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10 stis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth musc
12 Amyotrophic lateral sclerosis (ALS) is a degenerative disorder that is characterized by loss of m
16 Homozygous familial hypercholesterolaemia is a genetic disorder characterised by substantially raised L
21 Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteo
23 Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic disorder diagnosed by thrombocytopenia
25 NT Recent evidence indicates that Huntington's disease (HD) is a multisystem disorder.
26 Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative disorder of childhood caused by mutat
28 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion
29 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by a polyglutamine-enc
32 iated with AS.SIGNIFICANCE STATEMENT Angelman syndrome (AS) is a neurodevelopmental disorder caused by loss or mutation o
33 Cyclin-dependent kinase-like 5 (CDKL5) deficiency is a neurodevelopmental disorder characterized by epileptic s
37 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers
40 enomic data are limited.Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder with symptoms including intrus
43 e neurodegenerative diseases and indicate that sporadic FTD is a polygenic disorder where multiple pleiotropic loci with
46 Heparin-induced thrombocytopenia (HIT) is a prothrombotic disorder initiated by antibodies against c
49 se type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation.
50 Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral
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