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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
congenital disorder of glycosylation Id
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congenital disorder of glycosylation 1d
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
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congenital disorder of glycosylation Ie
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congenital disorder of glycosylation 1e
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
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congenital disorder of glycosylation If
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congenital disorder of glycosylation 1f
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.
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congenital disorder of glycosylation Ig
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congenital disorder of glycosylation 1g; ALG12-con..
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congenital disorder of glycosylation 1g; ALG12-congenital disorder of glycosylation
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.
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congenital disorder of glycosylation Ih
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congenital disorder of glycosylation 1h
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14.
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congenital disorder of glycosylation Ii
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congenital disorder of glycosylation 1i
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
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congenital disorder of glycosylation Ij
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Congenital disorder of glycosylation 1j
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
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congenital disorder of glycosylation Ik
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congenital disorder of glycosylation 1k
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
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congenital disorder of glycosylation Il
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congenital disorder of glycosylation 1l
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.
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congenital disorder of glycosylation Im
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congenital disorder of glycosylation 1m; dolichol ..
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congenital disorder of glycosylation 1m; dolichol kinase deficiency; DOLK-congenital disorder of glycosylation
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
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congenital disorder of glycosylation In
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congenital disorder of glycosylation 1n
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21.
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congenital disorder of glycosylation Ip
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congenital disorder of glycosylation 1p
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A congenital disorder of glycosylation I that is c.. [+]
A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.
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congenital disorder of glycosylation Iq
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congenital disorder of glycosylation 1q
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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.
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congenital disorder of glycosylation Ir
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congenital disorder of glycosylation 1r
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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.
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congenital disorder of glycosylation It
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congenital disorder of glycosylation 1t
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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.
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congenital disorder of glycosylation Iu
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congenital disorder of glycosylation 1u
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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.
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congenital disorder of glycosylation Iw
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congenital disorder of glycosylation 1w
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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.
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congenital disorder of glycosylation Ix
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congenital disorder of glycosylation 1x
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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.
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congenital disorder of glycosylation Iy
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congenital disorder of glycosylation 1y
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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.
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congenital myasthenic syndrome 22
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.
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Coronavirus infectious disease
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A viral infectious disease that has_material_basis.. [+]
A viral infectious disease that has_material_basis_in Coronavirus.
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2 articles
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COVID-19
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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
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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.
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corticosterone methyloxidase deficiency 1
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aldosterone synthase deficiency
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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.
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calcium oxalate nephrolithiasis
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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.
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1 articles
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caudal regression syndrome
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caudal dysgenesis syndrome; caudal regression sequ..
[+]
caudal dysgenesis syndrome; caudal regression sequence; caudal dysplasia sequence; sacral agenesis; sacral defect with anterior meningocele
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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.
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congenital myopathy 6
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inclusion body myopathy 3; proximal myopathy and o..
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inclusion body myopathy 3; proximal myopathy and ophthalmoplegia
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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.
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calvarial doughnut lesions with bone fragility
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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.
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chronic urticaria
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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.
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chronic inducible urticaria
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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.
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complete androgen insensitivity syndrome
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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.
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childhood acute megakaryoblastic leukemia
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pediatric non-Down syndrome acute megakaryoblastic..
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pediatric non-Down syndrome acute megakaryoblastic leukemia
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An acute megakaryocytic leukemia that is character.. [+]
An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
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core binding factor acute myeloid leukemia
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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.
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cranioectodermal dysplasia 1
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A cranioectodermal dysplasia that has_material_bas.. [+]
A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.
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cranioectodermal dysplasia 2
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A cranioectodermal dysplasia that has_material_bas.. [+]
A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24.
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cranioectodermal dysplasia 3
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A cranioectodermal dysplasia that has_material_bas.. [+]
A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
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cranioectodermal dysplasia 4
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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.
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childhood-onset asthma
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childhood asthma
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A chronic asthma that is characterized by first pr.. [+]
A chronic asthma that is characterized by first presentation in early childhood.
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childhood low-grade glioma
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pediatric low-grade glioma
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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.
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cerebellofaciodental syndrome
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cerebellar-facial-dental syndrome
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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.
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central nervous system neuroblastoma
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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.
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CNS neuroblastoma with FOXR2 activation
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CNS NB-FOXR2; CNS neuroblastoma, FOXR2-activated; ..
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CNS neuroblastoma, FOXR2-activated; CNS NB-FOXR2; central nervous system neuroblastoma with FOXR2 activation
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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.
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Cockayne syndrome A
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Cockayne syndrome type I; Cockayne syndrome type 1..
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Cockayne syndrome type I; Cockayne syndrome type 1
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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.
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Cockayne syndrome B
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Cockayne syndrome type II; Cockayne syndrome 2
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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.
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castration-resistant prostate carcinoma
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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.
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cerebrooculofacioskeletal syndrome
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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.
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cerebrooculofacioskeletal syndrome 1
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A cerebrooculofacioskeletal syndrome that has_mate.. [+]
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
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cerebrooculofacioskeletal syndrome 2
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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.
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cerebrooculofacioskeletal syndrome 3
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A cerebrooculofacioskeletal syndrome that has_mate.. [+]
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33.
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cerebrooculofacioskeletal syndrome 4
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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.
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cytochrome P450 oxidoreductase deficiency
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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.
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