OI8
MCID: OST118
MIFTS: 42

Osteogenesis Imperfecta, Type Viii (OI8)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Viii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Viii:

Name: Osteogenesis Imperfecta, Type Viii 56 13
Osteogenesis Imperfecta Type 8 12 52 29 6 15
Osteogenesis Imperfecta Type Viii 12 52 73 39
Oi8 56 12 52 73
Oi Type Viii 52 73
Osteogenesis Imperfecta 8 73
Oi, Type Viii 56
Oi-Viii 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
osteogenesis imperfecta, type viii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Viii

OMIM : 56 Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses. (610915)

MalaCards based summary : Osteogenesis Imperfecta, Type Viii, also known as osteogenesis imperfecta type 8, is related to osteogenesis imperfecta, type ii and brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type Viii is P3H1 (Prolyl 3-Hydroxylase 1), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include bone, and related phenotypes are global developmental delay and inguinal hernia

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the P3H1 gene on chromosome 1p34.2.

UniProtKB/Swiss-Prot : 73 Osteogenesis imperfecta 8: A 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. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest.

Related Diseases for Osteogenesis Imperfecta, Type Viii

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



Diseases related to Osteogenesis Imperfecta, Type Viii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Viii

Human phenotypes related to Osteogenesis Imperfecta, Type Viii:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 inguinal hernia 31 HP:0000023
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
5 osteopenia 31 HP:0000938
6 slender long bone 31 HP:0003100
7 joint laxity 31 HP:0001388
8 platyspondyly 31 HP:0000926
9 recurrent fractures 31 HP:0002757
10 proptosis 31 HP:0000520
11 round face 31 HP:0000311
12 wormian bones 31 HP:0002645
13 wide anterior fontanel 31 HP:0000260
14 short metacarpal 31 HP:0010049
15 delayed cranial suture closure 31 HP:0000270
16 disproportionate short-limb short stature 31 HP:0008873
17 decreased skull ossification 31 HP:0004331
18 thin ribs 31 HP:0000883
19 femoral bowing 31 HP:0002980
20 vertebral compression fractures 31 HP:0002953
21 tibial bowing 31 HP:0002982
22 radial bowing 31 HP:0002986
23 barrel-shaped chest 31 HP:0001552
24 multiple prenatal fractures 31 HP:0005855
25 externally rotated/abducted legs 31 HP:0003783
26 type 1 collagen overmodification 31 HP:0003784

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
platyspondyly
vertebral compression fractures

Head And Neck Eyes:
proptosis
white sclerae

Skeletal Skull:
wormian bones
poorly ossified skull

Skeletal Limbs:
femoral bowing
tibial bowing
radial bowing
externally rotated/abducted legs
thin, gracile long bones
more
Skeletal Hands:
short metacarpals
long phalanges

Neurologic Central Nervous System:
delayed development

Head And Neck Teeth:
no dentinogenesis imperfecta

Skeletal:
joint laxity
bone fragility
normal bone age
severe osteopenia
multiple fractures, present at birth

Head And Neck Face:
round face

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Laboratory Abnormalities:
type 1 collagen overmodification
absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

Growth Height:
short stature, disproportionate
dwarfism, short-limbed

Head And Neck Head:
open sutures
wide open anterior fontanelle
soft skull

Chest External Features:
short, barrel-shaped chest

Clinical features from OMIM:

610915

GenomeRNAi Phenotypes related to Osteogenesis Imperfecta, Type Viii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.28 P3H1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.28 P3H1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.28 P3H2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.28 P3H1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.28 P3H1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.28 P3H1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.28 P3H2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.28 P3H2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.28 P3H1

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Viii

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type Viii

Genetic Tests for Osteogenesis Imperfecta, Type Viii

Genetic tests related to Osteogenesis Imperfecta, Type Viii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 8 29 P3H1

Anatomical Context for Osteogenesis Imperfecta, Type Viii

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

40
Bone

Publications for Osteogenesis Imperfecta, Type Viii

Articles related to Osteogenesis Imperfecta, Type Viii:

