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	rickets

Disease ID	707
Disease	rickets
Definition	Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances.
Synonym	hypovitaminosis d osteomalacia, infantile rachitides rachitis rickets (disorder) rickets [disease/finding] rickets, nos ricketts
DOID	DOID:10609
UMLS	C0035579
MeSH	D012279
SNOMED-CT	SNOMEDCT_US_2016_09_01:41345002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:87) C0042870 \| vitamin d defic \| 23 C0042870 \| vitamin d deficiency \| 23 C0011847 \| diabetes \| 6 C0028754 \| obesity \| 5 C0002170 \| alopecia \| 5 C0948265 \| metabolic syndrome \| 5 C0011860 \| type 2 diabetes \| 4 C0020503 \| secondary hyperparathyroidism \| 4 C0020757 \| ichthyosis \| 4 C0042373 \| vascular disease \| 4 C0020502 \| hyperparathyroidism \| 4 C0021831 \| bowel disease \| 3 C0035078 \| renal failure \| 3 C0029454 \| osteopetrosis \| 3 C0011849 \| diabetes mellitus \| 3 C0004153 \| atherosclerosis \| 3 C0021390 \| inflammatory bowel disease \| 3 C0015624 \| fanconi syndrome \| 3 C0007222 \| cardiovascular disease \| 3 C0162429 \| nutritional deficiency \| 2 C0221002 \| primary hyperparathyroidism \| 2 C0334082 \| epidermal nevus \| 2 C0162871 \| abdominal aortic aneurysm \| 2 C0003486 \| aortic aneurysm \| 2 C0010674 \| cystic fibrosis \| 2 C0029442 \| osteomalacia \| 2 C0004096 \| asthma \| 2 C0011860 \| type 2 diabetes mellitus \| 2 C0020437 \| hypercalcaemia \| 1 C0037274 \| skin disease \| 1 C0021053 \| immune disease \| 1 C0015624 \| proximal renal tubular dysfunction \| 1 C0035435 \| rheumatic diseases \| 1 C0079584 \| ichthyosis vulgaris \| 1 C0011880 \| diabetic ketoacidosis \| 1 C0029401 \| paget's disease \| 1 C0021831 \| intestinal diseases \| 1 C0162429 \| malnutrition \| 1 C0030353 \| papilledema \| 1 C0020538 \| hypertension \| 1 C0032285 \| pneumonia \| 1 C0006271 \| bronchiolitis \| 1 C0023895 \| liver disease \| 1 C0022661 \| chronic renal failure \| 1 C0020758 \| lamellar ichthyosis \| 1 C0085113 \| neurofibromatosis \| 1 C0268483 \| tyrosinemia \| 1 C0011854 \| type 1 diabetes mellitus \| 1 C0001815 \| myelofibrosis \| 1 C0024523 \| malabsorption \| 1 C0159020 \| neonatal convulsions \| 1 C0031090 \| periodontal disease \| 1 C0026848 \| muscular disorders \| 1 C0027765 \| neurological disease \| 1 C0042075 \| urological diseases \| 1 C0020758 \| congenital ichthyosis \| 1 C0030567 \| parkinson disease \| 1 C0007570 \| celiac disease \| 1 C0033687 \| proteinuria \| 1 C0001126 \| renal tubular acidosis \| 1 C0392525 \| nephrolithiasis \| 1 C0031069 \| familial mediterranean fever \| 1 C0011570 \| depression \| 1 C0497327 \| dementia \| 1 C0008370 \| cholestasis \| 1 C0017178 \| gastrointestinal diseases \| 1 C0037274 \| skin diseases \| 1 C0019555 \| developmental dysplasia of the hip \| 1 C0005411 \| biliary atresia \| 1 C0162429 \| dietary deficiency \| 1 C0021831 \| intestinal disease \| 1 C0011854 \| type 1 diabetes \| 1 C0003864 \| arthritis \| 1 C0022658 \| kidney disease \| 1 C0002395 \| alzheimer's disease \| 1 C0017178 \| gastrointestinal disease \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0027868 \| neuromuscular disorders \| 1 C0035435 \| rheumatic disease \| 1 C0022661 \| chronic kidney disease \| 1 C0409974 \| lupus erythematosus \| 1 C0016053 \| fibromyalgia \| 1 C0011407 \| pulpal necrosis \| 1 C0031090 \| periodontal diseases \| 1 C1565489 \| renal insufficiency \| 1 C0442874 \| neuropathy \| 1 C0019202 \| wilson's disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 5745 \| PTH1R \| CTD_human 5741 \| PTH \| CTD_human 7421 \| VDR \| CTD_human;GHR 1594 \| CYP27B1 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 7421 \| VDR \| CIPHER;CTD_human 5741 \| PTH \| CTD_human 1594 \| CYP27B1 \| CTD_human 5745 \| PTH1R \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:89) 36 \| ACADSB \| 1.689 \| DISEASES 55811 \| ADCY10 \| 3.267 \| DISEASES 174 \| AFP \| 1.169 \| DISEASES 249 \| ALPL \| 5.202 \| DISEASES 265 \| AMELX \| 2.134 \| DISEASES 401138 \| AMTN \| 1.971 \| DISEASES 23545 \| ATP6V0A2 \| 2.162 \| DISEASES 632 \| BGLAP \| 4.479 \| DISEASES 7809 \| BSND \| 1.65 \| DISEASES 80007 \| C10orf88 \| 3.443 \| DISEASES 796 \| CALCA \| 3.31 \| DISEASES 846 \| CASR \| 2.948 \| DISEASES 55755 \| CDK5RAP2 \| 1.279 \| DISEASES 26586 \| CKAP2 \| 2.448 \| DISEASES 1183 \| CLCN4 \| 1.344 \| DISEASES 1184 \| CLCN5 \| 5.327 \| DISEASES 1188 \| CLCNKB \| 1.399 \| DISEASES 56259 \| CTNNBL1 \| 1.009 \| DISEASES 1497 \| CTNS \| 2.589 \| DISEASES 120227 \| CYP2R1 \| 4.669 \| DISEASES 1717 \| DHCR7 \| 1.089 \| DISEASES 1747 \| DLX3 \| 1.019 \| DISEASES 1758 \| DMP1 \| 4.775 \| DISEASES 9718 \| ECE2 \| 1.249 \| DISEASES 128178 \| EDARADD \| 1.279 \| DISEASES 5167 \| ENPP1 \| 4.558 \| DISEASES 54757 \| FAM20A \| 1.33 \| DISEASES 56975 \| FAM20C \| 4.725 \| DISEASES 2232 \| FDXR \| 1.978 \| DISEASES 2258 \| FGF13 \| 2.424 \| DISEASES 2259 \| FGF14 \| 1.418 \| DISEASES 2248 \| FGF3 \| 1.96 \| DISEASES 2253 \| FGF8 \| 1.11 \| DISEASES 2260 \| FGFR1 \| 2.192 \| DISEASES 2263 \| FGFR2 \| 1.145 \| DISEASES 2261 \| FGFR3 \| 2.249 \| DISEASES 2591 \| GALNT3 \| 4.972 \| DISEASES 2638 \| GC \| 3.294 \| DISEASES 25801 \| GCA \| 1.097 \| DISEASES 9247 \| GCM2 \| 1.896 \| DISEASES 2778 \| GNAS \| 1.571 \| DISEASES 3250 \| HPR \| 2.842 \| DISEASES 3486 \| IGFBP3 \| 1.304 \| DISEASES 3640 \| INSL3 \| 1.43 \| DISEASES 9807 \| IP6K1 \| 1.758 \| DISEASES 51447 \| IP6K2 \| 1.775 \| DISEASES 3758 \| KCNJ1 \| 1.769 \| DISEASES 10656 \| KHDRBS3 \| 2.607 \| DISEASES 9365 \| KL \| 4.85 \| DISEASES 9735 \| KNTC1 \| 1.198 \| DISEASES 10319 \| LAMC3 \| 1.531 \| DISEASES 4014 \| LOR \| 1.238 \| DISEASES 56955 \| MEPE \| 5.799 \| DISEASES 8972 \| MGAM \| 2.545 \| DISEASES 4311 \| MME \| 2.295 \| DISEASES 55191 \| NADSYN1 \| 3.225 \| DISEASES 4952 \| OCRL \| 4.097 \| DISEASES 5828 \| PEX2 \| 1.258 \| DISEASES 5251 \| PHEX \| 7.533 \| DISEASES 5261 \| PHKG2 \| 