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	osteomalacia

Disease ID	1268
Disease	osteomalacia
Definition	inadequate or delayed mineralization of osteoid in mature cortical and spongy bone.
Synonym	om - osteomalacia osteomalacia (disorder) osteomalacia [disease/finding] osteomalacia nos osteomalacia unspecified osteomalacia unspecified (disorder) osteomalacia, unspecified
DOID	DOID:10573
UMLS	C0029442
MeSH	D010018
SNOMED-CT	SNOMEDCT_US_2016_09_01:4598005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:29) C0042870 \| vitamin d defic \| 13 C0042870 \| vitamin d deficiency \| 13 C0029456 \| osteoporosis \| 5 C1334699 \| mesenchymal neoplasm \| 5 C0020502 \| hyperparathyroidism \| 3 C1334699 \| mesenchymal tumor \| 3 C0001126 \| renal tubular acidosis \| 2 C0015624 \| fanconi's syndrome \| 1 C0010346 \| crohn's disease \| 1 C0242292 \| mccune-albright syndrome \| 1 C0016063 \| osteitis fibrosa \| 1 C0001973 \| alcoholism \| 1 C0024523 \| malabsorption \| 1 C0031117 \| peripheral neuropathy \| 1 C0035078 \| renal failure \| 1 C0015624 \| fanconi syndrome \| 1 C0085113 \| neurofibromatosis \| 1 C0005940 \| bone disease \| 1 C0033860 \| psoriasis \| 1 C0020630 \| hypophosphatasia \| 1 C0022661 \| chronic renal failure \| 1 C0029401 \| paget's bone disease \| 1 C0242292 \| albright syndrome \| 1 C0035579 \| rickets \| 1 C0040156 \| thyrotoxicosis \| 1 C0007570 \| celiac disease \| 1 C0149521 \| chronic pancreatitis \| 1 C0442874 \| neuropathy \| 1 C0020503 \| secondary hyperparathyroidism \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7421 \| VDR \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:66) 1244 \| ABCC2 \| 1.481 \| DISEASES 55811 \| ADCY10 \| 3.119 \| DISEASES 249 \| ALPL \| 5.21 \| DISEASES 9179 \| AP4M1 \| 1.619 \| DISEASES 567 \| B2M \| 2.295 \| DISEASES 631 \| BFSP1 \| 1.512 \| DISEASES 632 \| BGLAP \| 4.9 \| DISEASES 633 \| BGN \| 1.068 \| DISEASES 650 \| BMP2 \| 1.396 \| DISEASES 796 \| CALCA \| 4.167 \| DISEASES 8573 \| CASK \| 1.09 \| DISEASES 846 \| CASR \| 2.068 \| DISEASES 22802 \| CLCA4 \| 1.026 \| DISEASES 1184 \| CLCN5 \| 2.794 \| DISEASES 8029 \| CUBN \| 1.474 \| DISEASES 120227 \| CYP2R1 \| 1.769 \| DISEASES 1576 \| CYP3A4 \| 1.581 \| DISEASES 1758 \| DMP1 \| 3.533 \| DISEASES 5167 \| ENPP1 \| 3.194 \| DISEASES 54757 \| FAM20A \| 1.518 \| DISEASES 56975 \| FAM20C \| 3.415 \| DISEASES 2232 \| FDXR \| 2.167 \| DISEASES 2258 \| FGF13 \| 1.996 \| DISEASES 2260 \| FGFR1 \| 2.658 \| DISEASES 2335 \| FN1 \| 2.065 \| DISEASES 2591 \| GALNT3 \| 4.508 \| DISEASES 2638 \| GC \| 3.136 \| DISEASES 9247 \| GCM2 \| 2.084 \| DISEASES 2778 \| GNAS \| 2.008 \| DISEASES 3043 \| HBB \| 1.327 \| DISEASES 3109 \| HLA-DMB \| 1.627 \| DISEASES 3250 \| HPR \| 1.138 \| DISEASES 3339 \| HSPG2 \| 1.313 \| DISEASES 81888 \| HYI \| 2.271 \| DISEASES 10656 \| KHDRBS3 \| 3.607 \| DISEASES 9365 \| KL \| 4.558 \| DISEASES 9735 \| KNTC1 \| 4.925 \| DISEASES 80740 \| LY6G6C \| 2.45 \| DISEASES 56955 \| MEPE \| 5.601 \| DISEASES 8972 \| MGAM \| 2.746 \| DISEASES 8856 \| NR1I2 \| 2.369 \| DISEASES 4952 \| OCRL \| 1.497 \| DISEASES 126014 \| OSCAR \| 1.713 \| DISEASES 5251 \| PHEX \| 5.96 \| DISEASES 162466 \| PHOSPHO1 \| 3.467 \| DISEASES 5744 \| PTHLH \| 2.531 \| DISEASES 860 \| RUNX2 \| 1.55 \| DISEASES 795 \| S100G \| 2.571 \| DISEASES 51150 \| SDF4 \| 1.884 \| DISEASES 6424 \| SFRP4 \| 4.152 \| DISEASES 6575 \| SLC20A2 \| 1.834 \| DISEASES 9356 \| SLC22A6 \| 1.963 \| DISEASES 6569 \| SLC34A1 \| 4.039 \| DISEASES 10568 \| SLC34A2 \| 1.034 \| DISEASES 142680 \| SLC34A3 \| 5.324 \| DISEASES 133308 \| SLC9B2 \| 2.169 \| DISEASES 23583 \| SMUG1 \| 2.079 \| DISEASES 6660 \| SOX5 \| 1.047 \| DISEASES 6696 \| SPP1 \| 2.742 \| DISEASES 6708 \| SPTA1 \| 4.752 \| DISEASES 55503 \| TRPV6 \| 2.811 \| DISEASES 27229 \| TUBGCP4 \| 1.364 \| DISEASES 7421 \| VDR \| 4.579 \| DISEASES 7436 \| VLDLR \| 1.365 \| DISEASES 9213 \| XPR1 \| 1.147 \| DISEASES 83744 \| ZNF484 \| 2.928 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1268
Disease	osteomalacia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:37) HP:0002664 \| Neoplasia \| 25 HP:0100512 \| Vitamin D deficiency \| 14 HP:0002148 \| Hypophosphataemia \| 11 HP:0012531 \| Pain \| 7 HP:0000939 \| Osteoporosis \| 7 HP:0002653 \| Bone pain \| 6 HP:0001324 \| Muscular weakness \| 4 HP:0001510 \| Growth deficiency \| 3 HP:0001947 \| Renal tubular acidosis \| 2 HP:0000843 \| Hyperparathyroidism \| 2 HP:0002757 \| Multiple fractures \| 2 HP:0006280 \| Chronic pancreas inflammation \| 1 HP:0100036 \| Pseudo-fractures \| 1 HP:0002515 \| Waddling gait \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0002527 \| Falls \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0002748 \| Rickets \| 1 HP:0003765 \| Psoriasis \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0000117 \| Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate \| 1 HP:0002608 \| Celiac disease \| 1 HP:0003323 \| Muscle weakness, progressive \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0003109 \| Hyperphosphaturia \| 1 HP:0001941 \| acidemia \| 1 HP:0000853 \| Goitre \| 1 HP:0001942 \| Metabolic acidosis \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0012378 \| Fatigue \| 1 HP:0002024 \| Intestinal malabsorption \| 1 HP:0002659 \| Increased tendency to fractures \| 1 HP:0002315 \| Headaches \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0003155 \| Hyperphosphatasia \| 1

Disease ID	1268
Disease	osteomalacia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:20) C2364118 \| weakness C1868653 \| calcific pancreatitis C1336052 \| spindle cell tumor C0600033 \| kyphoscoliosis C0442874 \| neuropathy C0345904 \| liver cancer C0341706 \| glycinuria C0271844 \| parathyroid hyperplasia C0268435 \| proximal renal tubular acidosis C0235394 \| wasting C0221002 \| primary hyperparathyroidism C0029417 \| osteoblastoma C0027831 \| neurofibromatosis 1 C0027809 \| neurinoma C0026846 \| muscle atrophy C0020503 \| secondary hyperparathyroidism C0020502 \| hyperparathyroidism C0013418 \| dystocia C0005940 \| bone disease C0002514 \| hyperaminoaciduria
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0004093 \| weakness \| 5 C0020502 \| hyperparathyroidism \| 2 C0005940 \| bone disease \| 1 C0442874 \| neuropathy \| 1 C0235394 \| wasting \| 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	1268
Disease	osteomalacia
Case	(Waiting for update.)

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