Referência |
Doença |
|---|---|
| SEQ1108 | Thyroid hormone resistance |
| SEQ1091 | Male infertility with azoospermia or oligozoospermia |
| TRP1301 | Premature ovarian failure |
| SEQ1095 | Bardet-Biedl syndrome |
| SEQ9661 | Werner syndrome |
| SEQ9691 | Wolfram Syndrome / Autosomal Dominant Deafness 6/14/38 |
| SEQ9702 | Type 1 autoimmune polyneuropsty, syndrome |
| SEQ8960 | Rubinstein-Taybi syndrome |
| SEQ8461 | Pseudohypoparathyroidism |
| SEQ8441 | Male pseudohermaphroditism due to deficiency in 5-alpha-reductase |
| SEQ8442 | Male pseudohermaphroditism due to deficiency in 5-alpha-reductase |
| SEQ8281 | Peutz-Jeghers syndrome |
| SEQ8241 | Pendred syndrome |
| SEQ8251 | Perlman's syndrome |
| SEQ8211 | Parrault syndrome type 3 |
| SEQ7751 | Ohdo syndrome type SBBYS |
| SEQ7713 | Obesity, Susceptibility |
| SEQ7714 | Obesity, Susceptibility |
| SEQ7715 | Obesity, Susceptibility |
| SEQ7716 | Obesity, Susceptibility |
| SEQ7561 | Obesity due to deficiency of the leptin receptor gene |
| SEQ7563 | Obesity due to leptin deficiency |
| SEQ7701 | Morbid obesity |
| SEQ7711 | Obesity, Susceptibility |
| SEQ7712 | Obesity, Susceptibility |
| SEQ7419 | Multiple endocrine neoplasia 1 (MEN 1) |
| SEQ7420 | Multiple endocrine neoplasia 2 (MEN 2) |
| SEQ7111 | McCune-Albright syndrome |
| SEQ6934 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 3 |
| SEQ6935 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 4 |
| SEQ6936 | Acquired partial lipodystrophy (Barraquer-Simons syndrome) |
| SEQ6931 | Lipodystrophies |
| SEQ6932 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 1 |
| SEQ6933 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 2 |
| SEQ6842 | sg Leopard syndrome |
| SEQ6811 | Laron's syndrome |
| SEQ6841 | Leopard syndrome |
| SEQ6612 | Kallman syndrome type II |
| SEQ6613 | Kallman syndrome type II |
| SEQ6611 | Kallman syndrome type I |
| SEQ6137 | HNF1 Beta / MODY type III |
| SEQ6077 | Hypolipidemias |
| SEQ6048 | Congenital adrenal hyperplasia |
| SEQ6055 | Familial hypertriglyceridemia |
| SEQ6061 | Benign familial hypobetalipoproteinemia |
| SEQ6031 | Combined familial hyperlipidemia |
| SEQ6037 | Mixed hyperlipidemias |
| SEQ6041 | Type 1 hyperlipoproteinemia |
| SEQ6042 | Type 1 hyperlipoproteinemia |
| SEQ6030 | Congenital hyperinsulism |
| SEQ5981 | Hydroletal Syndrome |
| SEQ5991 | Familial hypercholesterolemia |
| SEQ5992 | Familial hypercholesterolemia |
| SEQ6001 | Autosomal recessive familial hypercholesterolemia |
| SEQ5965 | Hemochromatosis |
| SEQ5671 | GAPO syndrome |
| SEQ5051 | Neutral lipid accumulation disease with myopathy without ichthyosis |
| SEQ4851 | Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3) |
| SEQ4558 | Ovarian response to FSH stimulation |
| SEQ4327 | Septo-optic dysplasia |
| SEQ4329 | Septo-optic dysplasia |
| SEQ4192 | Familial thyroid dyshormonogenesis |
| SEQ4195 | Global dyslipidemia |
| SEQ4161 | Immune Dysfunction - Poliendocrinopathy - X-Linked Enteropathy |
| SEQ4172 | Gonadal Dysgenesis (XY female) (Swyer's Syndrome) |
| SEQ4173 | Gonadal Dysgenesis (XY female) (Swyer's Syndrome) |
| SEQ4191 | Familial thyroid dyshormonogenesis |
| SEQ4111 | Ovarian digenesis |
| SEQ4112 | Ovarian digenesis |
| SEQ4065 | Diabetes mellitus, permanent neonatal (PNDM) |
| SEQ4070 | MODY diabetes |
| SEQ4071 | MODY1 diabetes |
| SEQ4072 | MODY2 diabetes |
| SEQ4073 | MODY3 diabetes |
| SEQ4074 | MODY5 diabetes |
| SEQ4051 | Neurohypophyseal diabetes insipidus |
| SEQ4061 | Permanent neonatal diabetes mellitus |
| SEQ4062 | Transient neonatal diabetes mellitus |
| SEQ4063 | Transient neonatal diabetes mellitus |
| SEQ4064 | Transient neonatal diabetes mellitus |
| SEQ4035 | Epstein syndrome |
| SEQ4041 | Autosomal Nephrogenic Diabetes Insipidus |
| SEQ4042 | X-linked Nephrogenic Diabetes Insipidus |
| SEQ3892 | Isolated familial glucocorticoid deficiency |
| SEQ3901 | Isolated familial glucocorticoid deficiency |
| SEQ3791 | Congenital combined pituitary hormone deficiency |
| SEQ3792 | Congenital combined pituitary hormone deficiency |
| SEQ3793 | Congenital combined pituitary hormone deficiency |
| SEQ3794 | Congenital combined pituitary hormone deficiency |
| SEQ3661 | Aromatase deficiency |
| SEQ3591 | Isolated type IB growth hormone deficiency |
| SEQ3471 | Corticosterone Methyloxidase Deficiency Type I |
| SEQ3362 | Congenital Glycosylation Defect type 1B |
| SEQ3363 | Congenital Glycosylation Defect type 1C |
| SEQ3361 | Congenital Glycosylation Defect type 1A |
| SEQ2941 | Cohen syndrome, c.3348_3349delCT mutation VPS13B gene |
| SEQ2942 | Cohen syndrome |
| SEQ2841 | CHILD syndrome |
| SEQ2641 | Calcinosis, tumor |
| SEQ2642 | Calcinosis, tumor |
| SEQ2651 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| SEQ2634 | Bilateral striatum-pale-dentate calcinosis |
| SEQ2351 | Reverse blepharophimosis-ptosis-epicanthus |
| SEQ2361 | Bloom syndrome |
| SEQ2281 | NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome |
| SEQ2230 | Bardet-Biedl syndrome type 10 |
| SEQ2231 | Bardet-Biedl syndrome type 11 |
| SEQ2232 | Bardet-Biedl syndrome type 12 |
| SEQ2223 | Bardet-Biedl syndrome type 2 |
| SEQ2224 | Bardet-Biedl syndrome type 3 |
| SEQ2225 | Bardet-Biedl syndrome type 4 |
| SEQ2226 | Bardet-Biedl syndrome type 5 |
| SEQ2227 | Bardet-Biedl syndrome type 7 |
| SEQ2228 | Bardet-Biedl syndrome type 8 |
| SEQ2041 | Axenfeld-Riegeer syndrome type 1 |
| SEQ2221 | Bardet-Biedl syndrome type 1, p.Met390Arg gene BBS1 mutation |
| SEQ2222 | Bardet-Biedl syndrome type 1 |
| SEQ1661 | Thiamine-sensitive megaloblastic anemia syndrome |
| SEQ1515 | Alport syndrome (X-linked) |
| SEQ1471 | Alpha-Thalassemia |
| SEQ1371 | Adrenoleukodystrophy |
| SEQ1361 | Primary pigmented nodular adrenocortical disease |
| SEQ1362 | Primary pigmented nodular adrenocortical disease |
| SEQ1211 | Abetalipoproteinemia |
| SEQ1086 | Ataxia - Oculomotor apraxia type 4 / Epileptic encephalopathy of early childhood |
| SEQ1071 | Familial Hypercholesterolemia |
| SEQ1060 | Familial Pheochromocytoma |
| PRE6002 | Ambiguous genitalia |
| ONC4582 | MULTIPLE ENDOCRINE NEOPLASIA |
| MLP3501 | Von Hippel-Lindau syndrome |
| MLP3051 | kidney cysts and diabetes |
| MLP3101 | Resistance to insulin-like growth factor I |
| MLP2941 | Pendred syndrome |
| MLP2961 | Peutz-Jeghers syndrome |
| MLP2725 | Multiple endocrine neoplasia type IV |
| MLP2721 | Multiple endocrine neoplasia |
| MLP2571 | Syndromic microphthalmia type 3 |
| MLP2311 | Kallmann 1 syndrome |
| MLP2240 | Androgen insensitivity syndrome |
| MLP2111 | Hyperlipoproteinemia type I |
| MLP2121 | Congenital adrenal hyperplasia |
| MLP1645 | 1p36 deletion syndrome. |
| MLP1651 | Mitochondrial DNA depletion Syndrome |
| MLP1655 | Diabetes type MODY. |
| MLP1454 | X-linked Charcot-Marie-Tooth disease |
| MLP1401 | Gonadal dysgenesis |
| MLP1103 | MODY diabetes |
| MLP1211 | Beckwith-Wiedemann syndrome / Russell-Silver syndrome |
| MLP1096 | FANCA |
| EXN1177 | Familial thyroid dysmormogenesis |
| EXN1167 | Lymphatic Malformations and Related Diseases |
| EXN1164 | Hyperparathyroidism |
| EXN1139 | Monogenic obesity |
| EXN1130 | Hypogonadotropic hypogonadism |
| EXN1122 | Premature ovarian failure |
| EXN1124 | Septo-optic dysplasia |
| EXN1113 | Hypercalcaemia |
| EXN1118 | Lipodystrophies |
| EXN1106 | Short stature |
| EXN1089 | Familial hypercholesterolemia |
| EXN1090 | Bardet-Biedl syndrome |
| EXN1081 | Diabetes |
| EXN1069 | Combined pituitary hormones deficiency and hypothyroidism |
| As referências SEQ correspondem a estudos realizados utilizando o NIMSeq® | |
| As referências EXN correspondem a estudos realizados com ExoNIM® | |
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