MCID: RCK004
MIFTS: 67

Rickets malady

Metabolic diseases category

Summaries for Rickets

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8Disease Ontology, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 32MalaCards
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MedlinePlus:33 Rickets causes soft, weak bones in children. it usually occurs when they do not get enough vitamin d, which helps growing bones absorb the minerals calcium and phosphorous. it can also happen when calcium or phosphorus levels are too low. your child might not get enough vitamin d if he or she has dark skin spends too little time outside has on sunscreen all the time when out of doors doesn't eat foods containing vitamin d because of lactose intolerance or a strict vegetarian diet is breastfed without receiving vitamin d supplements can't make or use vitamin d because of a medical disorder such as celiac disease in addition to dietary rickets, children can get an inherited form of the disease. symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. your child's doctor uses lab and imaging tests to make the diagnosis. treatment is replacing the calcium, phosphorus, or vitamin d that are lacking in the diet. rickets is rare in the united states.

MalaCards: Rickets, also known as vitamin d-dependent rickets, is related to prostatitis and prostate cancer. An important gene associated with Rickets is PHEX (phosphate regulating endopeptidase homolog, X-linked), and among its related pathways are Type II Na+/Pi cotransporters and Osteoblast Signaling. The drugs cod liver oil and calcitriol and the compounds Calcidiol and calcitroic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and skin, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:8 A bone remodeling disease that has material basis in a vitamin d deficiency in children which results in softening and deformity located in bone.

NIH Rare Diseases:42 Rickets is a condition that causes children to have soft, weak bones. it usually occurs when children do not get enough vitamin d, which helps growing bones absorb important nutrients. vitamin d comes from sunlight and food. skin produces vitamin d in response to the sun's rays. some foods also contain vitamin d, including fortified dairy products and cereals, and some kinds of fish. last updated: 7/26/2013

Wikipedia:63 Rickets is defective mineralization of bones before epiphyseal closure in immature mammals due to... more...

Aliases & Classifications for Rickets

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

rickets 8 42 10 44 33 60
vitamin d-dependent rickets 8 60
vitamin d deficiency 44 60
vitamin d deficiency disease 42
vitamin-d deficiency rickets 42
nutritional rickets 42
hypovitaminosis d 42
rickets, active 8
active rickets 8
vitamin d 33


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Disease Ontology8 DOID:10609
MeSH34 D012279
NCIt39 C26878
ICD1025 E55, E55.0

Related Diseases for Rickets

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Rickets family:

Rickets Due to Defect in Vitamin D 25-Hydroxylation

Diseases related to Rickets via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 599)
idRelated DiseaseScoreTop Affiliating Genes
1prostatitis31.5VDR
2prostate cancer31.4BGLAP, SFRP4, DSPP, VDR, CYP24A1, CYP27B1
3psoriasis30.9CYP27B1, CYP24A1, VDR
4osteomalacia30.8CYP24A1, VDR, MEPE, DMP1, PHEX, SFRP4
5x-linked hypophosphatemia30.8GALNT8, PHEX, SLC34A1, SKA1, CLCN5, FGF23
6osteosarcoma30.6BGLAP, MEPE, VDR, CYP24A1, CYP27B1, PTH
7hypophosphatemic rickets, autosomal dominant30.6SFRP4, PHEX, MEPE, FGF23
8graves' disease30.5FGF23, CYP27B1, VDR, BGLAP
9hypophosphatemia30.5PTH, SLC34A3, SLC34A1, CLCN5, FGF23, CYP27B1
10rickets, vitamin d-resistant, type iia30.5CYP27B1, VDR
11atherosclerosis30.5ENPP1, FGF23, CYP27A1
12nephrocalcinosis30.5SLC34A3, SLC34A1, CLCN5, PHEX
13hyperparathyroidism30.5BGLAP, PHEX, VDR, CYP27B1, FGF23, PTH
14hypoparathyroidism30.3BGLAP, FGF23, PTH
15diabetes mellitus30.3BGLAP, VDR, CYP27B1, PTH, ENPP1
16calcinosis30.3FGF23, PTH, ENPP1
17hypercalcemia30.3PTH, FGF23, CYP27B1, VDR, BGLAP
18asthma30.3VDR, CYP24A1
19osteoarthritis30.3ENPP1, VDR, DSPP, BGLAP
20vitamin d-dependent rickets type ii30.2CYP27B1, VDR
21renal osteodystrophy30.2BGLAP, VDR, FGF23, PTH
22craniosynostosis30.2ENPP1
23hyperphosphatemia30.1SFRP4, VDR, FGF23, SLC34A1, PTH
24chronic kidney failure30.1BGLAP, SFRP4, PHEX, VDR, CYP27B1, FGF23
25obesity30.1ENPP1
26hypophosphatemic rickets with hypercalciuria30.1SLC34A3
27mccune albright syndrome30.1FGF23
28nephrolithiasis30.0VDR, FGF23, CLCN5, SLC34A1, SLC34A3, PTH
29hyperostosis29.9FGF23, BGLAP
30dentinogenesis imperfecta29.9DSPP, MEPE, DMP1
31addison's disease29.9CYP27B1
32secondary syphilis29.9BGLAP, PHEX, VDR, CYP27B1, FGF23, PTH
33hypervitaminosis d29.8FGF23, CYP27B1
34primary hyperparathyroidism29.8BGLAP, VDR, CYP27B1, FGF23, PTH
35osteitis fibrosa29.8BGLAP, PTH
36hypophosphatasia29.8ENPP1, DSPP
37uremia29.6ENPP1, PTH, VDR
38parathyroid adenoma29.6VDR, PTH
39cerebrotendinous xanthomatosis29.6CYP27A1, FDX1
40hyperthyroidism29.6BGLAP, FGF23, PTH
41osteoporosis29.6BGLAP, MEPE, VDR, CYP24A1, CYP27B1, FGF23
42basal cell carcinoma29.6CYP27B1, CYP24A1, VDR
43colon cancer10.7
44colorectal cancer10.7
45melanoma10.6
46leukemia10.6
47pulmonary tuberculosis10.5
48inflammatory bowel disease10.5
49ovarian cancer10.5
50kidney disease10.5

Graphical network of the top 20 diseases related to Rickets:



Diseases related to rickets

Clinical Features for Rickets

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Drugs & Therapeutics for Rickets

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Rickets

Drug clinical trials:

Search ClinicalTrials for Rickets

Search NIH Clinical Center for Rickets

Search CenterWatch for Rickets

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Rickets

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Anatomical Context for Rickets

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Sources:
32MalaCards, 14FMA
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MalaCards organs/tissues related to Rickets:

32
Bone, Skin, Testes, Liver, Breast, Heart, Kidney

FMA organs/tissues related to Rickets:

14
Bone

Animal Models for Rickets or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Rickets:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.3PHEX, DMP1, FGF23
2MP:000538210.3DMP1, DSPP, VDR, CLCN5, PTH, PHEX
3MP:000536710.2SFRP4, PHEX, VDR, CYP24A1, CYP27B1, FGF23
4MP:000539010.2ENPP1, PHEX, DMP1, MEPE, VDR, CYP24A1
5MP:000537610.1SFRP4, PHEX, VDR, CYP24A1, CYP27B1, CYP27A1
6MP:00053789.8SFRP4, PHEX, VDR, CYP24A1, CYP27B1, FGF23

Publications for Rickets

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Sources:
50PubMed
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Articles related to Rickets:

(show top 50)    (show all 753)
idTitleAuthorsYear
1
Ideology and disease identity: the politics of rickets, 1929-1982. (23918817)
2013
2
Prevalence of classic signs and symptoms of rickets and vitamin D deficiency in Mongolian children and women. (23123493)
2013
3
Treatment of Hypophosphatemic Rickets with Phosphate and Active Vitamin D in Japan: A Questionnaire-based Survey. (23966755)
2013
4
Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets. (22713460)
2012
5
The association between childhood rickets and nonaffective psychosis: a Danish record-linkage study. (22445669)
2012
6
Periapical and endodontic status of permanent teeth in patients with hypophosphatemic rickets. (21902707)
2012
7
Rickets associated with ichthyosis. (22595223)
2012
8
Rickets. (21730812)
2011
9
Periodontal status of patients with hypophosphatemic rickets: a case series. (21417586)
2011
10
Case report: hypophosphatemic rickets and aggressive periodontitis: a review of the role of dentine matrix protein 1 in the pathogenesis. (21299946)
2011
11
The renin-angiotensin system, blood pressure, and heart structure in patients with hereditary vitamin D-resistance rickets (HVDRR). (21590741)
2011
12
Novel PHEX gene mutation associated with X linked hypophosphatemic rickets. (20664300)
2010
13
Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets. (20217432)
2010
14
Hypocalcaemic fit in an adolescent boy with undiagnosed rickets. (22242048)
2010
15
Maternal vitamin D status: implications for the development of infantile nutritional rickets. (20511053)
2010
16
Doing the month: rickets and post-partum convalescence in rural China. (18276049)
2009
17
Hypocalcemic rickets and dilated cardiomyopathy: case reports and review of literature. (19387720)
2009
18
X-linked hypophosphatemic rickets and craniosynostosis. (19242361)
2009
19
High frequencies of elevated alkaline phosphatase activity and rickets exist in extremely low birth weight infants despite current nutritional support. (19640269)
2009
20
Epidemiology of nutritional rickets in children. (19237815)
2009
21
Bilateral femoral insufficiency fractures presenting as knee pain in a patient with hypophosphatemic vitamin D-resistant rickets. (18716696)
2008
22
Rickets of prematurity- a case report. (19169349)
2008
23
Rickets vs. abuse: a national and international epidemic. (18810424)
2008
24
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. (18480181)
2008
25
Oral findings of hypophosphatemic vitamin D-resistant rickets: report of two cases. (17825183)
2007
26
Determining the nutritional cause of rickets in children. (17323706)
2007
27
Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers. (17106204)
2007
28
Milk allergy and vitamin D deficiency rickets: a common disorder associated with an uncommon disease. (16680934)
2006
29
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets. (16636593)
2006
30
The re-emerging burden of rickets: a decade of experience from Sydney. (15956045)
2006
31
Rickets and vitamin D deficiency in children and adolescents. (16085158)
2005
32
A clinical and molecular genetic study of hypophosphatemic rickets in children. (16055933)
2005
33
Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. (15976027)
2005
34
Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases. (16363350)
2005
35
Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF-23-producing tumour of the distal ulna. (15121023)
2004
36
Vitamin D-dependent rickets Type II with alopecia: two case reports and review of the literature. (12956677)
2003
37
Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation. (12786855)
2003
38
Musculoskeletal manifestations of osteomalacia and rickets. (15123051)
2003
39
First place winner. Recurrent febrile seizures: an unusual presentation of nutritional rickets. (12480016)
2002
40
Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene. (11208993)
2001
41
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. (11004247)
2000
42
No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. (10566658)
1999
43
The PEX gene: its role in X-linked rickets, osteomalacia, and bone mineral metabolism. (9386970)
1997
44
Vitamin-D dependent rickets type II. (8772913)
1996
45
Linear sebaceous naevus syndrome with oncogenic rickets and diffuse pulmonary angiomatosis. (8459389)
1993
46
Flanking markers define the X-linked hypophosphatemic rickets gene locus. (8237485)
1993
47
Rickets in Nigerian children: a consequence of calcium malnutrition. (1988779)
1991
48
Hereditary tyrosinemia of chronic course without rickets and renal tubular dysfunction. (2267924)
1990
49
Radiographic findings resembling scurvy and rickets in prematures on hyperalimentation. (6789147)
1981
50
Renal hyperparathyroidism or renal rickets, renal dwarfism, renal infantilism, renal osteitis fibrosa cystica. (15390727)
1949

Genetic Variations for Rickets

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Expression for genes affiliated with Rickets

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rickets

Search GEO for disease gene expression data for Rickets.

Pathways for genes affiliated with Rickets

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Pathways related to Rickets according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4SLC34A3, SLC34A1
210.4PTH, FGF23
310.4CYP27B1, CYP24A1, VDR
4
Hide members
10.4CYP24A1, CYP27B1, CYP2R1
5
Hide members
10.4CYP2R1, CYP27B1, CYP24A1
6
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
10.4BGLAP, VDR, PTH
7
Hide members
10.3CYP24A1, CYP27B1, CYP27A1, CYP2R1
8
Hide members
10.3CYP24A1, CYP27B1, CYP27A1, CYP2R1
9
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.3BGLAP, VDR, CYP24A1, CYP27B1, PTH
10
Vitamin D2 (ergocalciferol) metabolism
Hide members
10.3PTH, CYP2R1, CYP27A1, CYP27B1, CYP24A1, VDR
11
Hide members
10.2FDX1, CYP24A1, CYP27B1, CYP27A1, CYP2R1, GALNT8

Compounds for genes affiliated with Rickets

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Sources:
11DrugBank, 24HMDB, 44Novoseek, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB
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Compounds related to Rickets according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1Calcidiol11 2411.8VDR, CYP24A1, CYP27B1
2calcitroic acid4410.8CYP24A1, VDR
3calcifediol5910.8VDR, CYP27B1
4calcium carbonate4410.8PTH, BGLAP
5doxercalciferol4410.8VDR, CYP27A1, PTH
624(r),25-dihydroxyvitamin d34410.8VDR, BGLAP
7gemini4410.8VDR, CYP27B1
8paricalcitol44 1111.8VDR, CYP24A1, CYP27B1, PTH
91,25(oh)2-16-ene-23-yne-d34410.8BGLAP, VDR
107-dehydrocholesterol44 2411.7CYP27A1, CYP24A1, VDR
1124,25-dihydroxyvitamin d34410.7BGLAP, VDR, CYP24A1, CYP27B1
12Cholecalciferol1110.7VDR, CYP27A1, CYP2R1
13sevelamer4410.7FGF23, BGLAP
14calcipotriol44 59 28 1113.7BGLAP, VDR, CYP24A1, CYP27B1
15Corticotropin1110.7CYP27B1, CYP24A1
16Ergocalciferol11 2411.7VDR, CYP24A1, CYP27B1, CYP27A1, CYP2R1
17deoxypyridinoline4410.7BGLAP, VDR, PTH
18alfacalcidol44 59 1112.7BGLAP, VDR, CYP24A1, CYP27B1, CYP27A1
19eb 108944 5911.7BGLAP, VDR, CYP24A1, CYP27B1, CYP27A1
20alendronate44 49 1112.7BGLAP, DSPP, VDR, PTH
21hydroxyapatite4410.7BGLAP, DMP1, DSPP, FGF23, ENPP1
22kh 10604410.7BGLAP, VDR
23phosphorus4410.7BGLAP, PHEX, VDR, CYP27B1, FGF23, SLC34A1
24estrogen4410.7VDR
2522-oxacalcitriol4410.7BGLAP, VDR
26heme28 11 2412.6CYP24A1, CYP27B1, CYP27A1, CYP2R1
27cycloheximide4410.6PTH, FDX1
28nadph44 2411.6FDX1, CYP24A1, CYP27B1, CYP27A1, CYP2R1
29pge24410.6BGLAP, VDR, CYP24A1, CYP27B1, PTH
30tartrate4410.6DSPP, BGLAP
31creatinine4410.6PTH, CLCN5, FGF23, VDR, BGLAP
321,25 dihydroxy vitamin d34410.5FDX1, VDR, CYP24A1, CYP27B1, CYP27A1, FGF23
33dexamethasone44 49 28 1113.5BGLAP, DSPP, FDX1, VDR, CYP24A1, CYP27A1
34arginine4410.5BGLAP, DSPP, VDR, CYP27A1, FGF23, PTH
3525-hydroxyvitamin d4410.5BGLAP, SFRP4, FDX1, VDR, CYP24A1, CYP27B1
36sodium fluoride4410.5DSPP, BGLAP
37vitamin d4410.5BGLAP, PHEX, DMP1, DSPP, VDR, CYP24A1
38testosterone44 59 11 2413.5BGLAP, FDX1, VDR, CYP27B1, PTH
39calcitriol44 59 11 2413.5MEPE, DSPP, VDR, CYP24A1, CYP27B1, CYP27A1
40pamidronate44 49 1112.5BGLAP, PTH
41steroid4410.4FDX1, VDR, CYP24A1, CYP27B1, CYP27A1
42thiazide4410.4VDR, BGLAP
43polyglycolic acid4410.4BGLAP, DSPP
44calcium44 49 11 2413.3VDR, DSPP, DMP1, PHEX, GALNT8, SFRP4
45clodronate44 49 1112.3VDR, BGLAP
46forskolin44 49 1112.0FDX1, CYP24A1, CYP27B1, PTH

GO Terms for genes affiliated with Rickets

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16Gene Ontology
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Biological processes related to Rickets according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vitamin D 24-hydroxylase activityGO:01098010.7VDR, CYP27B1, FGF23
2vitamin D catabolic processGO:04236910.7CYP24A1, CYP27B1, FGF23
3cellular phosphate ion homeostasisGO:03064310.7FGF23, SLC34A3, ENPP1
4phosphate ion homeostasisGO:05506210.7SLC34A1, FGF23, SFRP4
5vitamin D metabolic processGO:04235910.7CYP2R1, CYP27B1, CYP24A1
6biomineral tissue developmentGO:03121410.7DMP1, MEPE, DSPP, ENPP1
7response to vitamin DGO:03328010.6CYP27B1, CYP24A1, BGLAP
8regulation of bone mineralizationGO:03050010.6BGLAP, CYP27B1, ENPP1
9decidualizationGO:04669710.6CYP27B1, VDR, SFRP4
10vitamin D receptor signaling pathwayGO:07056110.6CYP24A1, VDR
11skeletal system developmentGO:00150110.6PTH, VDR, DSPP, MEPE, PHEX, BGLAP
12vitamin metabolic processGO:00676610.6CYP24A1, CYP27B1, CYP2R1, ENPP1
13bone mineralizationGO:03028210.6CYP27B1, PHEX, BGLAP
14steroid metabolic processGO:00820210.5CYP2R1, CYP27B1, CYP24A1
15phosphate ion transportGO:00681710.5SLC34A3, SLC34A1
16xenobiotic metabolic processGO:00680510.5CYP24A1, CYP27B1, CYP27A1, CYP2R1
17positive regulation of keratinocyte differentiationGO:04561810.4VDR, CYP27B1
18phosphate-containing compound metabolic processGO:00679610.4ENPP1, FGF23
19bone remodelingGO:04684910.3ENPP1, SLC34A1
20negative regulation of bone mineralizationGO:03050210.1FGF23, MEPE

Molecular functions related to Rickets according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:01532110.4SLC34A3, SLC34A1
2iron ion bindingGO:00550610.3CYP2R1, CYP27A1, CYP27B1, CYP24A1, FDX1
3electron carrier activityGO:00905510.3FDX1, CYP24A1, CYP27B1, CYP27A1, CYP2R1
4heme bindingGO:02003710.2CYP24A1, CYP27B1, CYP27A1, CYP2R1
5vitamin D3 25-hydroxylase activityGO:03034310.1CYP2R1, CYP27A1

Products for genes affiliated with Rickets

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rickets

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet