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encyclopedia of Rare Disease Annotation for Precision Medicine

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	diabetes insipidus

Disease ID	682
Disease	diabetes insipidus
Definition	A disease that is characterized by frequent urination, excretion of large amounts of dilute URINE, and excessive THIRST. Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst.
Synonym	di di - diabetes insipidus diabete insipidus diabetes insipidus (disorder) diabetes insipidus [disease/finding] diabetes insipidus, nos
OMIM	OMIM:110500
DOID	DOID:9409
ICD10	ICD10CM:E23.2
UMLS	C0011848
MeSH	D003919
SNOMED-CT	SNOMEDCT_US_2016_09_01:15771004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:55) C0019621 \| langerhans cell histiocytosis \| 4 C0242343 \| panhypopituitarism \| 4 C0019618 \| histiocytosis \| 4 C0015624 \| fanconi's syndrome \| 3 C0032001 \| pituitary apoplexy \| 3 C0015624 \| fanconi syndrome \| 3 C0029124 \| optic atrophy \| 2 C0022658 \| renal disease \| 2 C0025309 \| meningoencephalitis \| 2 C0023470 \| myeloid leukemia \| 2 C0023418 \| leukemia \| 2 C0020635 \| hypopituitarism \| 2 C0206716 \| ganglioglioma \| 2 C0023467 \| acute myeloid leukemia \| 2 C0028754 \| obesity \| 1 C0242342 \| sheehan's syndrome \| 1 C0032002 \| pituitary disease \| 1 C0020437 \| hypercalcemia \| 1 C0376358 \| prostate cancer \| 1 C0001623 \| adrenal failure \| 1 C0024299 \| lymphoma \| 1 C0878544 \| cardiomyopathy \| 1 C0022679 \| cystic kidney \| 1 C0085413 \| adult polycystic kidney disease \| 1 C0027726 \| nephrotic syndrome \| 1 C0001623 \| adrenal insufficiency \| 1 C0024299 \| lymphomas \| 1 C0020502 \| hyperparathyroidism \| 1 C0742472 \| central nervous system lymphoma \| 1 C0011860 \| type 2 diabetes mellitus \| 1 C0001126 \| renal tubular acidosis \| 1 C0011860 \| type 2 diabetes \| 1 C0026618 \| dental fluorosis \| 1 C0036202 \| sarcoidosis \| 1 C0162739 \| hellp syndrome \| 1 C0022661 \| chronic renal disease \| 1 C0026764 \| multiple myeloma \| 1 C0242342 \| sheehan syndrome \| 1 C0152096 \| edwards syndrome \| 1 C0007682 \| central nervous system disease \| 1 C0013537 \| eclampsia \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0020538 \| hypertension \| 1 C0018799 \| cardiac disease \| 1 C0042075 \| uropathy \| 1 C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0020635 \| pituitary deficiency \| 1 C0022661 \| end-stage renal disease \| 1 C0035078 \| renal failure \| 1 C0020635 \| pituitary insufficiency \| 1 C1565489 \| renal insufficiency \| 1 C0009447 \| common variable immunodeficiency \| 1 C0022658 \| kidney disease \| 1 C0027765 \| nervous system disease \| 1 C0026986 \| myelodysplastic syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 551 \| AVP \| CTD_human;UniProtKB-KW 5443 \| POMC \| CTD_human 7466 \| WFS1 \| UniProtKB-KW 359 \| AQP2 \| UniProtKB-KW 554 \| AVPR2 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:50) 174 \| AFP \| 1.585 \| DISEASES 361 \| AQP4 \| 1.423 \| DISEASES 393 \| ARHGAP4 \| 1.792 \| DISEASES 551 \| AVP \| 7.667 \| DISEASES 554 \| AVPR2 \| 5.069 \| DISEASES 796 \| CALCA \| 1.827 \| DISEASES 885 \| CCK \| 1.488 \| DISEASES 9332 \| CD163 \| 1.119 \| DISEASES 50489 \| CD207 \| 1.999 \| DISEASES 1187 \| CLCNKA \| 2.645 \| DISEASES 1188 \| CLCNKB \| 1.645 \| DISEASES 1660 \| DHX9 \| 1.668 \| DISEASES 147409 \| DSG4 \| 2.972 \| DISEASES 1982 \| EIF4G2 \| 1.321 \| DISEASES 80712 \| ESX1 \| 2.971 \| DISEASES 2274 \| FHL2 \| 1.258 \| DISEASES 22862 \| FNDC3A \| 1.17 \| DISEASES 2304 \| FOXE1 \| 1.332 \| DISEASES 8325 \| FZD8 \| 1.449 \| DISEASES 2641 \| GCG \| 2.419 \| DISEASES 2736 \| GLI2 \| 2.393 \| DISEASES 2869 \| GRK5 \| 1.351 \| DISEASES 3030 \| HADHA \| 3.127 \| DISEASES 3309 \| HSPA5 \| 1.19 \| DISEASES 338376 \| IFNE \| 1.613 \| DISEASES 3758 \| KCNJ1 \| 1.455 \| DISEASES 3762 \| KCNJ5 \| 2.043 \| DISEASES 9851 \| KIAA0753 \| 1.121 \| DISEASES 9622 \| KLK4 \| 1.538 \| DISEASES 3953 \| LEPR \| 1.38 \| DISEASES 4288 \| MKI67 \| 1.252 \| DISEASES 4862 \| NPAS2 \| 1.115 \| DISEASES 594857 \| NPS \| 2.339 \| DISEASES 4929 \| NR4A2 \| 1.153 \| DISEASES 4923 \| NTSR1 \| 1.298 \| DISEASES 8505 \| PARG \| 1.217 \| DISEASES 63895 \| PIEZO2 \| 1.018 \| DISEASES 5449 \| POU1F1 \| 1.763 \| DISEASES 5530 \| PPP3CA \| 1.855 \| DISEASES 5631 \| PRPS1 \| 2.183 \| DISEASES 22895 \| RPH3A \| 1.96 \| DISEASES 866 \| SERPINA6 \| 1.399 \| DISEASES 6557 \| SLC12A1 \| 2.413 \| DISEASES 6559 \| SLC12A3 \| 1.002 \| DISEASES 503542 \| SPRN \| 1.153 \| DISEASES 92335 \| STRADA \| 1.574 \| DISEASES 6832 \| SUPV3L1 \| 1.802 \| DISEASES 117145 \| THEM4 \| 1.021 \| DISEASES 9652 \| TTC37 \| 1.331 \| DISEASES 7546 \| ZIC2 \| 2.572 \| DISEASES
Locus	(Waiting for update.)

Disease ID	682
Disease	diabetes insipidus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:50) HP:0000103 \| Polyuria \| 12 HP:0001959 \| Polydipsia \| 7 HP:0003228 \| High blood sodium levels \| 5 HP:0000871 \| Panhypopituitarism \| 4 HP:0100727 \| Histiocytosis \| 4 HP:0001909 \| Leukemia \| 2 HP:0040075 \| Hypopituitarism \| 2 HP:0002514 \| Intracranial calcifications \| 2 HP:0002653 \| Bone pain \| 2 HP:0000648 \| Optic-nerve degeneration \| 2 HP:0004808 \| Acute myelogenous leukemia \| 2 HP:0012324 \| Myeloid leukemia \| 2 HP:0100601 \| Eclampsia \| 1 HP:0001944 \| Dehydration \| 1 HP:0001399 \| Liver failure \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001945 \| Fever \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0011106 \| Depleted blood volume \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0002665 \| Lymphoma \| 1 HP:0006573 \| Acute fatty liver \| 1 HP:0010749 \| Blepharochalasis \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0011450 \| CNS infection \| 1 HP:0000969 \| Dropsy \| 1 HP:0002902 \| Hyponatremia \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0000016 \| Urinary retention \| 1 HP:0001513 \| Obesity \| 1 HP:0030049 \| Brain abscess \| 1 HP:0011734 \| Central adrenal insufficiency \| 1 HP:0008341 \| Renal tubular acidosis, type I \| 1 HP:0002181 \| Cerebral edema \| 1 HP:0001947 \| Renal tubular acidosis \| 1 HP:0003470 \| Inability to move \| 1 HP:0011737 \| Tertiary adrenal insufficiency \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0012531 \| Pain \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0001941 \| acidemia \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0002150 \| Hypercalcinuria \| 1 HP:0030069 \| Primary central nervous system lymphoma \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0001622 \| Premature delivery \| 1

Disease ID	682
Disease	diabetes insipidus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:49) C2712335 \| dehydration C2697310 \| sarcoidosis C2003861 \| flushing C1879280 \| angiocentric t-cell lymphoma C1863767 \| m syndrome C1849156 \| spastic ataxia C1839611 \| n syndrome C1546654 \| granuloma C1546533 \| abscess C0878683 \| panhypopituitarism C0752244 \| rathke's cleft cyst C0595978 \| idiopathic megacolon C0346300 \| carcinoma of the pituitary gland C0271650 \| glucose intolerance C0242342 \| sheehan's syndrome C0234428 \| disturbances of consciousness C0232826 \| antidiuresis C0149925 \| small cell lung cancer C0085602 \| polydipsia C0043410 \| pseudotuberculosis C0043325 \| xanthomatosis C0041327 \| pulmonary tuberculosis C0040034 \| thrombocytopenia C0036421 \| systemic sclerosis C0034065 \| pulmonary embolism C0032617 \| polyuria C0032019 \| tumor of the pituitary gland C0029464 \| osteosclerosis C0026848 \| myopathy C0025193 \| melancholia C0024796 \| marfan's syndrome C0024299 \| malignant lymphoma C0023787 \| lipodystrophy C0023487 \| acute promyelocytic leukemia C0023381 \| histiocytosis x C0023138 \| laurence-moon-biedl syndrome C0020635 \| hypopituitarism C0020615 \| hypoglycemia C0020550 \| hyperthyroidism C0020428 \| hyperaldosteronism C0020295 \| hydronephrosis C0019621 \| langerhans cell histiocytosis C0019618 \| histiocytosis C0015300 \| exophthalmos C0014130 \| endocrinopathy C0011849 \| diabetes mellitus C0009492 \| compartment syndrome C0005683 \| bladder stones C0001403 \| addison's disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0032617 \| polyuria \| 12 C0085602 \| polydipsia \| 7 C0019621 \| langerhans cell histiocytosis \| 4 C0019618 \| histiocytosis \| 4 C0242343 \| panhypopituitarism \| 4 C0020635 \| hypopituitarism \| 2 C0011175 \| dehydration \| 1 C0242342 \| sheehan's syndrome \| 1 C1839611 \| n syndrome \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	682
Disease	diabetes insipidus
Case	(Waiting for update.)

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