(show all 26)
# Title Authors PMID Year
1
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. 56 6
22281939 2012
2
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. 56 6
19088120 2009
3
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. 6 56
17277775 2007
4
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
5
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
6
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
7
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 6
17078022 2007
8
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
9
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
10
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
11
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
12
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
13
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
14
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 6
8669434 1996
15
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
16
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. 56
8100856 1993
17
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
18
Osteogenesis imperfecta type III: an ancient mutation in Africa? 56
3425600 1987
19
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. 6
3722186 1986
20
Genetic heterogeneity in osteogenesis imperfecta. 56
458828 1979
21
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
22
Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. 61
30322678 2019
23
Use of flexible intramedullary nailing in combination with an external fixator for a postoperative defect and pseudarthrosis of femur in a girl with osteogenesis imperfecta type VIII: a case report. 61
30269195 2018
24
Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta. 61
30117226 2018
25
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. 61
27864101 2017
26
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. 61
23301918 2013

Variations for Osteogenesis Imperfecta, Type Viii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Viii:

6 (show top 50) (show all 148) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 P3H1 NM_022356.3(P3H1):c.570_571del (p.Gly191fs)deletion Pathogenic 522436 rs1553143741 1:43228041-43228042 1:42762370-42762371
2 P3H1 NM_022356.3(P3H1):c.646_650del (p.Tyr216fs)deletion Pathogenic 522681 rs1553143142 1:43225030-43225034 1:42759359-42759363
3 P3H1 NM_022356.3(P3H1):c.1222A>T (p.Lys408Ter)SNV Pathogenic 566925 rs1557569037 1:43220837-43220837 1:42755166-42755166
4 P3H1 NM_022356.4(P3H1):c.1856del (p.Asn619fs)deletion Pathogenic 653499 1:43213452-43213452 1:42747781-42747781
5 P3H1 NM_022356.3(P3H1):c.1060A>T (p.Arg354Ter)SNV Pathogenic 655208 1:43223474-43223474 1:42757803-42757803
6 P3H1 NM_022356.3(P3H1):c.1459C>T (p.Gln487Ter)SNV Pathogenic 664730 1:43218222-43218222 1:42752551-42752551
7 P3H1 NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter)SNV Pathogenic 860818 1:43220659-43220659 1:42754988-42754988
8 P3H1 NM_022356.3(P3H1):c.1080+1G>TSNV Pathogenic 1253 rs72659351 1:43223453-43223453 1:42757782-42757782
9 P3H1 NM_022356.3(P3H1):c.1473+1G>TSNV Pathogenic 1254 rs72659354 1:43218207-43218207 1:42752536-42752536
10 P3H1 NM_022356.3(P3H1):c.747del (p.Tyr250fs)deletion Pathogenic 1255 rs72659348 1:43224933-43224933 1:42759262-42759262
11 P3H1 NM_022356.3(P3H1):c.1656C>A (p.Tyr552Ter)SNV Pathogenic 1256 rs72659355 1:43215921-43215921 1:42750250-42750250
12 P3H1 NM_022356.3(P3H1):c.1365_1366delinsC (p.Glu455fs)indel Pathogenic 1257 rs137853952 1:43218315-43218316 1:42752644-42752645
13 P3H1 NM_022356.3(P3H1):c.1102C>T (p.Arg368Ter)SNV Pathogenic 1258 rs118203996 1:43221287-43221287 1:42755616-42755616
14 P3H1 NM_022356.3(P3H1):c.1346-1G>CSNV Pathogenic 284532 rs886042897 1:43218336-43218336 1:42752665-42752665
15 P3H1 NM_022356.3(P3H1):c.2055+18G>ASNV Likely pathogenic 1259 rs137853890 1:43212925-43212925 1:42747254-42747254
16 P3H1 NM_022356.3(P3H1):c.232C>T (p.Gln78Ter)SNV Likely pathogenic 635408 1:43232411-43232411 1:42766740-42766740
17 P3H1 NM_022356.3(P3H1):c.940+1G>TSNV Likely pathogenic 566929 rs762525651 1:43224522-43224522 1:42758851-42758851
18 P3H1 NM_022356.3(P3H1):c.1171-2A>TSNV Likely pathogenic 571428 rs1013320485 1:43220890-43220890 1:42755219-42755219
19 P3H1 NM_022356.3(P3H1):c.1620C>T (p.Asn540=)SNV Conflicting interpretations of pathogenicity 536816 rs140334418 1:43215957-43215957 1:42750286-42750286
20 P3H1 NM_022356.3(P3H1):c.81G>C (p.Glu27Asp)SNV Conflicting interpretations of pathogenicity 536820 rs201750444 1:43232562-43232562 1:42766891-42766891
