MCID: OST121
MIFTS: 46

Osteogenesis Imperfecta, Type Iv malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Iv

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Osteogenesis Imperfecta, Type Iv:

Name: Osteogenesis Imperfecta, Type Iv 50
Osteogenesis Imperfecta Type Iv 46 68 66
Osteogenesis Imperfecta with Normal Sclerae 46 68
Oi, Type Iv 68 48
Oi Type Iv 46 12
Oi Type 4 46 52
 
Common Variable Oi with Normal Sclerae 46
Osteogenesis Imperfecta Type 4 52
Osteogenesis Imperfecta 4 68
Oi-Iv 68
Oi4 68

Characteristics:

Orphanet epidemiological data:

52
oi type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Infancy,Neonatal

HPO:

62
osteogenesis imperfecta, type iv:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 166220
Orphanet52 ORPHA216820
ICD10 via Orphanet29 Q78.0
MESH via Orphanet38 C536045
UMLS via Orphanet67 C0268363
MedGen35 C0268363
MeSH37 D010013

Summaries for Osteogenesis Imperfecta, Type Iv

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NIH Rare Diseases:46 Osteogenesis imperfecta type iv (oi type iv) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. oi type iv is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. although signs and symptoms can vary, affected people may experience easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye). oi type iv is caused by changes (mutations) in the col1a1 or col1a2 gene and is inherited in an autosomal dominant manner. there is currently no cure for oi type iv. treatment is supportive and based on the signs and symptoms present in each person. last updated: 1/14/2016

MalaCards based summary: Osteogenesis Imperfecta, Type Iv, also known as osteogenesis imperfecta type iv, is related to common variable osteogenesis imperfecta with normal sclerae and infundibulo-neurohypophysitis, and has symptoms including blue sclerae, otosclerosis and hearing impairment. An important gene associated with Osteogenesis Imperfecta, Type Iv is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways are Inflammatory Response Pathway and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include bone and eye, and related mouse phenotypes are pigmentation and craniofacial.

UniProtKB/Swiss-Prot:68 Osteogenesis imperfecta 4: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.

OMIM:50 Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in... (166220) more...

Related Diseases for Osteogenesis Imperfecta, Type Iv

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Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Xvii osteogenesis imperfecta, type iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type I Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta Lepre1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

Diseases related to Osteogenesis Imperfecta, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1common variable osteogenesis imperfecta with normal sclerae11.3
2infundibulo-neurohypophysitis10.7COL1A1, COL1A2
3contractures-webbed neck-micrognathia-hypoplastic nipples syndrome10.6COL1A1, COL1A2
4prokr2-related isolated gonadotropin-releasing hormone deficiency10.6COL1A2, SERPINF1
5osteogenesis imperfecta10.6
6elliptocytosis 310.6COL1A1, COL1A2
7deafness, autosomal recessive 9110.6COL1A1, COL1A2
8osteogenesis imperfecta, type iv10.5COL1A1, COL1A2
9ehlers-danlos syndrome, classic type10.4COL1A1, COL1A2
10pex7-related refsum disease10.4CD36, COL1A1, COL1A2
11mental retardation, autosomal recessive 3510.4CD36, COL1A1, COL1A2
12descending colon cancer10.4COL1A1, COL1A2
13inflammatory bowel disease 2210.4FKBP10, SP7
14ceroid lipofuscinosis, neuronal, 1110.4CD36, COL1A1, COL1A2
15intracranial arteriovenous malformation10.4CD36, SPARC
16cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.4FKBP10, SERPINF1
17osteogenesis imperfecta, type vii10.3CD36, CRTAP
18hodgkin's lymphoma, lymphocytic-histiocytic predominance10.3COL1A1, COL1A2
19spermatogenic failure 1110.3FKBP10, SP7
20vulvovaginal candidiasis10.3COL1A1, COL1A2, SP7
21nail disorder, nonsyndromic congenital, 110.2SP7, SPARC
22epidural abscess10.2CD36, SERPINF1
23dyscalculia10.1COL1A2, WNT1
24aortic aneurysm, familial abdominal, 410.1FKBP10, SERPINF1, SP7
25mature cataract10.0COL1A2, DSPP
26gray platelet syndrome9.9CD36, SPARC
27ehlers-danlos syndrome, cardiac valvular form9.5CD36, COL1A1, COL1A2, CRTAP, PPIB
28ischemic bone disease9.3COL1A1, COL1A2, CRTAP, FKBP10, PPIB
29chylomicron retention disease9.1CD36, COL1A1, COL1A2, SP7, SPARC, WNT1
30diabetic foot ulcers8.9COL1A1, COL1A2, CRTAP, DSPP, FKBP10
31carnitine palmitoyltransferase ii deficiency8.8CD36, COL1A1, COL1A2, CRTAP, FKBP10, PPIB
32osteogenesis imperfecta, type ii8.2CD36, COL1A1, COL1A2, CRTAP, FKBP10, PPIB
33fetishism7.8COL1A1, COL1A2, CRTAP, FKBP10, PPIB, SERPINF1
34osteogenesis imperfecta, type iii5.9CD36, COL1A1, COL1A2, CRTAP, DSPP, FKBP10

