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what is 'vitamin D dependent rickets type 2 - inherited form of rickets '?
Definition for vitamin D dependent rickets type 2
http://www.emedicine.com/ped/topic2854.htm
do i have 'vitamin D dependent rickets type 2'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'vitamin D dependent rickets type 2'
1 - 5 of
10
diagnostic tests
Serum 1,25 dihydroxyvitamin D
active hormonal form of vitamin D
vitamin D dependent rickets type 2 and Serum 1,25 dihydroxyvitamin D
xray extremities
vitamin D dependent rickets type 2 and xray extremities
Chest X-ray
Radiological technique to image the chest
vitamin D dependent rickets type 2 and Chest X-ray
Serum 25-Hydroxyvitamin D
vitamin D dependent rickets type 2 and Serum 25-Hydroxyvitamin D
Serum Alkaline Phosphatase (ALP)
vitamin D dependent rickets type 2 and Serum Alkaline Phosphatase (ALP)
Serum Parathyroid hormone (PTH)
vitamin D dependent rickets type 2 and Serum Parathyroid hormone (PTH)
Serum calcium
vitamin D dependent rickets type 2 and Serum calcium
Serum ionized calcium
vitamin D dependent rickets type 2 and Serum ionized calcium
Serum phosphorus
vitamin D dependent rickets type 2 and Serum phosphorus
Serum Albumin
type of protein in human plasma
vitamin D dependent rickets type 2 and Serum Albumin
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therapeutic procedures for 'vitamin D dependent rickets type 2'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for vitamin D dependent rickets type 2:
therapeutic procedure search results for 'vitamin D dependent rickets type 2'
1 - 5 of
6
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Adequate Calcium Intake
vitamin D dependent rickets type 2 and Adequate Calcium Intake
Bracing
vitamin D dependent rickets type 2 and Bracing
Leg Braces
vitamin D dependent rickets type 2 and Leg Braces
Nutritional counseling
vitamin D dependent rickets type 2 and Nutritional counseling
Spinal Deformity Correction
vitamin D dependent rickets type 2 and Spinal Deformity Correction
diet modification
vitamin D dependent rickets type 2 and diet modification
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medications search results for 'vitamin D dependent rickets type 2'
1 - 2 of
2
medications
rankings are computer generated. please consult your health care provider.
calcium
vitamin D dependent rickets type 2 and calcium
calcitriol
vitamin D dependent rickets type 2 and calcitriol
web search results for 'vitamin D dependent rickets type 2'?
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Results
1 - 50
- vitamin D dependent rickets type 2
A unique mutation in the vitamin D receptor gene in three Japanese ...
Vitamin D-dependent rickets type II is a hereditary disease resulting from a defective vitamin D ... Exons 2 and 3 of the vitamin D receptor cDNA, which encode ...
http://www.ncbi.nlm.nih.gov/pubmed/1652893
www.ncbi.nlm.nih.gov
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summary
Vitamin D: Vitamin Deficiency, Dependency, and Toxicity: Merck Manual ...
Type I hereditary vitamin D?dependent rickets responds to 1,25(OH)2D 1 to 2 ?g po once/day. ... with type II hereditary vitamin D?dependent rickets respond to ...
http://www.merck.com/mmpe/sec01/ch004/ch004k.html
www.merck.com
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summary
Vitamin D - MayoClinic
Rickets and osteomalacia are classic vitamin D deficiency diseases. ... Type 2 diabetes : In recent studies, adults given vitamin D supplementation were ...
http://www.mayoclinic.com/health/vitamin-d/NS_patient-vitamind
www.mayoclinic.com
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summary
MedlinePlus Herbs and Supplements: Vitamin D
In children, vitamin D deficiency causes rickets, which results in skeletal ... AG, Lau J, Hu FB, et al. The role of vitamin D and calcium in type 2 diabetes. ...
http://www.nlm.nih.gov/medlineplus/druginfo/natural/patient-vitamind.html
www.nlm.nih.gov
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summary
Ergocalciferols(vitamin d) - NextBio
... transformed (hydroxylated) into one of two active forms via ... refractory rickets, also known as vitamin D resistant rickets, and familial hypophosphatemia. ...
http://www.nextbio.com/b/home/home.nb?q=vitamin+d
www.nextbio.com
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summary
Vitamin D - Wikipedia, the free encyclopedia
Vitamin D plays an important role in the maintenance of organ systems.[2] ... Vitamin D, cod-liver oil, sunlight, and rickets: a historical perspective" ...
http://en.wikipedia.org/wiki/Vitamin_D
en.wikipedia.org
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summary
Genomics|HuGENet|Reviews|Vitamin D and Osteoporosis
... mutations cause hereditary vitamin D resistant rickets, a rare autosomal ... concentration for 1,25(OH)2 vitamin D inhibition of PHA stimulated growth was ...
http://www.cdc.gov/genomics/hugenet/reviews/vitaminD.htm
www.cdc.gov
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summary
Vitamin D-dependent rickets type 2 in a four-month-old cat.
