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MCID: DYS018
MIFTS: 46

Dysostosis

Categories: Bone diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Dysostosis

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MalaCards integrated aliases for Dysostosis:

Name: Dysostosis 12 76 55 15
Dysostoses 44 73

Classifications:

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


External Ids:

Disease Ontology 12 DOID:1934
MeSH 44 D004413
NCIt 50 C34560
SNOMED-CT 68 109420003
UMLS 73 C0013393
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Summaries for Dysostosis

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Disease Ontology : 12 A bone development disease that results in defective ossification of located in bone.

MalaCards based summary : Dysostosis, also known as dysostoses, is related to spondylocostal dysostosis 5 and weyers acrofacial dysostosis. An important gene associated with Dysostosis is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Neural Crest Differentiation and Gene regulatory network modelling somitogenesis. The drugs Tranexamic Acid and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are growth/size/body region and embryo

Wikipedia : 76 A dysostosis is a disorder of the development of bone, in particular affecting... more...

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Related Diseases for Dysostosis

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Diseases related to Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 234)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 5 34.5 HES7 TBX6
2 weyers acrofacial dysostosis 34.5 EVC EVC2
3 acrofacial dysostosis 1, nager type 34.4 DHODH EFTUD2 SF3B4
4 spondylocostal dysostosis 1, autosomal recessive 33.9 DLL3 HES7 LFNG MESP2
5 diamond-blackfan anemia 15 with mandibulofacial dysostosis 33.5 RPS28 TSR2
6 spondylocostal dysostosis 3, autosomal recessive 33.4 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
7 spondylocostal dysostosis, autosomal recessive 33.1 DLL3 HES7 LFNG MESP2 RIPPLY2
8 treacher collins syndrome 1 33.0 DHODH EFTUD2 POLR1A SF3B4
9 acrofacial dysostosis 32.9 DHODH EVC EVC2 POLR1A SF3B4
10 choanal atresia, posterior 29.9 EFTUD2 FGFR2
11 scoliosis 29.1 DLL3 HES7 LFNG MESP2 RIPPLY2 RUNX2
12 craniosynostosis 28.7 ALX4 FGFR2 RUNX2
13 mandibulofacial dysostosis, guion-almeida type 12.4
14 postaxial acrofacial dysostosis 12.3
15 acrofacial dysostosis syndrome of rodriguez 12.3
16 mandibulofacial dysostosis with alopecia 12.3
17 acrofacial dysostosis, palagonia type 12.3
18 acrofrontofacionasal dysostosis 12.3
19 acrofacial dysostosis, cincinnati type 12.3
20 acromelic frontonasal dysostosis 12.2
21 hypomandibular faciocranial dysostosis 12.2
22 acrofacial dysostosis, catania type 12.2
23 spondylospinal thoracic dysostosis 12.1
24 spondylocostal dysostosis 6, autosomal recessive 12.1
25 acrofrontofacionasal dysostosis 1 12.1
26 craniofacial dysostosis with diaphyseal hyperplasia 12.1
27 spondylocostal dysostosis 2, autosomal recessive 12.1
28 acrofrontofacionasal dysostosis 2 12.1
29 spondylocostal dysostosis 4, autosomal recessive 12.1
30 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.0
31 split-foot deformity with mandibulofacial dysostosis 12.0
32 oculomaxillofacial dysostosis 12.0
33 spondylocostal dysostosis 1 11.9
34 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 11.9
35 peripheral dysostosis 11.9
36 maxillofacial dysostosis 11.9
37 spondylocostal dysostosis with anal atresia and urogenital anomalies 11.9
38 mandibulofacial dysostosis with macroblepharon and macrostomia 11.9
39 acrocraniofacial dysostosis 11.9
40 branchial arch syndrome, x-linked 11.8
41 acrofacial dysostosis, kennedy-teebi type 11.8
42 spondylocostal dysostosis 2 11.8
43 acral dysostosis dyserythropoiesis syndrome 11.8
44 crouzon syndrome 11.8
45 cleidocranial dysplasia 11.8
46 spondylocostal dysostosis 3 11.8
47 thoracopelvic dysostosis 11.8
48 metaphyseal dysostosis, mental retardation, and conductive deafness 11.8
49 spondylocostal dysostosis 4 11.8
50 acrodysostosis 11.7

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to Dysostosis
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Symptoms & Phenotypes for Dysostosis

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MGI Mouse Phenotypes related to Dysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
2 embryo MP:0005380 10.02 ALX4 DLL3 EDNRA FGFR2 HES7 LFNG
3 limbs/digits/tail MP:0005371 10 ALX4 DLL3 EVC EVC2 FGFR2 HES7
4 mortality/aging MP:0010768 10 TBX6 ALX4 DHODH DLL3 EDNRA EFTUD2
5 craniofacial MP:0005382 9.95 RUNX2 ALX4 DLL3 EDNRA EVC EVC2
6 muscle MP:0005369 9.5 ALX4 DLL3 EDNRA FGFR2 MESP2 RIPPLY2
7 skeleton MP:0005390 9.47 MESP2 RIPPLY2 RUNX2 TBX6 ALX4 CHST3
Sources

Drugs & Therapeutics for Dysostosis

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Drugs for Dysostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3,Not Applicable 1197-18-8 5526
2 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
3 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Skullcap Nutraceutical Phase 4,Phase 1
6
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
7
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
8
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
9
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
10 tannic acid Approved, Nutraceutical Phase 1, Phase 2
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
12 Hypolipidemic Agents Phase 2,Not Applicable
13 Anticholesteremic Agents Phase 2,Not Applicable
14 Lipid Regulating Agents Phase 2,Not Applicable
15 Antimetabolites Phase 2,Not Applicable
16 Central Nervous System Depressants Phase 2
17 GABA Agents Phase 2
18 Neurotransmitter Agents Phase 2
19 Histone Deacetylase Inhibitors Phase 2
20 Tranquilizing Agents Phase 2
21 Anticonvulsants Phase 2
22 Psychotropic Drugs Phase 2
23 Antimanic Agents Phase 2
24 Anesthetics Phase 2
25 Antioxidants Phase 2
26 Protective Agents Phase 2
27 Phytosterol Nutraceutical Phase 1, Phase 2,Not Applicable
28
Menthol Approved 2216-51-5 16666
29
Iron Approved Not Applicable 7439-89-6 23925
30
Adenosine Approved, Investigational 58-61-7 60961
31 Analgesics
32 Peripheral Nervous System Agents
33 Calcium, Dietary Not Applicable
34
Bilirubin Not Applicable 635-65-4 5280352
35 Epoetin alfa Not Applicable 113427-24-0
36 Ferrous fumarate Not Applicable
37 Micronutrients Not Applicable
38 Hematinics Not Applicable
39 Trace Elements Not Applicable
40 Liver Extracts
41 Anti-Arrhythmia Agents
42 Vasodilator Agents
43 Calamus Nutraceutical Not Applicable

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
3 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
4 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
5 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
6 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
7 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
8 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
9 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
10 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
11 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
12 Efficacy of Amicar for Children Having Craniofacial Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
13 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
14 Bone Reconstruction of the Skull Using a Metal Ceramic Implant After Previously Failed Reconstruction Unknown status NCT01899807 Not Applicable
15 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
16 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
17 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
18 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
19 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
20 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
21 Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care Completed NCT02287805
22 The Natural History of Alpha-Mannosidosis Completed NCT00498420
23 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
24 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
25 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
26 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Not Applicable Tranexamic Acid;normal saline
27 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650 Not Applicable
28 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
29 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
30 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936 Not Applicable
31 Child and Infant Learning Project Completed NCT00077831
32 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
33 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
34 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
35 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
36 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
37 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
38 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
39 Prospective Follow-up Study of Titanium-Coated PEEK Cages for Degenerative Disc Disease Recruiting NCT03565224
40 Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child Recruiting NCT03231085 Not Applicable Ferrous fumarate
41 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
42 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Recruiting NCT03107546 Not Applicable
43 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
44 Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital Compression Recruiting NCT02548260 Not Applicable
45 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702 Not Applicable
46 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
47 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
48 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
49 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
50 Syndactyly Versus Closed Reduction in 5th Metacarpal Neck Fracture Active, not recruiting NCT03434587 Not Applicable

Search NIH Clinical Center for Dysostosis

Cochrane evidence based reviews: dysostoses

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Genetic Tests for Dysostosis

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Anatomical Context for Dysostosis

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MalaCards organs/tissues related to Dysostosis:

41
Bone, Skin, Liver, Brain, Eye, Heart, Testes
Sources

Publications for Dysostosis

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Articles related to Dysostosis:

(show top 50) (show all 581)
# Title Authors Year
1
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. ( 29704261 )
2018
2
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. ( 29929043 )
2018
3
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis - Cincinnati type. ( 29750247 )
2018
4
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. ( 29381487 )
2018
5
Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient. ( 29765785 )
2018
6
Therapeutic Protocol for Orthosurgical Management of Class III Malocclusion in Patients With Cleidocranial Dysostosis. ( 29877984 )
2018
7
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. ( 27670155 )
2017
8
Mandibulofacial dysostosis Bauru type: Refining the phenotype. ( 28558149 )
2017
9
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. ( 28196820 )
2017
10
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. ( 28611549 )
2017
11
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. ( 28815954 )
2017
12
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
13
Maxillary sinuses and midface in patients with cleidocranial dysostosis. ( 28889021 )
2017
14
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2017
15
Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. ( 27671791 )
2016
16
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. ( 27861764 )
2016
17
Congenital hemangioma in spondylocostal dysostosis: a novel association. ( 28300884 )
2016
18
EP10.02: Nager acrofacial dysostosis: early first trimester ultrasound or exome sequencing? ( 27645160 )
2016
19
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. ( 27590395 )
2016
20
Mandibular dysostosis without microphthalmia caused by OTX2 deletion. ( 27378064 )
2016
21
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. ( 27642715 )
2016
22
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27935951 )
2016
23
Cleidocranial dysostosis : A rare case report. ( 27728738 )
2016
24
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27622494 )
2016
25
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
26
Dental Management of a Patient with Nager Acrofacial Dysostosis. ( 26527228 )
2015
27
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. ( 25735261 )
2015
28
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26090680 )
2015
29
Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl. ( 26701993 )
2015
30
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. ( 26706854 )
2015
31
Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia. ( 25772936 )
2015
32
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26222705 )
2015
33
Scheuermann's disease (dysostosis) of the spine. ( 25611402 )
2015
34
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
35
Cleidocranial dysostosis. ( 26311012 )
2015
36
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. ( 25659135 )
2015
37
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. ( 26507355 )
2015
38
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. ( 25913037 )
2015
39
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence. ( 25427842 )
2015
40
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. ( 26962344 )
2015
41
Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome). ( 25304117 )
2014
42
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. ( 25624929 )
2014
43
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. ( 24666313 )
2014
44
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. ( 25395774 )
2014
45
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. ( 25105228 )
2014
46
Orodental findings in postaxial acrofacial dysostosis. ( 24959059 )
2014
47
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations. ( 25387991 )
2014
48
Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature. ( 25250070 )
2014
49
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. ( 23239648 )
2013
50
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. ( 23599829 )
2013
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Variations for Dysostosis

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Expression for Dysostosis

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Search GEO for disease gene expression data for Dysostosis.
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Pathways for Dysostosis

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Pathways related to Dysostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neural Crest Differentiation 1
11.14 DLL3 FGFR2 TBX6
2
Gene regulatory network modelling somitogenesis 1
10.06 HES7 LFNG MESP2 RIPPLY2 TBX6
Sources

GO Terms for Dysostosis

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Cellular components related to Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane protein complex GO:0098797 8.62 EVC EVC2

Biological processes related to Dysostosis according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 ALX4 DLL3 FGFR2 HES7 LFNG MESP2
2 skeletal system morphogenesis GO:0048705 9.58 ALX4 FGFR2 RUNX2
3 Notch signaling pathway GO:0007219 9.56 DLL3 HES7 MESP2 RIPPLY2
4 post-anal tail morphogenesis GO:0036342 9.52 HES7 RIPPLY2
5 regulation of osteoblast differentiation GO:0045667 9.51 FGFR2 RUNX2
6 somite rostral/caudal axis specification GO:0032525 9.49 RIPPLY2 TBX6
7 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.48 FGFR2 RUNX2
8 regulation of somitogenesis GO:0014807 9.46 HES7 LFNG
9 endochondral bone growth GO:0003416 9.43 EVC FGFR2
10 compartment pattern specification GO:0007386 9.37 DLL3 LFNG
11 skeletal system development GO:0001501 9.35 ALX4 DLL3 EVC HES7 RUNX2
12 embryonic pattern specification GO:0009880 9.33 FGFR2 MESP2 RIPPLY2
13 somitogenesis GO:0001756 9.02 DLL3 HES7 LFNG MESP2 RIPPLY2
Sources

Sources for Dysostosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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