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Iv:



Diseases related to osteogenesis imperfecta, type iv

Symptoms for Osteogenesis Imperfecta, Type Iv

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Symptoms by clinical synopsis from OMIM:

166220

Clinical features from OMIM:

166220

HPO human phenotypes related to Osteogenesis Imperfecta, Type Iv:

(show all 13)
id Description Frequency HPO Source Accession
1 blue sclerae 10% HP:0000592
2 otosclerosis HP:0000362
3 hearing impairment HP:0000365
4 dentinogenesis imperfecta HP:0000703
5 wormian bones HP:0002645
6 scoliosis HP:0002650
7 recurrent fractures HP:0002757
8 kyphosis HP:0002808
9 bowing of limbs due to multiple fractures HP:0003023
10 biconcave flattened vertebrae HP:0003321
11 short stature HP:0004322
12 reduced bone mineral density HP:0004349
13 femoral bowing present at birth, straightening with time HP:0005005

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iv

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Drugs for Osteogenesis Imperfecta, Type Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronatePhase 34440391-99-94674
Synonyms:
(3-AMINO-1-HYDROXY-1-PHOSPHONO-PROPYL)PHOSPHONIC ACID
(3-Amino-1-hydroxypropylidene)bisphosphonic acid
(3-Amino-1-hydroxypropylidene)diphosphonic acid
(3-amino-1-hydroxy-1-phosphonopropyl)phosphonic acid
(3-amino-1-hydroxypropane-1,1-diyl)bis(phosphonic acid)
(3-amino-1-hydroxypropylidene)-1,1-biphosphonate
(3-amino-1-hydroxypropylidene)-1,1-bisphosphonate
1-hydroxy-3-aminopropane-1,1-diphosphonic acid
3-Amino-1-hydroxypropylidene-1,1-diphosphonate
40391-99-9
57248-88-1
57248-88-1 (di-hydrochloride salt)
AC1L1IP4
AHPrBP
AKOS003599275
APD
Acide pamidronique
Acide pamidronique [INN-French]
Acido pamidronico
Acido pamidronico [INN-Spanish]
Acidum pamidronicum
Acidum pamidronicum [INN-Latin]
Amidronate
Aminomux
Aredia
BIDD:GT0538
Bisphosphonate 6
C019248
C07395
C3H11NO7P2
 
CHEMBL834
CID4674
ChemDiv1_025240
D07281
DB00282
EINECS 254-905-2
HMS2090C13
HMS658L06
HSCI1_000312
I14-2407
LS-174826
MolPort-002-131-054
NCGC00159433-02
NCGC00159433-03
Novartis brand of pamidronate disodium salt
PAMIDRONATE DISODIUM
PAMIDRONIC ACID
Pamidronate Disodium
Pamidronic acid
Pamidronic acid (INN)
Pamidronic acid [INN:BAN]
Ribodroat
Ribodroat (TN)
STOCK1N-12562
UNII-OYY3447OMC
amino-1-hydroxypropane-1,1-diphosphonate
aminohydroxypropylidene diphosphonate
aminopropanehydroxydiphosphonate
pamidronate
pamidronate calcium
pamidronate monosodium

