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susceptibility to isolated scoliosis 1
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MIM_181800 |
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poor wound healing
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SYMP_0020028 |
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congenital disorder of glycosylation In
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DOID_0080566 |
[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 type I
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DOID_0050570 |
[A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.] |
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concentration difficulty
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SYMP_0020029 |
[An alteration of consciousness that is characterized by a decreased ability to focus one's thoughts on something. Concentration difficulties can be related to difficulty staying awake, impulsiveness, intrusive thoughts or concerns, overactivity, or inattention. They can be caused by medical, cognitive or psychological problems, or, may be related to sleep disorders, medications, alcohol, or drugs.] |
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congenital disorder of glycosylation Ip
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DOID_0080567 |
[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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chronic inflammation
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SYMP_0020026 |
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congenital disorder of glycosylation Iq
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DOID_0080568 |
[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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wet cough
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SYMP_0020027 |
[A cough that is characterized by a production and expectoration (bringing up) of mucus (phlegm) or sputum.] |
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congenital disorder of glycosylation Ir
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DOID_0080569 |
[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 Ij
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DOID_0080562 |
[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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DOID_0080563 |
[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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DOID_0080564 |
[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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DOID_0080565 |
[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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obsolete mixed endodermal sinus neoplasm and teratoma with seminoma of the testis
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DOID_6792 |
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obsolete primary Mycoplasma infectious disease
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DOID_5461 |
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obsolete contagious pleuropneumonia
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DOID_5460 |
[A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides).] |
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cochlear disease
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DOID_5463 |
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obsolete African swine fever
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DOID_5462 |
[A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia.] |
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erythrasma
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DOID_4131 |
[A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum.] |