 2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; Wuhan coronavirus infection; Wuhan seafood market pneumonia virus infection; SARS-CoV-2 infection [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. [-]
corticosterone methyloxidase deficiency 1	aldosterone synthase deficiency	An adrenal gland disease that is characterized by ..[+] An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. [-]
calcium oxalate nephrolithiasis		A nephrolithiasis that is characterized by charact..[+] A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. [-]	1 articles
caudal regression syndrome	caudal dysgenesis syndrome; caudal regression sequ.. [+] caudal dysgenesis syndrome; caudal regression sequence; caudal dysplasia sequence; sacral agenesis; sacral defect with anterior meningocele [-]	A physical disorder that is characterized by impai..[+] A physical disorder that is characterized by impairment of the development of the lower half of the body. [-]
congenital myopathy 6	inclusion body myopathy 3; proximal myopathy and o.. [+] inclusion body myopathy 3; proximal myopathy and ophthalmoplegia [-]	A congenital myopathy that is characterized by chi..[+] A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. [-]
calvarial doughnut lesions with bone fragility		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. [-]
chronic urticaria		An urticaria that is characterized by the presence..[+] An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. [-]
chronic inducible urticaria		A chronic urticaria that is characterized by a his..[+] A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. [-]
complete androgen insensitivity syndrome		An androgen insensitivity syndrome that is charact..[+] An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. [-]
childhood acute megakaryoblastic leukemia	pediatric non-Down syndrome acute megakaryoblastic.. [+] pediatric non-Down syndrome acute megakaryoblastic leukemia [-]	An acute megakaryocytic leukemia that is character..[+] An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. [-]
core binding factor acute myeloid leukemia		An acute myeloid leukemia that is characterized by..[+] An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. [-]
cranioectodermal dysplasia 4		A cranioectodermal dysplasia that has_material_bas..[+] A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. [-]
childhood-onset asthma	childhood asthma	A chronic asthma that is characterized by first pr..[+] A chronic asthma that is characterized by first presentation in early childhood. [-]
childhood low-grade glioma	pediatric low-grade glioma	A low-grade glioma that occurs in children and enc..[+] A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. [-]
cerebellofaciodental syndrome	cerebellar-facial-dental syndrome	A syndrome that is characterized by delayed develo..[+] A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. [-]
central nervous system neuroblastoma		A central nervous system germ cell tumor that is c..[+] A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. [-]
CNS neuroblastoma with FOXR2 activation	CNS NB-FOXR2; CNS neuroblastoma, FOXR2-activated; .. [+] CNS neuroblastoma, FOXR2-activated; CNS NB-FOXR2; central nervous system neuroblastoma with FOXR2 activation [-]	A central nervous system neuroblastoma that is cha..[+] A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. [-]
Cockayne syndrome A	Cockayne syndrome type I; Cockayne syndrome type 1.. [+] Cockayne syndrome type I; Cockayne syndrome type 1 [-]	A Cockayne syndrome that has_material_basis_in hom..[+] A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. [-]
Cockayne syndrome B	Cockayne syndrome type II; Cockayne syndrome 2	A Cockayne syndrome that is characterized by sever..[+] A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. [-]
castration-resistant prostate carcinoma		A prostate carcinoma that is characterized by cont..[+] A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. [-]
cerebrooculofacioskeletal syndrome		A Cockayne syndrome that is characterized by very ..[+] A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. [-]
cerebrooculofacioskeletal syndrome 2		A cerebrooculofacioskeletal syndrome that has_mate..[+] A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. [-]
cerebrooculofacioskeletal syndrome 3		A cerebrooculofacioskeletal syndrome that has_mate..[+] A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. [-]
cerebrooculofacioskeletal syndrome 4		A cerebrooculofacioskeletal syndrome that has_mate..[+] A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. [-]
cytochrome P450 oxidoreductase deficiency		A steroid inherited metabolic disorder that is cha..[+] A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. [-]
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. [-]
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 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. [-]
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 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. [-]

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