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 calcitriol and cod liver oil 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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32MalaCards, 14FMA
See all sources

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
Rickets. (24412049)
2014
2
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. (24176905)
2014
3
Cinacalcet as adjunctive therapy for hereditary 1,25-dihydroxyvitamin D-resistant rickets. (23212715)
2013
4
Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood. (23174215)
2013
5
X-linked hypophosphatemic rickets. (23848049)
2013
6
Hip fracture leading to the diagnosis of autosomal dominant hypophosphatemic rickets. A case report. (23989261)
2013
7
Response to Ayoub: letter to the editor; limitations of radiology in rickets. (23855731)
2013
8
Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. (22615579)
2012
9
New thoughts concerning the epidemic of rickets: was the role of alum overlooked? (21928131)
2012
10
Vitamin D and the immune system: beyond rickets. (22750284)
2012
11
Tertiary hyperparathyroidism in a patient with X-linked hypophosphatemic rickets. (21885902)
2011
12
Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II. (19921089)
2010
13
Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review. (20688626)
2010
14
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (20137773)
2010
15
Vitamin D deficiency rickets mimicking pseudohypoparathyroidism. (21274319)
2010
16
Nutritional rickets. (21274312)
2010
17
Alopecia in vitamin D-dependent rickets type II responding to 1I+-hydroxycholecalciferol. (21118628)
2010
18
Physiopathology of dental rickets in vitamin D receptor-ablated mice. (20929724)
2010
19
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. (19049339)
2009
20
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. (19309785)
2009
21
Vitamin D deficiency rickets and allegations of non-accidental injury. (19572990)
2009
22
The use of pre-operative imaging and intraoperative parathyroid hormone level to guide surgical management of tertiary hyperparathyroidism from X-linked hypophosphatemic rickets: a case report. (19918472)
2009
23
The effect of vitamin D treatment on serum adiponectin levels in children with vitamin D deficiency rickets. (21274306)
2009
24
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. (18701809)
2009
25
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. (18426327)
2008
26
Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. (18256372)
2008
27
Vitamin D &/or calcium deficiency rickets in infants & children: a global perspective. (18497438)
2008
28
Vitamin D and rickets beyond America. (19047550)
2008
29
X-linked hypophosphatemic rickets associated with respiratory failure. (18057152)
2008
30
Rickets: Prevention message is not getting through. (17585129)
2007
31
Rickets and the Fairfax family receipt books. (16893938)
2006
32
Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. (16303832)
2006
33
Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay? (16412249)
2006
34
Nutritional rickets: beyond the chief complaint. (16481931)
2006
35
Rickets: not a disease of the past. (16939184)
2006
36
Picture of the month. Nutritional rickets. (16953024)
2006
37
Evaluation of stature development during childhood and adolescence in individuals with familial hypophosphatemic rickets. (16244755)
2005
38
Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases]. (15935629)
2005
39
Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. (15972816)
2005
40
Calcium deficiency and causation of rickets in Ethiopian children. (16122079)
2005
41
An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. (12414538)
2002
42
Familial hypophosphatemic rickets]. (11778363)
2001
43
A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3). (11369766)
2001
44
Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction. (1655462)
1991
45
Osteocalcin in infants with rickets]. (2330270)
1990
46
Nephrocalcinosis and its relationship to treatment of hereditary rickets. (2822887)
1987
47
Father to son transmission in metaphyseal chondrodysplasia mimicking vitamin D resistant rickets. (6298812)
1982
48
Vitamin D-dependent rickets type II. (6770981)
1980
49
Structure of the osteocyte capsule in rats with hypervitaminosis-D and rickets. (1234824)
1975
50
Aminoaciduria in vitamin D deficiency states in premature infants and older infants with rickets. (13879029)
1962

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

About this section
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