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pamidronate to Treat Osteogenesis Imperfecta in ChildrenCompletedNCT00005901Phase 3
2Growth Hormone Therapy in Osteogenesis ImperfectaActive, not recruitingNCT00001305Phase 3
3Evaluation and Intervention for the Effects of Osteogenesis ImperfectaRecruitingNCT00001594

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Iv

Genetic Tests for Osteogenesis Imperfecta, Type Iv

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Anatomical Context for Osteogenesis Imperfecta, Type Iv

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MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Iv:

34
Bone, Eye

Animal Models for Osteogenesis Imperfecta, Type Iv or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5COL1A1, GGT1, SERPINF1, SPARC
2MP:00053828.9COL1A1, FKBP10, PPIB, SPARC, WNT1
3MP:00053717.7COL1A1, COL1A2, FKBP10, GGT1, PPIB, SP7
4MP:00053767.1CD36, COL1A1, COL1A2, FKBP10, GGT1, PPIB
5MP:00107686.9CD36, COL1A1, COL1A2, FKBP10, GGT1, PPIB
6MP:00053906.1CD36, COL1A1, COL1A2, CRTAP, FKBP10, GGT1

Publications for Osteogenesis Imperfecta, Type Iv

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Articles related to Osteogenesis Imperfecta, Type Iv:

(show all 16)
idTitleAuthorsYear
1
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV. (25835785)
2015
2
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. (23548243)
2013
3
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. (22795107)
2012
4
Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings. (22567450)
2011
5
Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B. (20613943)
2010
6
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. (19751715)
2009
7
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. (11793376)
2002
8
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. (11836364)
2002
9
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. (9600458)
1998
10
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation. (9367795)
1997
11
Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV. (8786065)
1996
12
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N- proteinase. (7982948)
1994
13
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. (1642148)
1992
14
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. (2064612)
1991
15
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. (2745420)
1989
16
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. (2897363)
1988

Variations for Osteogenesis Imperfecta, Type Iv

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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Iv:

68 (show all 31)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly353CysVAR_001652
2COL1A1p.Gly356CysVAR_001653
3COL1A1p.Gly383CysVAR_001654
4COL1A1p.Gly398AlaVAR_001657
5COL1A1p.Gly401CysVAR_001659
6COL1A1p.Gly527CysVAR_001665
7COL1A1p.Gly530SerVAR_001666
8COL1A1p.Gly560SerVAR_001668
9COL1A1p.Gly560CysVAR_001669
10COL1A1p.Gly593CysVAR_001673
11COL1A1p.Gly701CysVAR_001677
12COL1A1p.Gly1010SerVAR_001701
13COL1A1p.Gly1058SerVAR_001709
14COL1A1p.Gly1061SerVAR_001711
15COL1A1p.Gly197ArgVAR_063293
16COL1A1p.Gly257ArgVAR_063297
17COL1A1p.Gly338CysVAR_063303
18COL1A1p.Gly353SerVAR_063306
19COL1A1p.Gly683SerVAR_063320
20COL1A2p.Gly634ValVAR_001871
21COL1A2p.Gly676ValVAR_001875
22COL1A2p.Gly751SerVAR_001881rs72658176
23COL1A2p.Gly766ValVAR_001883
24COL1A2p.Gly892AspVAR_001892
25COL1A2p.Gly1012SerVAR_001897rs72659319
26COL1A2p.Gly1102ArgVAR_001902
27COL1A2p.Gly193SerVAR_063343rs72656370
28COL1A2p.Gly202ArgVAR_063344
29COL1A2p.Gly256ValVAR_063348
30COL1A2p.Gly325GluVAR_063351
31COL1A2p.Gly754CysVAR_063366