21 P3H1 NM_022356.3(P3H1):c.1501C>T (p.Arg501Trp)SNV Conflicting interpretations of pathogenicity 536818 rs115108794 1:43218013-43218013 1:42752342-42752342
22 P3H1 NM_022356.3(P3H1):c.1930C>A (p.Gln644Lys)SNV Conflicting interpretations of pathogenicity 468979 rs3738497 1:43213068-43213068 1:42747397-42747397
23 P3H1 NM_022356.3(P3H1):c.611C>A (p.Pro204His)SNV Conflicting interpretations of pathogenicity 468985 rs77208721 1:43228001-43228001 1:42762330-42762330
24 P3H1 NM_022356.3(P3H1):c.327C>T (p.Phe109=)SNV Conflicting interpretations of pathogenicity 497260 rs370773974 1:43232316-43232316 1:42766645-42766645
25 P3H1 NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg)SNV Conflicting interpretations of pathogenicity 426382 rs139259804 1:43218010-43218010 1:42752339-42752339
26 P3H1 NM_022356.3(P3H1):c.1626G>A (p.Thr542=)SNV Conflicting interpretations of pathogenicity 468970 rs577059613 1:43215951-43215951 1:42750280-42750280
27 P3H1 NM_022356.3(P3H1):c.1428C>T (p.Gly476=)SNV Conflicting interpretations of pathogenicity 468968 rs141786883 1:43218253-43218253 1:42752582-42752582
28 P3H1 NM_022356.3(P3H1):c.978C>T (p.Thr326=)SNV Conflicting interpretations of pathogenicity 468990 rs74070022 1:43223556-43223556 1:42757885-42757885
29 P3H1 NM_022356.3(P3H1):c.1720+4G>ASNV Conflicting interpretations of pathogenicity 468972 rs371232413 1:43215853-43215853 1:42750182-42750182
30 P3H1 NM_022356.3(P3H1):c.693G>A (p.Ala231=)SNV Conflicting interpretations of pathogenicity 468988 rs149113630 1:43224987-43224987 1:42759316-42759316
31 P3H1 NM_022356.3(P3H1):c.2152C>G (p.Pro718Ala)SNV Conflicting interpretations of pathogenicity 194557 rs533729683 1:43212427-43212427 1:42746756-42746756
32 P3H1 NM_022356.3(P3H1):c.1721-4C>TSNV Conflicting interpretations of pathogenicity 282080 rs200901466 1:43213992-43213992 1:42748321-42748321
33 P3H1 NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly)SNV Conflicting interpretations of pathogenicity 283522 rs113593896 1:43220563-43220563 1:42754892-42754892
34 P3H1 NM_022356.3(P3H1):c.1473+5G>TSNV Conflicting interpretations of pathogenicity 387904 rs114044880 1:43218203-43218203 1:42752532-42752532
35 P3H1 NM_022356.3(P3H1):c.1233G>A (p.Arg411=)SNV Conflicting interpretations of pathogenicity 379643 rs61746653 1:43220652-43220652 1:42754981-42754981
36 P3H1 NM_022356.3(P3H1):c.1026C>T (p.Ala342=)SNV Conflicting interpretations of pathogenicity 379768 rs61100157 1:43223508-43223508 1:42757837-42757837
37 P3H1 NM_022356.3(P3H1):c.139G>T (p.Ala47Ser)SNV Conflicting interpretations of pathogenicity 379443 rs55716016 1:43232504-43232504 1:42766833-42766833
38 P3H1 NM_022356.3(P3H1):c.1812C>T (p.Pro604=)SNV Conflicting interpretations of pathogenicity 379771 rs34809608 1:43213897-43213897 1:42748226-42748226
39 P3H1 NM_022356.3(P3H1):c.1569+3A>GSNV Conflicting interpretations of pathogenicity 379770 rs76871760 1:43217942-43217942 1:42752271-42752271
40 P3H1 NM_022356.3(P3H1):c.1045G>A (p.Gly349Arg)SNV Conflicting interpretations of pathogenicity 379444 rs6700677 1:43223489-43223489 1:42757818-42757818
41 P3H1 NM_022356.3(P3H1):c.1647G>A (p.Met549Ile)SNV Conflicting interpretations of pathogenicity 379421 rs11581921 1:43215930-43215930 1:42750259-42750259
42 P3H1 NM_022356.3(P3H1):c.1284C>T (p.Ile428=)SNV Conflicting interpretations of pathogenicity 379769 rs61746642 1:43220601-43220601 1:42754930-42754930
43 P3H1 NM_022356.4(P3H1):c.-57G>TSNV Conflicting interpretations of pathogenicity 875635 1:43232699-43232699 1:42767028-42767028
44 P3H1 NM_022356.4(P3H1):c.*77C>TSNV Conflicting interpretations of pathogenicity 873600 1:43212291-43212291 1:42746620-42746620
45 P3H1 NM_022356.4(P3H1):c.2108T>C (p.Met703Thr)SNV Uncertain significance 874596 1:43212471-43212471 1:42746800-42746800
46 P3H1 NM_022356.4(P3H1):c.1944C>T (p.Ala648=)SNV Uncertain significance 875524 1:43213054-43213054 1:42747383-42747383
47 P3H1 NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys)SNV Uncertain significance 873653 1:43215938-43215938 1:42750267-42750267
48 P3H1 NM_022356.4(P3H1):c.1247G>A (p.Arg416His)SNV Uncertain significance 875585 1:43220638-43220638 1:42754967-42754967
49 P3H1 NM_022356.4(P3H1):c.826C>G (p.Leu276Val)SNV Uncertain significance 873725 1:43224637-43224637 1:42758966-42758966
50 P3H1 NM_022356.4(P3H1):c.807A>G (p.Thr269=)SNV Uncertain significance 873727 1:43224873-43224873 1:42759202-42759202

Expression for Osteogenesis Imperfecta, Type Viii

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

Pathways for Osteogenesis Imperfecta, Type Viii

Pathways related to Osteogenesis Imperfecta, Type Viii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 P4HA3 P4HA2 P4HA1 P3H2 P3H1 CRTAP
2
Show member pathways
11.75 P4HA3 P4HA2 P4HA1 P3H2 P3H1 CRTAP
3
Show member pathways
11.09 P4HA3 P4HA2 P4HA1

GO Terms for Osteogenesis Imperfecta, Type Viii

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.43 P4HA3 P4HA2 P4HA1 P3H2 P3H1 CRTAP
2 endoplasmic reticulum lumen GO:0005788 9.1 P4HA3 P4HA2 P4HA1 P3H2 P3H1 CRTAP

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.65 P4HA3 P4HA2 P4HA1 P3H2 P3H1
2 collagen fibril organization GO:0030199 9.4 P4HA1 CRTAP
3 chaperone-mediated protein folding GO:0061077 9.37 P3H1 CRTAP
4 collagen metabolic process GO:0032963 9.32 P3H2 P3H1
5 negative regulation of post-translational protein modification GO:1901874 9.16 P3H1 CRTAP
6 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.13 P4HA3 P4HA2 P4HA1
7 peptidyl-proline hydroxylation GO:0019511 8.92 P4HA3 P4HA2 P3H2 P3H1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 P4HA3 P4HA2 P4HA1 P3H2 P3H1
2 iron ion binding GO:0005506 9.65 P4HA3 P4HA2 P4HA1 P3H2 P3H1
3 dioxygenase activity GO:0051213 9.55 P4HA3 P4HA2 P4HA1 P3H2 P3H1
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.54 P4HA3 P4HA2 P4HA1
5 procollagen-proline 4-dioxygenase activity GO:0004656 9.5 P4HA3 P4HA2 P4HA1
6 collagen binding GO:0005518 9.46 P3H1 CRTAP
7 procollagen-proline 3-dioxygenase activity GO:0019797 9.43 P3H2 P3H1
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.35 P4HA3 P4HA2 P4HA1 P3H2 P3H1
9 L-ascorbic acid binding GO:0031418 9.02 P4HA3 P4HA2 P4HA1 P3H2 P3H1

Sources for Osteogenesis Imperfecta, Type Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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