2.481 \| DISEASES 162466 \| PHOSPHO1 \| 2.276 \| DISEASES 11201 \| POLI \| 1.2 \| DISEASES 5744 \| PTHLH \| 1.89 \| DISEASES 4920 \| ROR2 \| 1.092 \| DISEASES 860 \| RUNX2 \| 1.076 \| DISEASES 795 \| S100G \| 3.909 \| DISEASES 6303 \| SAT1 \| 1.25 \| DISEASES 51150 \| SDF4 \| 2.389 \| DISEASES 6424 \| SFRP4 \| 3.557 \| DISEASES 6557 \| SLC12A1 \| 1.165 \| DISEASES 6575 \| SLC20A2 \| 2.626 \| DISEASES 6514 \| SLC2A2 \| 3.597 \| DISEASES 6569 \| SLC34A1 \| 4.64 \| DISEASES 10568 \| SLC34A2 \| 1.803 \| DISEASES 142680 \| SLC34A3 \| 6.45 \| DISEASES 6524 \| SLC5A2 \| 1.22 \| DISEASES 133308 \| SLC9B2 \| 1.981 \| DISEASES 6611 \| SMS \| 1.36 \| DISEASES 29887 \| SNX10 \| 1.584 \| DISEASES 6657 \| SOX2 \| 1.044 \| DISEASES 6696 \| SPP1 \| 3.114 \| DISEASES 6708 \| SPTA1 \| 4.879 \| DISEASES 64426 \| SUDS3 \| 1.477 \| DISEASES 140803 \| TRPM6 \| 1.695 \| DISEASES 55503 \| TRPV6 \| 3.444 \| DISEASES 89910 \| UBE3B \| 1.655 \| DISEASES 8615 \| USO1 \| 1.385 \| DISEASES 7421 \| VDR \| 6.307 \| DISEASES 7784 \| ZP3 \| 1.021 \| DISEASES
Locus	(Waiting for update.)

Disease ID	707
Disease	rickets
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:84) HP:0100512 \| Vitamin D deficiency \| 23 HP:0002150 \| Hypercalcinuria \| 20 HP:0012531 \| Pain \| 7 HP:0008064 \| Ichthyosis \| 6 HP:0001513 \| Obesity \| 5 HP:0002148 \| Hypophosphataemia \| 5 HP:0001596 \| Hair loss \| 5 HP:0002901 \| Hypocalcemia \| 4 HP:0000867 \| Secondary hyperparathyroidism \| 4 HP:0000083 \| Renal insufficiency \| 4 HP:0000843 \| Hyperparathyroidism \| 4 HP:0003764 \| Naevus \| 4 HP:0000855 \| Insulin resistance \| 4 HP:0001941 \| acidemia \| 3 HP:0001510 \| Growth deficiency \| 3 HP:0002621 \| Atherosclerosis \| 3 HP:0000819 \| Diabetes mellitus \| 3 HP:0003418 \| Back pain \| 2 HP:0001268 \| Mental deterioration \| 2 HP:0002664 \| Neoplasia \| 2 HP:0000117 \| Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate \| 2 HP:0003109 \| Hyperphosphaturia \| 2 HP:0002749 \| Osteomalacia \| 2 HP:0012378 \| Fatigue \| 2 HP:0008200 \| Primary hyperparathyroidism \| 2 HP:0004942 \| Aortic aneurysm \| 2 HP:0002240 \| Enlarged liver \| 2 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0002099 \| Asthma \| 2 HP:0001942 \| Metabolic acidosis \| 2 HP:0001994 \| 'de toni-fanconi-debre' syndrome \| 2 HP:0010816 \| Epidermal nevus \| 2 HP:0011002 \| Osteopetrosis \| 2 HP:0004953 \| Abdominal aortic aneurysm \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0002355 \| Difficulty walking \| 1 HP:0002608 \| Celiac disease \| 1 HP:0000822 \| Hypertension \| 1 HP:0003231 \| Increased tyrosine in blood \| 1 HP:0030731 \| Carcinoma \| 1 HP:0000124 \| Renal tubular defect \| 1 HP:0012432 \| Chronic fatigue \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0002527 \| Falls \| 1 HP:0010815 \| Sebaceous naevus \| 1 HP:0007431 \| Congenital ichthyosis \| 1 HP:0005086 \| Knee osteoarthritis \| 1 HP:0002315 \| Headaches \| 1 HP:0003326 \| Muscle pain \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0001369 \| Arthritis \| 1 HP:0001508 \| Weight faltering \| 1 HP:0004395 \| Malnutrition \| 1 HP:0011950 \| Bronchiolitis \| 1 HP:0002024 \| Intestinal malabsorption \| 1 HP:0000938 \| Decreased bone mineral density \| 1 HP:0000726 \| Dementia \| 1 HP:0001252 \| Hypotonia \| 1 HP:0001396 \| Cholestasis \| 1 HP:0002829 \| Arthralgias \| 1 HP:0000716 \| Depression \| 1 HP:0001019 \| Exfoliative dermititis \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000114 \| Proximal tubular defect \| 1 HP:0000689 \| Misalignment of upper and lower dental arches \| 1 HP:0001947 \| Renal tubular acidosis \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0011974 \| Myelofibrosis \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0004416 \| Precocious atherosclerosis \| 1 HP:0003025 \| Frayed, irregular metaphyses \| 1 HP:0010817 \| Linear nevus sebaceous \| 1 HP:0001250 \| Seizures \| 1 HP:0001953 \| Diabetic ketosis \| 1 HP:0000093 \| Proteinuria \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002653 \| Bone pain \| 1 HP:0005912 \| Biliary duct atresia \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0001085 \| Papilledema \| 1 HP:0000787 \| Renal calculi \| 1 HP:0012622 \| Chronic kidney disease \| 1

Disease ID	707
Disease	rickets
Manually Symptom	UMLS \| Name(Total Manually Symptoms:29) C2364133 \| infection C2364118 \| weakness C1621895 \| adrenal hyperplasia C1510471 \| vitamin deficiency C1442871 \| craniosynostosis C1000483 \| anemia C0476273 \| respiratory distress C0426768 \| o sign C0376293 \| stigmata C0337289 \| epiphysiolysis C0282201 \| phosphate diabetes C0282201 \| hyperphosphaturia C0277792 \| pathognomonic sign C0264499 \| compression atelectasis C0242350 \| sexual impotence C0238621 \| aminoaciduria C0151723 \| hypomagnesemia C0040188 \| tic disorders C0039621 \| tetany C0029454 \| osteopetrosis C0029421 \| osteochondritis dissecans C0026848 \| myopathy C0026827 \| hypotonia C0020598 \| hypocalcemia C0020551 \| hyperthyroxinemia C0020502 \| hyperparathyroidism C0018802 \| congestive heart failure C0006705 \| disorders of calcium metabolism C0002871 \| anemias
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0020502 \| hyperparathyroidism \| 4 C0020503 \| secondary hyperparathyroidism \| 3 C0029454 \| osteopetrosis \| 2 C0426768 \| o sign \| 1 C0268079 \| hyperphosphaturia \| 1 C0476273 \| respiratory distress \| 1 C0026827 \| hypotonia \| 1

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs61495246	25942481	120227	CYP2R1	umls:C0035579	BeFree	CYP2R1 sequences were normal in 27 children with sporadic rickets, but missense mutations were identified in affected members of 2 of 12 families, a previously identified L99P, and a novel K242N.	0.001085767	2015	CYP2R1	11	14885847	A	G

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	707
Disease	rickets
Case	(Waiting for update.)

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