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1 Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder, dev
2 leidocranial dysplasia (CCD) is an autosomal dominant human disorder characterized by abnormal bone development that is m
3 Sarcoidosis is an inflammatory granulomatous disorder characterized by accumulation of TH1-type CD4(+) T c
4 Dry eye disease (DED) is a highly prevalent, ocular disorder characterized by an abnormal tear film and ocular su
5 Celiac disease (CD) is an immune-mediated disorder characterized by an accumulation of immune cells in
6 Obesity is a widespread chronic inflammatory disorder characterized by an increased overall disease burden
7 rotein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hy
8 Primary hyperparathyroidism is an endocrine disorder characterized by autonomous production of parathyroi
9 impairment in patients with diabetes mellitus, a metabolic disorder characterized by chronic hyperglycaemia and dysregul
10 Achromatopsia is an autosomal recessive disorder characterized by cone photoreceptor dysfunction.
11 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal
12 Endometriosis is an incurable gynecological disorder characterized by debilitating pain and the establish
13 Cystinuria is an incompletely dominant disorder characterized by defective urinary cystine reabsorpt
14 CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12)
15 Niemann-Pick Type C disease (NPC) is a rare metabolic disorder characterized by disruption of normal cholesterol tr
16 llough syndrome (CMCS), an autosomal recessive neurological disorder characterized by early-onset sensorineural deafness
17 nt kinase-like 5 (CDKL5) deficiency is a neurodevelopmental disorder characterized by epileptic seizures, severe intellec
18 Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordin
19 ssociated with risk for schizophrenia, a neurodevelopmental disorder characterized by excitatory/inhibitory imbalance and
20 generation (AMD) is a progressive retinal neurodegenerative disorder characterized by extracellular deposits known as dru
21 ne mutations in SPRTN cause Ruijs-Aalfs syndrome (RJALS), a disorder characterized by genome instability, progeria and ea
22 Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye mov
23 cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological s
24 Myelodysplastic syndrome (MDS) is clonal disorder characterized by ineffective hematopoiesis and a ten
25 dic case with isolated congenital mirror movements (CMM), a disorder characterized by involuntary movements of one hand t
26 intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction i
27 pinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of spinal cord motor neurons,
28 gile X syndrome (FXS) is an undertreated neurodevelopmental disorder characterized by low intelligence quotent and a wide
29 e TPM4 protein and segregates with macrothrombocytopenia, a disorder characterized by low platelet count.
31 Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmenta
33 Tourette syndrome (TS) is a neuropsychiatric disorder characterized by multiple tics and sensorimotor abno
34 onstrate that this is directly relevant to schizophrenia, a disorder characterized by NMDAR and cholinergic hypofunctions
35 Alzheimer's disease (AD) is a devastating neurodegenerative disorder characterized by pathological brain lesions and a de
36 of gray platelet syndrome (GPS), a rare recessive bleeding disorder characterized by platelets lacking alpha-granules an
37 thmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse
38 Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and t
39 ystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, pr
40 tic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurrent episodes of palmoplantar
41 Polycystic ovary syndrome (PCOS) is a complex hormonal disorder characterized by reproductive, endocrine, and metabo
42 Anorexia nervosa (AN) is a serious eating disorder characterized by self-starvation and extreme weight
43 Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by severe, often fatal muscle weakness
45 Fahr syndrome is a rare neurodegenerative disorder characterized by symmetrical, bilateral calcificatio
46 exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the ret
47 Misophonia is an affective sound-processing disorder characterized by the experience of strong negative e
48 s a childhood-onset neuropsychiatric and neurodevelopmental disorder characterized by the presence of both motor and voca
49 ncluding psoriasis, a common and debilitating T-cell-driven disorder characterized by thick erythematous skin plaques.
50 Hemophagocytic lymphohistiocytosis is a life-threatening disorder characterized by unbridled activation of cytotoxic T
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