Vitamin D-dependent rickets type 2 in a four-month-old cat A 4-month-old male ... Substances: Vitamin D. Calcitriol. Calcium. PMID: 12564596 [PubMed - indexed ...
http://www.ncbi.nlm.nih.gov/pubmed/12564596
www.ncbi.nlm.nih.gov
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summary
Vitamin D - Wikipedia, the free encyclopedia
2 Biochemistry. 2.1 Production in the skin. 2.2 Vitamin D as a Vitamin ... fortification of milk products with vitamin D, rickets was a major public health ...
http://en.wikipedia.org/wiki/Vitamin_D_deficiency
en.wikipedia.org
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summary
Vitamin D-dependent rickets as a possible risk factor for multiple ...
BACKGROUND: Vitamin D-dependent rickets type I (VDDR I) (OMIM 264700) is a rare ... other hereditary rickets mutations that influence vitamin D metabolism could be ...
http://www.ncbi.nlm.nih.gov/pubmed/18541802
www.ncbi.nlm.nih.gov
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summary
Genomics|HuGENet|Reviews|References|Vitamin D and Osteoporosis|PubMed ...
... a novel mutation in hereditary vitamin D resistant rickets causing exon skipping. ... Polymorphisms in the vitamin D receptor- and collagen type Ia1 gene predict ...
http://www.cdc.gov/genomics/hugenet/reviews/tables/vitaminD_Ref.htm
www.cdc.gov
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summary
Rickets: not a disease of the past.
... vitamin D supplements beginning in the first two months of life to prevent ... Vitamin D-dependent rickets, type I is treated with vitamin D; management of ...
http://www.ncbi.nlm.nih.gov/pubmed/16939184
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for September, 2005
601769 VITAMIN D RECEPTOR; VDR. 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2 ... for 600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.2005
www.ncbi.nlm.nih.gov
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summary
Disorders of Calcium Concentration: Fluid and Electrolyte Metabolism ...
In type II vitamin D?dependent rickets, target organs cannot respond to 1,25(OH)2D. ... is not effective unless adequate dietary or supplemental Ca (1 to 2 g ...
http://www.merck.com/mmpe/print/sec12/ch156/ch156g.html
www.merck.com
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summary
OMIM Update List for August, 2005
277440 VITAMIN D-DEPENDENT RICKETS, TYPE II. 300052 DYSTROPHIN-RELATED PROTEIN 2; DRP2 ... 600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.2005
www.ncbi.nlm.nih.gov
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summary
Vitamins
There are two forms of vitamin D. Vitamin D3 is made in the body from a chemical ... blood sugar and lowering LDL in postmenopausal women with type 2 diabetes. ...
http://adam.about.com/reports/Vitamins.htm
adam.about.com
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summary
The vitamin D hormone and its nuclear receptor: molecular actions and ...
... hereditary hypocalcemic vitamin D-resistant rickets (HVDRR), natural mutations ... Because the AF-2 domains participate neither in VDR-RXR heterodimerization nor ...
http://www.ncbi.nlm.nih.gov/pubmed/9379138
www.ncbi.nlm.nih.gov
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summary
Calcitriol receptor - Wikipedia, the free encyclopedia
Mutations in this gene are associated with type II vitamin D-resistant rickets. ... Two mutations causing vitamin D resistant rickets: modelling on the basis of ...
http://en.wikipedia.org/wiki/Calcitriol_receptor
en.wikipedia.org
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The parathyroid glands and vitamin D -- Endocrinology -- NCBI Bookshelf
... of Ca2+ by an ATP-dependent calcium pump that pushes Ca2 ... Type 2 vitamin D resistance, otherwise known as hereditary vitamin D resistant rickets (VDRR) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=endocrin&part=A742
www.ncbi.nlm.nih.gov
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summary
Hypocalcaemia - Wikipedia, the free encyclopedia
Vitamin-D dependent rickets, type II. Pseudohypoparathyroidism. Deficient PTH ... of both calcium and vitamin-D (often as 1,25-(OH)2-D3, i.e. calcitriol) are ...
http://en.wikipedia.org/wiki/Hypocalcaemia
en.wikipedia.org
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summary
AceView: Gene:METTL1andCYP27B1, a comprehensive annotation of human ...