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Iv:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg)single nucleotide variantPathogenicrs72659319GRCh37Chr 7, 94055771: 94055771
2COL1A2NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys)single nucleotide variantPathogenicrs121912903GRCh37Chr 7, 94047108: 94047108
3COL1A2COL1A2, EX26DELdeletionPathogenic
4COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)single nucleotide variantPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
5COL1A2NM_000089.3(COL1A2): c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del)deletionPathogenicrs74315103GRCh37Chr 7, 94056950: 94056958
6COL1A2COL1A2, IVS21DS, G-A, +5deletionPathogenic
7COL1A2COL1A2, IVS26DS, A-G, +3single nucleotide variantPathogenic
8COL1A2NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala)single nucleotide variantPathogenicrs121912912GRCh37Chr 7, 94039778: 94039778
9COL1A1NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys)single nucleotide variantPathogenicrs66721653GRCh37Chr 17, 48273026: 48273026
10COL1A1NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser)single nucleotide variantPathogenicrs72653169GRCh37Chr 17, 48266281: 48266281
11COL1A1COL1A1, IVS8DS, G-A, +1single nucleotide variantPathogenic
12COL1A1COL1A1, 3-BP DEL, 1964GGCdeletionPathogenic
13COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic
14COL1A1NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter)single nucleotide variantPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784
15COL1A2NM_000089.3(COL1A2): c.1971+1G> Asingle nucleotide variantPathogenicrs72658151GRCh37Chr 7, 94047144: 94047144
16COL1A2NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp)single nucleotide variantPathogenicrs72658161GRCh37Chr 7, 94049564: 94049564
17COL1A2NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser)single nucleotide variantLikely pathogenicrs72659319GRCh38Chr 7, 94426459: 94426459
18COL1A2NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu)single nucleotide variantLikely pathogenicrs768171831GRCh38Chr 7, 94426011: 94426011

Expression for genes affiliated with Osteogenesis Imperfecta, Type Iv

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Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Iv.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Iv

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GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Iv

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Cellular components related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.6COL1A1, COL1A2
2macromolecular complexGO:003299110.3CRTAP, PPIB
3platelet alpha granule membraneGO:003109210.2CD36, SPARC
4endoplasmic reticulum lumenGO:00057888.3COL1A1, COL1A2, CRTAP, FKBP10, PPIB, WNT1
5proteinaceous extracellular matrixGO:00055788.2COL1A1, CRTAP, DSPP, SPARC, WNT1
6extracellular regionGO:00055767.6COL1A1, COL1A2, DSPP, SERPINF1, SPARC, WNT1
7extracellular spaceGO:00056157.2CD36, COL1A1, COL1A2, CRTAP, GGT1, SERPINF1

Biological processes related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.4COL1A1, COL1A2
2protein heterotrimerizationGO:007020810.4COL1A1, COL1A2
3collagen fibril organizationGO:003019910.1COL1A1, COL1A2
4protein peptidyl-prolyl isomerizationGO:000041310.1FKBP10, PPIB
5negative regulation of cell-substrate adhesionGO:00108129.9COL1A1, WNT1
6bone developmentGO:00603489.7PPIB, SPARC, WNT1
7chaperone-mediated protein foldingGO:00610779.5CRTAP, FKBP10, PPIB
8blood coagulationGO:00075969.4CD36, COL1A1, COL1A2
9skeletal system developmentGO:00015019.3COL1A1, COL1A2, DSPP
10ossificationGO:00015039.1COL1A1, DSPP, SPARC
11extracellular matrix organizationGO:00301988.9COL1A1, COL1A2, DSPP, SPARC

Molecular functions related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.2COL1A1, COL1A2
2extracellular matrix structural constituentGO:00052019.3COL1A1, COL1A2, DSPP
3collagen bindingGO:00055189.0DSPP, PPIB, SPARC

Sources for Osteogenesis Imperfecta, Type Iv

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet