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encyclopedia of Rare Disease Annotation for Precision Medicine

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	hypoparathyroidism

Disease ID	961
Disease	hypoparathyroidism
Definition	A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.
Synonym	deficiency of parathyrin deficiency of parathyroid hormone deficiency of pth hypoparathyroid hypoparathyroidism (disorder) hypoparathyroidism [disease/finding] hypoparathyroidism nos hypoparathyroidism nos (disorder) hypoparathyroidism, nos low parathyroid hormone
DOID	DOID:11199
UMLS	C0020626
MeSH	D007011
SNOMED-CT	SNOMEDCT_US_2016_09_01:36976004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:46) C0020437 \| hypercalcemia \| 3 C0085681 \| hyperphosphatemia \| 3 C0036202 \| sarcoidosis \| 2 C0039730 \| thalassemia \| 2 C0018801 \| heart failure \| 2 C1389280 \| basal ganglia calcification \| 2 C0019202 \| wilson's disease \| 2 C0040147 \| thyroiditis \| 2 C0021053 \| immune disease \| 2 C0022661 \| chronic kidney failure \| 1 C0025362 \| mental retardation \| 1 C0007133 \| papillary carcinoma \| 1 C0152021 \| congenital heart disease \| 1 C0018213 \| graves' disease \| 1 C0007115 \| thyroid ca \| 1 C0024141 \| systemic lupus erythematosus \| 1 C1333387 \| endocrine syndrome \| 1 C1389280 \| basal ganglia calcifications \| 1 C0018799 \| heart disease \| 1 C0041327 \| pulmonary tuberculosis \| 1 C0011644 \| scleroderma \| 1 C0035078 \| kidney failure \| 1 C0033806 \| pseudohypoparathyroidism \| 1 C0033860 \| psoriasis \| 1 C0024523 \| intestinal malabsorption \| 1 C0085655 \| polymyositis \| 1 C0878544 \| cardiomyopathy \| 1 C0007193 \| dilated cardiomyopathy \| 1 C0005940 \| bone disease \| 1 C0027709 \| nephrocalcinosis \| 1 C0014544 \| epilepsy \| 1 C0036421 \| systemic sclerosis \| 1 C0002170 \| alopecia \| 1 C0006666 \| calciphylaxis \| 1 C0024523 \| malabsorption \| 1 C0007115 \| thyroid cancer \| 1 C0155550 \| neural deafness \| 1 C0011882 \| diabetic neuropathy \| 1 C0003467 \| anxiety \| 1 C0018784 \| sensorineural deafness \| 1 C0006663 \| calcinosis \| 1 C0024523 \| malabsorption syndrome \| 1 C0409974 \| lupus erythematosus \| 1 C0020502 \| hyperparathyroidism \| 1 C0038238 \| steatorrhea \| 1 C1744558 \| t-cell deficiency \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 846 \| CASR \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 326 \| AIRE \| CIPHER 846 \| CASR \| CIPHER;CTD_human 1493 \| CTLA4 \| CIPHER 9247 \| GCM2 \| CIPHER 26191 \| PTPN22 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:65) 55811 \| ADCY10 \| 2.552 \| DISEASES 249 \| ALPL \| 1.17 \| DISEASES 250 \| ALPP \| 1.674 \| DISEASES 23200 \| ATP11B \| 2.743 \| DISEASES 286410 \| ATP11C \| 2.99 \| DISEASES 551 \| AVP \| 1.405 \| DISEASES 632 \| BGLAP \| 4.018 \| DISEASES 796 \| CALCA \| 4.564 \| DISEASES 846 \| CASR \| 6.141 \| DISEASES 79577 \| CDC73 \| 1.51 \| DISEASES 10659 \| CELF2 \| 1.302 \| DISEASES 55636 \| CHD7 \| 1.16 \| DISEASES 23562 \| CLDN14 \| 1.365 \| DISEASES 1758 \| DMP1 \| 1.555 \| DISEASES 1760 \| DMPK \| 1.081 \| DISEASES 1810 \| DR1 \| 2.349 \| DISEASES 63901 \| FAM111A \| 4.093 \| DISEASES 51571 \| FAM49B \| 1.932 \| DISEASES 2591 \| GALNT3 \| 1.772 \| DISEASES 2520 \| GAST \| 1.231 \| DISEASES 2625 \| GATA3 \| 5.3 \| DISEASES 9247 \| GCM2 \| 5.71 \| DISEASES 2778 \| GNAS \| 3.505 \| DISEASES 3032 \| HADHB \| 2.985 \| DISEASES 3043 \| HBB \| 3.723 \| DISEASES 50616 \| IL22 \| 1.061 \| DISEASES 102723508 \| KANTR \| 2.095 \| DISEASES 9735 \| KNTC1 \| 1.346 \| DISEASES 3988 \| LIPA \| 1.323 \| DISEASES 23263 \| MCF2L \| 2.074 \| DISEASES 4221 \| MEN1 \| 3.639 \| DISEASES 8972 \| MGAM \| 3.78 \| DISEASES 126206 \| NLRP5 \| 4.381 \| DISEASES 170685 \| NUDT10 \| 3.942 \| DISEASES 5075 \| PAX1 \| 1.178 \| DISEASES 5164 \| PDK2 \| 1.509 \| DISEASES 10908 \| PNPLA6 \| 1.257 \| DISEASES 112476 \| PRRT2 \| 1.893 \| DISEASES 5710 \| PSMD4 \| 1.226 \| DISEASES 5745 \| PTH1R \| 2.359 \| DISEASES 5744 \| PTHLH \| 3.472 \| DISEASES 5979 \| RET \| 3.127 \| DISEASES 27246 \| RNF115 \| 1.812 \| DISEASES 6152 \| RPL24 \| 2.025 \| DISEASES 6158 \| RPL28 \| 1.737 \| DISEASES 6559 \| SLC12A3 \| 1.884 \| DISEASES 6512 \| SLC1A7 \| 1.488 \| DISEASES 6575 \| SLC20A2 \| 1.883 \| DISEASES 6569 \| SLC34A1 \| 2.005 \| DISEASES 6658 \| SOX3 \| 2.834 \| DISEASES 8675 \| STX16 \| 2.277 \| DISEASES 64426 \| SUDS3 \| 1.625 \| DISEASES 6902 \| TBCA \| 1.478 \| DISEASES 6904 \| TBCD \| 1.561 \| DISEASES 6905 \| TBCE \| 5.764 \| DISEASES 6899 \| TBX1 \| 2.486 \| DISEASES 6996 \| TDG \| 1.029 \| DISEASES 100134934 \| TEN1 \| 1.378 \| DISEASES 284486 \| THEM5 \| 2.022 \| DISEASES 8718 \| TNFRSF25 \| 1.76 \| DISEASES 8805 \| TRIM24 \| 2.345 \| DISEASES 140803 \| TRPM6 \| 3.375 \| DISEASES 7421 \| VDR \| 1.974 \| DISEASES 23414 \| ZFPM2 \| 1.968 \| DISEASES 7549 \| ZNF2 \| 3.3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	961
Disease	hypoparathyroidism
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:42) HP:0002901 \| Hypocalcemia \| 42 HP:0000365 \| Hearing impairment \| 6 HP:0002514 \| Intracranial calcifications \| 5 HP:0001250 \| Seizures \| 5 HP:0002917 \| Low blood magnesium levels \| 4 HP:0002905 \| Hyperphosphatemia \| 3 HP:0003072 \| Hypercalcemia \| 3 HP:0002135 \| Basal ganglia calcification \| 2 HP:0002071 \| Extrapyramidal dysfunction \| 2 HP:0100646 \| Thyroiditis \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0001635 \| Congestive heart failure \| 2 HP:0001281 \| Tetany \| 2 HP:0000407 \| sensorineural hearing loss \| 1 HP:0200114 \| Metabolic alkalosis \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0010049 \| Metacarpal hypoplasia \| 1 HP:0002148 \| Hypophosphataemia \| 1 HP:0001596 \| Hair loss \| 1 HP:0012378 \| Fatigue \| 1 HP:0003761 \| Calcinosis \| 1 HP:0002024 \| Intestinal malabsorption \| 1 HP:0000843 \| Hyperparathyroidism \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002287 \| Progressive alopecia \| 1 HP:0003401 \| Paresthesia \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0000739 \| Anxiety \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0001945 \| Fever \| 1 HP:0000952 \| Yellow skin \| 1 HP:0002570 \| Steatorrhea \| 1 HP:0000852 \| Pseudohypoparathyroidism \| 1 HP:0008249 \| Large thyroid \| 1 HP:0008208 \| Parathyroid hyperplasia \| 1 HP:0003765 \| Psoriasis \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0002197 \| Generalized seizures \| 1 HP:0001948 \| Alkalosis \| 1 HP:0000121 \| Nephrocalcinosis \| 1 HP:0001249 \| Mental retardation \| 1

Disease ID	961
Disease	hypoparathyroidism
Manually Symptom	UMLS \| Name(Total Manually Symptoms:51) C2697391 \| rheumatoid arthritis C2697310 \| sarcoidosis C2183399 \| stupor C1963138 \| hypertension C1963101 \| encephalopathy C1521736 \| parkinson's disease C1389280 \| calcification of the basal ganglia C1389280 \| basal ganglia calcification C1384665 \| hemochromatosis C1368019 \| paget's disease C1096308 \| hypergonadism C0878544 \| myocardiopathy C0878544 \| cardiomyopathy C0752303 \| urological manifestations C0752303 \| urological manifestation C0751265 \| learning disabilities C0740394 \| hyperuricemia C0338437 \| neurocysticercosis C0262548 \| maternal hypothyroidism C0235270 \| keratopathy C0162309 \| adrenoleukomyeloneuropathy C0154162 \| riedel's thyroiditis C0085681 \| hyperphosphataemia C0039070 \| syncopes C0038238 \| steatorrhea C0038012 \| spondylitis C0037763 \| spasms C0037140 \| b virus infection C0033975 \| psychosis C0033860 \| psoriasis C0033845 \| pseudotumour cerebri C0029166 \| oral manifestations C0028961 \| oliguria C0027127 \| thomsen's disease C0027066 \| myoclonus C0023066 \| laryngospasm C0020598 \| hypocalcemia C0020438 \| hypercalciuria C0020437 \| hypercalcemia C0019202 \| wilson's disease C0018802 \| congestive heart failure C0018801 \| heart failure C0018784 \| sensorineural hearing loss C0010823 \| cytomegalic inclusion disease C0008489 \| choreiform movements C0007760 \| cerebellar syndrome C0006845 \| chronic mucocutaneous candidiasis C0006663 \| calcinosis C0004364 \| autoimmune diseases C0002063 \| alkalosis C0000744 \| mtp deficiency
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:12) C0020598 \| hypocalcemia \| 27 C0019202 \| wilson's disease \| 2 C0004364 \| autoimmune diseases \| 2 C1389280 \| basal ganglia calcification \| 2 C0018801 \| heart failure \| 2 C0154162 \| riedel's thyroiditis \| 2 C0020437 \| hypercalcemia \| 2 C0036202 \| sarcoidosis \| 2 C0878544 \| cardiomyopathy \| 1 C0033860 \| psoriasis \| 1 C0006663 \| calcinosis \| 1 C0038238 \| steatorrhea \| 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	961
Disease	hypoparathyroidism
Case	(Waiting for update.)

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