... of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=CYP27B1
www.ncbi.nlm.nih.gov
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summary
Duodenal calcium absorption in vitamin D receptor-knockout mice ...
Rickets and hyperparathyroidism caused by a defective vitamin D receptor (VDR) ... wild-type mice, a high calcium diet inhibited (>90%) and 1,25(OH)(2)D(3) ...
http://www.ncbi.nlm.nih.gov/pubmed/11687634
www.ncbi.nlm.nih.gov
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summary
Entrez Gene KL - GeneRIFs - Genetics Home Reference
... variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians. ... protein involved in mineral and vitamin D metabolism. Kidney Int. ...
http://ghr.nlm.nih.gov/locuslink=9365/show/GeneRIFs
ghr.nlm.nih.gov
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New York Methodist Hospital
... problems that often result in metabolic syndrome or type 2 diabetes. ... There are two forms of vitamin D. Vitamin D3 is made in the body from a chemical ...
http://nymethodist.adam.com/content.aspx?productId=10&pid=10&gid=000039
nymethodist.adam.com
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Health Information
There are two forms of vitamin D. Vitamin D3 is made in the body from a chemical ... blood sugar and lowering LDL in postmenopausal women with type 2 diabetes. ...
http://ssmhealth.adam.com/content.aspx?pid=10&gid=000039
ssmhealth.adam.com
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Drug Information for Vitamin D Oral - WebMD
... Parathyroid Hormone, Rickets, Rickets that is Dependent on Vitamin D Levels in ... Type 2 Diabetes Slideshow. 10 Gynecology Secrets. Anatomy of a Sore ...
http://www.webmd.com/drugs/drug-6414-Vitamin+D.aspx?drugid=6...
www.webmd.com
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summary
OMIM Update List for May, 2003
277420 VITAMIN D-DEPENDENT RICKETS, TYPE II ... 601769 VITAMIN D RECEPTOR; VDR. 603028 TOLL-LIKE RECEPTOR 2; TLR2 ... cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2003
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for October, 2008
277440 VITAMIN D-DEPENDENT RICKETS, TYPE II. 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2 ... 601769 VITAMIN D RECEPTOR; VDR. 602098 POLO-LIKE KINASE 1; PLK1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2008
www.ncbi.nlm.nih.gov
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OMIM Update List for July, 2004
... CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; ... 600081 VITAMIN D 25-HYDROXYLATION, RICKETS DUE TO DEFECT IN. 600147 MESENCHYME HOMEOBOX 1; MEOX1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2004
www.ncbi.nlm.nih.gov
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Rheumatoid Arthritis Glossary of Terms with Definitions on MedicineNet.com
2. ... Inflammation is now recognized as a type of nonspecific immune response. ... See the entire definition of Vitamin D. Wasting: 1. ...
http://www.medicinenet.com/rheumatoid_arthritis/glossary.htm
www.medicinenet.com
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summary
OMIM Update List for March, 2004
277410 VITAMIN B12 METABOLIC DEFECT, TYPE 2 ... VITAMIN D-DEPENDENT RICKETS, ... 123690 CRYSTALLIN, GAMMA-D; CRYGD. 123829 CYCLIN-DEPENDENT KINASE 4; CDK4 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2004
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for December, 2005
609797 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 2; BICD2 ... 277440 VITAMIN D-DEPENDENT RICKETS, TYPE II. 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2005
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for July, 2001
... cAMP-DEPENDENT, REGULATORY, TYPE II, ... 162200 NEUROFIBROMATOSIS, TYPE I; NF1. 189910 TRANSFER RNA SERINE 2; TRS2. 264700 PSEUDOVITAMIN D DEFICIENCY RICKETS ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2001
www.ncbi.nlm.nih.gov
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MCN consultation: Evidence Summary - Vitamin D review
... are few and synthesis of vitamin D is dependent on skin exposure to ... rickets and increased the number of vitamin D supplements dispensed two to three ...
http://www.nice.org.uk/nicemedia/pdf/MCN_Evidence_Summary-Vitamin_D_review.pdf
www.nice.org.uk
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summary
Nutrition - Wikipedia, the free encyclopedia
Vitamin D. Rickets. Hypervitaminosis D. Vitamin E. Hypervitaminosis E. Vitamin K. Hemorrhage ... all obese and most type 2 diabetic individuals have marked ...
