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MCID: BND014
MIFTS: 30

Bone Development Disease

Categories: Bone diseases
Genes Tissues Related diseases Pathways
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Aliases & Classifications for Bone Development Disease

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MalaCards integrated aliases for Bone Development Disease:

Name: Bone Development Disease 12 15 17

Classifications:

MalaCards categories:
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0080006
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Summaries for Bone Development Disease

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Disease Ontology : 12 A bone disease that results in abnormal growth and development located in bone or located in cartilage.

MalaCards based summary : Bone Development Disease is related to odontochondrodysplasia and fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly. An important gene associated with Bone Development Disease is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Collagen chain trimerization. Affiliated tissues include bone and bone or, and related phenotypes are growth/size/body region and cellular

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Related Diseases for Bone Development Disease

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Diseases related to Bone Development Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 odontochondrodysplasia 10.7
2 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.7
3 spondylocarpotarsal synostosis syndrome 10.7
4 split hand-foot malformation 10.7
5 clubfoot 10.7
6 dysostosis 10.7
7 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A1 COL1A2
8 hemifacial hyperplasia 10.5 FGFR2 FGFR3
9 high bone mass osteogenesis imperfecta 10.5 COL1A1 COL1A2
10 osteogenesis imperfecta, type vi 10.5 COL1A1 IFITM5
11 plagiocephaly 10.5 FGFR2 FGFR3
12 osteogenesis imperfecta, type i 10.4 COL1A1 COL1A2 FGFR3
13 larsen-like syndrome 10.4 COL1A1 COL1A2
14 osteoglophonic dysplasia 10.4 FGFR2 FGFR3
15 osteogenesis imperfecta, type vii 10.4 COL1A1 COL1A2 CRTAP
16 bone chondrosarcoma 10.4 COMP RUNX2
17 luteoma 10.4 FGFR2 FGFR3
18 skeletal dysplasias 10.4 COL2A1 COMP FGFR3
19 thanatophoric dysplasia, type i 10.4 COMP FGFR2 FGFR3
20 hypochondroplasia 10.4 FGFR2 FGFR3 SHOX
21 otosclerosis 10.4 COL1A1 COL1A2 SLC26A2
22 parietal foramina with cleidocranial dysplasia 10.4 MSX2 RUNX2
23 osteogenesis imperfecta, type v 10.4 COL1A1 COL1A2 IFITM5
24 retinal perforation 10.4 COL2A1 P3H1
25 classic ehlers-danlos syndrome 10.4 COL1A1 COL1A2
26 diastrophic dysplasia 10.4 COL2A1 COMP SLC26A2
27 osteogenesis imperfecta, type xi 10.3 CRTAP FKBP10
28 beare-stevenson cutis gyrata syndrome 10.3 FGFR2 FGFR3
29 multiple epiphyseal dysplasia 10.3 COL2A1 COMP SLC26A2
30 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.3 COL2A1 SMARCAL1 TRAPPC2
31 pfeiffer syndrome 10.3 COL1A1 FGFR2 FGFR3 RUNX2
32 crouzon syndrome 10.3 FGFR2 FGFR3 MSX2
33 chromosome 2q35 duplication syndrome 10.3 FGFR2 FGFR3 HOXD13
34 cervical incompetence 10.3 CRTAP P3H1
35 bone inflammation disease 10.3 COL2A1 COMP SOX9
36 achondrogenesis, type ia 10.3 COL2A1 SLC26A2
37 synostosis 10.3 FGFR2 FGFR3 MSX2
38 osteogenesis imperfecta, type viii 10.3 COL1A1 COL1A2 CRTAP P3H1
39 autosomal dominant disease 10.2 COL2A1 FGFR2 FGFR3 MSX2
40 epiphyseal dysplasia, multiple, 5 10.2 COMP SLC26A2
41 osteogenesis imperfecta, type iv 10.2 COL1A1 COL1A2 CRTAP FKBP10
42 scoliosis 10.2 COL1A1 COL1A2 COL2A1 FGFR3 RUNX2
43 tympanosclerosis 10.2 COL1A1 COL2A1
44 synovial chondromatosis 10.2 COL1A1 COL2A1 FGFR3 RUNX2 SOX9
45 hypospadias 10.2 FGFR2 HOXD13 SOX9
46 saethre-chotzen syndrome 10.2 COL1A2 FGFR2 FGFR3 MSX2 RUNX2
47 achondroplasia 10.2 COMP FGFR2 FGFR3 SHOX SOX9
48 brachydactyly 10.1 COL2A1 COMP FGFR3 HOXD13 RUNX2
49 osteogenesis imperfecta, type iii 10.1 COL1A1 COL1A2 CRTAP FKBP10 P3H1
50 bone disease 10.1 COL1A1 COL2A1 FGFR2 FGFR3 RUNX2 TRAPPC2

Graphical network of the top 20 diseases related to Bone Development Disease:



Diseases related to Bone Development Disease
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Symptoms & Phenotypes for Bone Development Disease

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MGI Mouse Phenotypes related to Bone Development Disease:

47 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR2
2 cellular MP:0005384 10.33 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
3 limbs/digits/tail MP:0005371 10.28 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
4 behavior/neurological MP:0005386 10.27 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
5 craniofacial MP:0005382 10.24 COL1A1 COL2A1 FGFR2 FGFR3 FKBP10 IFITM5
6 mortality/aging MP:0010768 10.22 COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 FKBP10
7 cardiovascular system MP:0005385 10.21 COL1A1 COL1A2 COL2A1 COMP FGFR2 FKBP10
8 immune system MP:0005387 10.18 COL1A1 COL2A1 COMP FGFR2 FGFR3 IFITM5
9 digestive/alimentary MP:0005381 10.13 COL1A1 COL2A1 FGFR2 FGFR3 HOXD13 MSX2
10 integument MP:0010771 10.11 COL1A1 COL1A2 FGFR2 FGFR3 HOXD13 MSX2
11 adipose tissue MP:0005375 10.05 COL1A1 COL1A2 COL2A1 FGFR2 P3H1 SOX9
12 muscle MP:0005369 10.02 COL1A1 COL1A2 COMP FGFR2 HOXD13 MSX2
13 hearing/vestibular/ear MP:0005377 9.97 COL1A1 COL2A1 FGFR2 FGFR3 MSX2 SOX9
14 no phenotypic analysis MP:0003012 9.87 COL1A1 FGFR2 FGFR3 HOXD13 RUNX2 SMARCAL1
15 normal MP:0002873 9.86 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
16 skeleton MP:0005390 9.86 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR2
17 renal/urinary system MP:0005367 9.7 COL1A1 COL2A1 FGFR2 FGFR3 HOXD13 SMARCAL1
18 vision/eye MP:0005391 9.23 COL1A1 COL2A1 FGFR2 FGFR3 HOXD13 MSX2
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Drugs & Therapeutics for Bone Development Disease

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Search Clinical Trials , NIH Clinical Center for Bone Development Disease

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Genetic Tests for Bone Development Disease

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Anatomical Context for Bone Development Disease

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MalaCards organs/tissues related to Bone Development Disease:

42
Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Bone Development Disease:

20
Bone Or
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Publications for Bone Development Disease

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Variations for Bone Development Disease

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Expression for Bone Development Disease

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Search GEO for disease gene expression data for Bone Development Disease.
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Pathways for Bone Development Disease

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Pathways related to Bone Development Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 38
Show member pathways
 12.68 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
2
Collagen chain trimerization 67
Show member pathways
 12.55 COL1A1 COL1A2 COL2A1 CRTAP P3H1
3
Degradation of the extracellular matrix 67
Show member pathways
 12.29 COL1A1 COL1A2 COL2A1 COMP CRTAP P3H1
4
ECM-receptor interaction 38
Show member pathways
 11.81 COL1A1 COL1A2 COL2A1 COMP
5
Cell adhesion_ECM remodeling 23
11.37 COL1A1 COL1A2 COL2A1
6
Endochondral Ossification 1
11.07 COL2A1 FGFR3 RUNX2 SOX9
7
Neural Crest Differentiation 1
11.03 COL2A1 FGFR2 FGFR3 MSX2 SOX9
8
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.02 COL1A1 COL1A2 RUNX2
9
G-protein signaling_Rap2B regulation pathway 23
10.76 COL1A1 COL1A2 COL2A1 FGFR2 FGFR3
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GO Terms for Bone Development Disease

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Cellular components related to Bone Development Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.86 COL1A1 COL1A2 CRTAP FGFR3 FKBP10 P3H1
2 collagen-containing extracellular matrix GO:0062023 9.67 COL1A1 COL1A2 COL2A1 COMP
3 collagen trimer GO:0005581 9.5 COL1A1 COL1A2 COL2A1
4 extracellular matrix GO:0031012 9.46 COL1A1 COL1A2 COL2A1 COMP
5 endoplasmic reticulum lumen GO:0005788 9.1 COL1A1 COL1A2 COL2A1 CRTAP FKBP10 P3H1
6 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2

Biological processes related to Bone Development Disease according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.88 COL1A1 COL1A2 COL2A1 COMP SOX9
2 osteoblast differentiation GO:0001649 9.85 COL1A1 MSX2 RUNX2
3 negative regulation of apoptotic process GO:0043066 9.85 COMP MSX2 SOX9
4 wound healing GO:0042060 9.85 COL1A1 FGFR2 MSX2
5 cartilage development GO:0051216 9.83 COL2A1 MSX2 SOX9
6 cellular response to retinoic acid GO:0071300 9.82 COL1A1 FGFR2 SOX9
7 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 COL1A1 FGFR2 SOX9
8 bone development GO:0060348 9.77 COL2A1 FGFR2 P3H1
9 collagen fibril organization GO:0030199 9.72 COL1A1 COL1A2 COL2A1
10 bone mineralization GO:0030282 9.71 FGFR2 FGFR3 IFITM5
11 skeletal system morphogenesis GO:0048705 9.71 COL1A1 COL2A1 FGFR2 RUNX2
12 cellular response to BMP stimulus GO:0071773 9.7 COL2A1 RUNX2 SOX9
13 odontogenesis GO:0042476 9.69 COL1A2 FGFR2 MSX2
14 cartilage condensation GO:0001502 9.68 COL2A1 SOX9
15 osteoblast development GO:0002076 9.68 MSX2 RUNX2
16 prostate gland development GO:0030850 9.67 HOXD13 SOX9
17 regulation of osteoblast differentiation GO:0045667 9.67 FGFR2 RUNX2
18 chondrocyte differentiation GO:0002062 9.67 COL2A1 FGFR3 RUNX2 SOX9
19 protein heterotrimerization GO:0070208 9.66 COL1A1 COL1A2
20 notochord development GO:0030903 9.66 COL2A1 SOX9
21 gland morphogenesis GO:0022612 9.65 FGFR2 HOXD13
22 skin morphogenesis GO:0043589 9.65 COL1A1 COL1A2
23 bone trabecula formation GO:0060346 9.64 COL1A1 MSX2
24 positive regulation of phospholipase activity GO:0010518 9.63 FGFR2 FGFR3
25 chondrocyte development GO:0002063 9.63 MSX2 RUNX2 SOX9
26 lacrimal gland development GO:0032808 9.62 FGFR2 SOX9
27 otic vesicle development GO:0071599 9.62 COL2A1 SOX9
28 otic vesicle formation GO:0030916 9.61 FGFR2 SOX9
29 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.61 FGFR2 HOXD13
30 limb bud formation GO:0060174 9.61 COL2A1 FGFR2 SOX9
31 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.6 FGFR2 RUNX2
32 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.58 COL1A1 COL2A1
33 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.58 FGFR2 HOXD13
34 anterior head development GO:0097065 9.57 COL2A1 SOX9
35 prostate gland morphogenesis GO:0060512 9.56 FGFR2 SOX9
36 bone morphogenesis GO:0060349 9.56 FGFR2 FGFR3 IFITM5 MSX2
37 endochondral bone growth GO:0003416 9.5 FGFR2 FGFR3 MSX2
38 negative regulation of post-translational protein modification GO:1901874 9.49 CRTAP P3H1
39 endochondral ossification GO:0001958 9.46 COL1A1 COL2A1 FGFR3 RUNX2
40 ossification GO:0001503 9.43 COL1A1 COL2A1 MSX2 RUNX2 SLC26A2 SOX9
41 skeletal system development GO:0001501 9.32 COL1A1 COL1A2 COL2A1 COMP FGFR3 HOXD13

Molecular functions related to Bone Development Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.5 COL1A1 COL1A2 COMP
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL1A1 COL1A2 COL2A1
3 fibroblast growth factor-activated receptor activity GO:0005007 9.26 FGFR2 FGFR3
4 extracellular matrix structural constituent GO:0005201 9.26 COL1A1 COL1A2 COL2A1 COMP
5 platelet-derived growth factor binding GO:0048407 8.8 COL1A1 COL1A2 COL2A1
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Sources for Bone Development Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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