http://en.wikipedia.org/wiki/Nutrition
en.wikipedia.org
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OMIM Update List for November, 2003
... TYPE IX, ALPHA-2; COL9A2 ... 264700 PSEUDOVITAMIN D DEFICIENCY RICKETS. 306955 HETEROTAXY, ... FAMILY 5 (SODIUM-DEPENDENT VITAMIN TRANSPORTER), MEMBER ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2003
www.ncbi.nlm.nih.gov
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OMIM Update List for January, 2009
151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 ... 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2009
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for June, 2003
277440 VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25 ... 604065 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1G SUBUNIT; CACNA1G ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2003
www.ncbi.nlm.nih.gov
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Cystic Fibrosis Glossary of Terms with Definitions on MedicineNet.com
2. ... Inflammation is now recognized as a type of nonspecific immune response. ... See the entire definition of Vitamin D ...
http://www.medicinenet.com/cystic_fibrosis/glossary.htm
www.medicinenet.com
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VDR - NextBio
Mutations in this gene are associated with type II vitamin D-resistant rickets. ... Activation of Sez-4 T-cell lymphoma cell line with IL-2, IL-15 or IL-21 ...
http://www.nextbio.com/b/home/home.nb?q=VDR
www.nextbio.com
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summary
www.nlm.nih.gov/research/umls/online learning/data files/MRDEF.RRF
... which is the active form of VITAMIN D in regulating bone growth and calcium metabolism. ... of vitamin D2 which is more active in curing rickets than its ...
http://www.nlm.nih.gov/research/umls/online%20learning/data%20files/MRDEF.RRF
www.nlm.nih.gov
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summary
OMIM Update List for January, 2003
264700 PSEUDOVITAMIN D DEFICIENCY RICKETS. 300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1 ... 277410 VITAMIN B12 METABOLIC DEFECT, TYPE 2 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2003
www.ncbi.nlm.nih.gov
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Drug Information for Calcitriol Oral - WebMD
Rickets, Rickets that is Dependent on Vitamin D Levels in the Body, Vitamin D ... In-Depth Coverage: Diabetes Type 2 | Depression Symptoms | Treating Your Child's ...
http://www.webmd.com/drugs/drug-7448-Calcitriol+Oral.aspx?dr...
www.webmd.com
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summary
Novel gene mutations in patients with 1alpha-hydroxylase deficiency ...
... deficiency, also known as vitamin D-dependent rickets type 1. None of the ... 2 they were unusually mild [mild hypocalcemia and normal serum 1,25-(OH)(2)D ...
http://www.ncbi.nlm.nih.gov/pubmed/12050193
www.ncbi.nlm.nih.gov
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summary
N C H S - Journal articles, 2002
Bethell CD, Read D, Neff J, Blumberg SJ, Stein RE, Sharp V, Newacheck PW. ... and fasting serum C-peptide are risk factors for developing type 2 diabetes. ...
http://www.cdc.gov/NCHS/products/pubs/journal/abstract02.htm
www.cdc.gov
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summary
AceView: gene:daf-12, a comprehensive annotation of human, mouse and ...
... VITAMIN D RECEPTOR (VDR; OMIM:601769, mutated in vitamin D-resistant rickets. ... Transcription produces 2 alternatively spliced mRNAs. ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=worm&q=daf-12
www.ncbi.nlm.nih.gov
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OMIM Update List for April, 1997
... VITAMIN D ... 277440 VITAMIN D-RESISTANT RICKETS: END-ORGAN UNRESPONSIVENESS TO 1,25 ... NON-INSULIN-DEPENDENT DIABETES MELLITUS 2; NIDDM2. 601442 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.1997
www.ncbi.nlm.nih.gov
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OMIM Update List for June, 1998
114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C ... 601769 VITAMIN D RECEPTOR; VDR. 601875 MOVED TO 601630 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.1998
www.ncbi.nlm.nih.gov
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MIM Gene map
Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3) REc. 11p15.2. INSC ... 2-p15.1. PTPN5, STEP. Protein tyrosine phosphatase, nonreceptor-type, 5 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l193525
www.ncbi.nlm.nih.gov
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summary
Tyrosinemia Type 1
... disease is pathognomonic of tyrosinemia type I. (2) Many ... Vitamin D deficiency (nutritional/genetic) Hypophosphatemic rickets. Vitamin D-dependent rickets ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
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quick facts
category
bone and mineral metabolism
genetic or congenital
frequency
rare (U.S.)
likelihood by age
likelyhood by duration of symptoms
some common symptoms
bones break easily
chest deformities
deformity skull
leg length discrepancy
some related diagnoses
Down's Syndrome
renal osteodystrophy
Noonan's Syndrome
achondroplasia
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