MCID: OST015
MIFTS: 52

Osteochondrodysplasia malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Osteochondrodysplasia

Aliases & Descriptions for Osteochondrodysplasia:

Name: Osteochondrodysplasia 12 14
Chondrodystrophy 12 50 52
Congenital Anomaly of Cartilage 12 69
Osteochondrodysplasia Syndrome 12 29
Cartilage Development Disorder 12
Mucopolysaccharidosis Iv 69
Osteochondrodysplasias 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2256
ICD10 33 Q78.9
ICD9CM 35 756.4
MeSH 42 D010009

Summaries for Osteochondrodysplasia

Disease Ontology : 12 A bone development disease that results_in defective development of cartilage or bone.

MalaCards based summary : Osteochondrodysplasia, also known as chondrodystrophy, is related to thanatophoric dysplasia, type i and metatropic dysplasia. An important gene associated with Osteochondrodysplasia is TAPT1 (Transmembrane Anterior Posterior Transformation 1), and among its related pathways/superpathways are Neural Crest Differentiation and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Methyclothiazide and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are cellular and craniofacial

Wikipedia : 71 Osteochondrodysplasia or skeletal dysplasia is a general term for a disorder of the development... more...

Related Diseases for Osteochondrodysplasia

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

(show top 50) (show all 291)
id Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type i 31.7 FGFR3 PTH1R SOX9
2 metatropic dysplasia 29.2 COL2A1 GALNS
3 complex lethal osteochondrodysplasia 12.3
4 hypertrichotic osteochondrodysplasia 12.2
5 hypertrichotic osteochondrodysplasia cantu type 12.0
6 sulfate transporter-related osteochondrodysplasia 11.7
7 skeletal dysplasias 11.6
8 multiple epiphyseal dysplasia 11.4
9 skeletal dysplasia 11.3
10 chondrodysplasia, blomstrand type 11.2
11 osteogenesis imperfecta 11.2
12 smith-mccort dysplasia 11.2
13 faye-petersen-ward-carey syndrome 11.1
14 craniometaphyseal dysplasia 11.1
15 diastrophic dysplasia 11.1
16 pseudoachondroplasia 11.1
17 desbuquois dysplasia 11.1
18 kniest dysplasia 11.1
19 leri-weill dyschondrosteosis 11.0
20 achondroplasia 11.0
21 pycnodysostosis 10.9
22 pyle disease 10.9
23 achondrogenesis 10.9
24 greenberg skeletal dysplasia 10.9
25 hypochondroplasia 10.9
26 spondyloepimetaphyseal dysplasia 10.9
27 otospondylomegaepiphyseal dysplasia 10.9
28 weissenbacher-zweymuller syndrome 10.9
29 fibrochondrogenesis 10.9
30 larsen syndrome 10.8
31 boomerang dysplasia 10.8
32 campomelic dysplasia 10.8
33 craniometaphyseal dysplasia, autosomal recessive 10.8
34 smith-mccort dysplasia 2 10.8
35 albright's hereditary osteodystrophy 10.6
36 brachyolmia 10.6
37 blount's disease 10.6
38 cleidocranial dysplasia 10.6
39 hypochondrogenesis 10.6
40 acromesomelic dysplasia 10.6
41 noonan syndrome 3 10.3 ABCC9 KCNJ8
42 epidermolysis bullosa simplex, koebner type 10.3 ABCC9 KCNJ8
43 sp7-related osteogenesis imperfecta 10.2 COL2A1 FGFR3 SLC26A2
44 coronary heart disease 4 10.2 COL2A1 SLC26A2
45 hypogonadotropic hypogonadism 18 with or without anosmia 10.2 FLNA FLNB SLC26A2
46 hypertrichosis 10.1
47 primary release disorder of platelets 10.1 BGLAP PTHLH
48 arrhythmogenic right ventricular dysplasia 11 10.1 DYM RAB33B
49 toxicodendron dermatitis 10.1 BGLAP PTHLH
50 vitelliform macular dystrophy 10.1 FGFR3 FLNA FLNB SLC26A2

Graphical network of the top 20 diseases related to Osteochondrodysplasia:



Diseases related to Osteochondrodysplasia

Symptoms & Phenotypes for Osteochondrodysplasia

MGI Mouse Phenotypes related to Osteochondrodysplasia:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 ALPL ANKH COL1A1 DYM FGFR3 FLNA
2 craniofacial MP:0005382 10.27 SOX9 TAPT1 ALPL ANKH COL1A1 COL2A1
3 behavior/neurological MP:0005386 10.25 ALPL ANKH COL1A1 COL2A1 DYM FGFR3
4 growth/size/body region MP:0005378 10.25 ABCC9 ALPL ANKH COL1A1 COL2A1 DYM
5 homeostasis/metabolism MP:0005376 10.21 PTH1R PTHLH SOX9 SP7 FLNB GALNS
6 cardiovascular system MP:0005385 10.19 ABCC9 ALPL ANKH COL1A1 COL2A1 FLNA
7 mortality/aging MP:0010768 10.13 ABCC9 ALPL ANKH COL1A1 COL2A1 FGFR3
8 limbs/digits/tail MP:0005371 10.1 ALPL ANKH COL1A1 COL2A1 DYM FGFR3
9 digestive/alimentary MP:0005381 10.09 ALPL COL1A1 COL2A1 FGFR3 FLNA PTH1R
10 renal/urinary system MP:0005367 9.7 COL1A1 COL2A1 DYM FGFR3 GALNS PTHLH
11 respiratory system MP:0005388 9.7 ALPL ANKH COL1A1 COL2A1 FGFR3 FLNA
12 skeleton MP:0005390 9.5 ALPL ANKH COL1A1 COL2A1 DYM FGFR3

Drugs & Therapeutics for Osteochondrodysplasia

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

(show top 50) (show all 115)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyclothiazide Approved Phase 4 135-07-9 4121
2
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
3
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
4
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1 40391-99-9 4674
5
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7 diuretics Phase 4
8 Natriuretic Agents Phase 4,Phase 2
9 Sodium Chloride Symporter Inhibitors Phase 4
10 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Antiviral Agents Phase 4,Phase 2,Phase 3
12 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
14 Interferon-gamma Phase 4,Phase 3,Phase 2
15 interferons Phase 4,Phase 3,Phase 2
16 Ergocalciferols Phase 4
17 Micronutrients Phase 4,Phase 3
18 Trace Elements Phase 4,Phase 3
19 vitamin d Phase 4,Phase 2
20 Vitamins Phase 4,Phase 3,Phase 2
21 Anti-Bacterial Agents Phase 4
22 Gentamicins Phase 4
23 Vaccines Phase 4
24 Calciferol Nutraceutical Phase 4
25 Vitamin D2 Nutraceutical Phase 4
26
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1 55-98-1 2478
27
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1 50-18-0, 6055-19-2 2907
28
Cyclosporine Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
29
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
30
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
31
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
32
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
33
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
34
Etidronic acid Approved Phase 2, Phase 3 7414-83-7, 2809-21-4 3305
35
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
36
Denosumab Approved Phase 3,Phase 2 615258-40-7
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
38
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
39
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
40 Alkylating Agents Phase 2, Phase 3, Phase 1
41 Antifungal Agents Phase 2, Phase 3,Phase 1
42 Antilymphocyte Serum Phase 2, Phase 3
43 Antimetabolites Phase 2, Phase 3
44 Antimetabolites, Antineoplastic Phase 2, Phase 3
45 Antineoplastic Agents, Alkylating Phase 2, Phase 3, Phase 1
46 Antirheumatic Agents Phase 2, Phase 3, Phase 1
47 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
48 Dermatologic Agents Phase 2, Phase 3,Phase 1
49 Folic Acid Antagonists Phase 2, Phase 3
50 Immunosuppressive Agents Phase 2, Phase 3, Phase 1

Interventional clinical trials:

(show top 50) (show all 129)
id Name Status NCT ID Phase
1 A Randomised Single Centre Study to Compare the Long-Term Wear Characteristics of Marathon™ and Enduron™ Polyethylene Cup Liners in Primary Total Hip Replacement Unknown status NCT00208442 Phase 4
2 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Phase 4
3 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4
4 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
5 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4
6 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4
7 A Study to Assess the Long-term Performance of SmartSet® HV and SmartSet® GHV Bone Cements in Primary Total Hip Replacement Completed NCT00872066 Phase 4
8 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
9 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
10 A Randomised Study to Compare Metal Ion Release and Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-Metal or a Metal-on-Metal Bearing Terminated NCT00873444 Phase 4
11 A Single Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00872794 Phase 4
12 A Two Centre Study to Assess the Stability and Long-term Performance of the C-Stem™ AMT in a Total Primary Hip Replacement Terminated NCT00872573 Phase 4
13 Multi-Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Resurfacing and Primary Total Hip Replacement Terminated NCT00872547 Phase 4
14 A Single Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-ceramic Bearing in Primary Total Hip Replacement Terminated NCT00872222 Phase 4
15 A Multi-centre Study to Assess the Long-term Performance of the Summit™ Hip in Primary Total Hip Replacement Terminated NCT00208390 Phase 4
16 A Multi-centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00208377 Phase 4
17 A Two Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Metal-on-Metal Bearing in Primary Total Hip Replacement Terminated NCT00208364 Phase 4
18 A Multi-centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Polyethylene-on-metal Bearing in Primary Total Hip Replacement Withdrawn NCT00208429 Phase 4
19 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3
20 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3
21 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3
22 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3
23 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
24 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3
25 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3
26 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3
27 An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta Completed NCT00982124 Phase 3
28 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3
29 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3
30 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3
31 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3
32 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3
33 A Randomised Multi-centre Study to Compare the Long-term Performance of the Future Hip to 3 Other Implants in Primary Total Hip Replacement Terminated NCT00208468 Phase 3
34 A Randomised Single Centre Study to Compare the Long-term Performance of 4 Designs of the DePuy Ultima LX Stem in Primary Total Hip Replacement Terminated NCT00208351 Phase 3
35 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
36 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2
37 A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA Completed NCT00884949 Phase 1, Phase 2
38 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2
39 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2
40 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2
41 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2
42 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2
43 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2
44 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2
45 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2
46 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2
47 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
48 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Recruiting NCT02743377 Phase 1, Phase 2
49 ACTIMMUNE in Intermediate Osteopetrosis Recruiting NCT02666768 Phase 2
50 Use of ACTIMMUNE in Patients With ADO2 Recruiting NCT02584608 Phase 2

Search NIH Clinical Center for Osteochondrodysplasia

Genetic Tests for Osteochondrodysplasia

Genetic tests related to Osteochondrodysplasia:

id Genetic test Affiliating Genes
1 Osteochondrodysplasia 29

Anatomical Context for Osteochondrodysplasia

MalaCards organs/tissues related to Osteochondrodysplasia:

39
Bone, Kidney

Publications for Osteochondrodysplasia

Articles related to Osteochondrodysplasia:

(show top 50) (show all 63)
id Title Authors Year
1
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. ( 27063440 )
2016
2
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. ( 26365339 )
2015
3
Efficacy and Complications of Palliative Irradiation in Three Scottish Fold Cats with Osteochondrodysplasia. ( 26365740 )
2015
4
Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review. ( 21728924 )
2012
5
Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. ( 23300579 )
2012
6
Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21. ( 22517500 )
2012
7
Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat. ( 21851869 )
2011
8
Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. ( 18339089 )
2008
9
Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression. ( 18401562 )
2008
10
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. ( 17164305 )
2007
11
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. ( 18000903 )
2007
12
Osteochondrodysplasia in three Scottish Fold cats. ( 17679781 )
2007
13
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. ( 17009344 )
2006
14
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. ( 16086394 )
2005
15
Fryns syndrome with osteochondrodysplasia. ( 15793837 )
2005
16
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. ( 15562030 )
2005
17
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. ( 15476249 )
2004
18
Palliative irradiation of Scottish Fold osteochondrodysplasia. ( 15605854 )
2004
19
Retinitis pigmentosa with osteochondrodysplasia in siblings. ( 11702989 )
2001
20
A locus responsible for osteochondrodysplasia (ocd) is located on rat chromosome 11. ( 10818212 )
2000
21
Autosomal dominant inheritance in CantA_ syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). ( 11050630 )
2000
22
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (CantA_ syndrome): a new case with unusual radiological findings. ( 10817653 )
2000
23
The genetic basis of the osteochondrodysplasias. ( 11008738 )
2000
24
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. ( 10664159 )
2000
25
Osteochondrodysplasia in Scottish Fold cats. ( 10078353 )
1999
26
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: CantA_ syndrome. ( 10398267 )
1999
27
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. ( 10523019 )
1999
28
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. ( 9426272 )
1998
29
Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs. ( 9856576 )
1998
30
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. ( 9571276 )
1998
31
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. ( 9024569 )
1997
32
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. ( 9415697 )
1997
33
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. ( 9056550 )
1997
34
Osteochondrodysplasia occurring in transgenic mice expressing interferon-gamma. ( 9381654 )
1997
35
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. ( 8957508 )
1996
36
Blomstrand lethal osteochondrodysplasia. ( 8723092 )
1996
37
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. ( 7859284 )
1995
38
Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. ( 8092197 )
1994
39
A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy. ( 7981898 )
1994
40
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. ( 8486375 )
1993
41
Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation. ( 1501958 )
1992
42
Histochemical and immunohistochemical distribution of glycosaminoglycans, type II collagen, and fibronectin in developing fetal cartilage of congenital osteochondrodysplasia rat (ocd/ocd). ( 1462255 )
1992
43
Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension. ( 1897572 )
1991
44
Chromatographic analysis of glycosaminoglycans in epiphyseal cartilage of congenital osteochondrodysplasia (ocd/ocd) rat. ( 1790222 )
1991
45
Osteochondrodysplasia in Fryns syndrome. ( 1903587 )
1991
46
A histological and histochemical study on glycosaminoglycans in epiphysial cartilage of osteochondrodysplasia rat (OCD/OCD). ( 1711949 )
1991
47
Electron microscopic observations and electrophoresis of the glycosaminoglycans in the epiphyseal cartilage of the congenital osteochondrodysplasia rat (ocd/ocd). ( 2084516 )
1990
48
Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. ( 2777707 )
1989
49
Gross abnormalities of kidney in congenital osteochondrodysplasia rat (ocd/ocd). ( 2607723 )
1989
50
A technique for necropsy evaluation of stenosis of the foramen magnum and rostral spinal canal in osteochondrodysplasia. ( 3192205 )
1988

Variations for Osteochondrodysplasia

Expression for Osteochondrodysplasia

Search GEO for disease gene expression data for Osteochondrodysplasia.

Pathways for Osteochondrodysplasia

GO Terms for Osteochondrodysplasia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.26 COL1A1 COL2A1 FLNA FLNB
2 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC9 KCNJ8

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.69 COL2A1 SOX9 TAPT1
2 osteoblast differentiation GO:0001649 9.67 ALPL BGLAP COL1A1 SP7
3 bone development GO:0060348 9.65 BGLAP COL2A1 DYM
4 skeletal system morphogenesis GO:0048705 9.61 COL1A1 COL2A1 RAB33B
5 neural crest cell development GO:0014032 9.6 SOX9 TAPT1
6 cartilage condensation GO:0001502 9.59 COL2A1 SOX9
7 response to vitamin D GO:0033280 9.58 ALPL BGLAP
8 regulation of bone mineralization GO:0030500 9.58 ANKH BGLAP
9 bone mineralization GO:0030282 9.58 BGLAP FGFR3 PTH1R
10 tissue homeostasis GO:0001894 9.57 COL2A1 SOX9
11 negative regulation of chondrocyte differentiation GO:0032331 9.56 PTHLH SOX9
12 chondrocyte differentiation GO:0002062 9.56 COL2A1 FGFR3 PTH1R SOX9
13 positive regulation of cartilage development GO:0061036 9.55 SOX9 TAPT1
14 notochord development GO:0030903 9.54 COL2A1 SOX9
15 limb bud formation GO:0060174 9.52 COL2A1 SOX9
16 osteoblast development GO:0002076 9.5 BGLAP PTH1R PTHLH
17 ossification GO:0001503 9.5 BGLAP COL1A1 COL2A1 PTH1R SLC26A2 SOX9
18 otic vesicle development GO:0071599 9.49 COL2A1 SOX9
19 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.46 COL1A1 COL2A1
20 endochondral ossification GO:0001958 9.46 ALPL COL1A1 COL2A1 FGFR3
21 skeletal system development GO:0001501 9.28 ALPL ANKH BGLAP COL1A1 COL2A1 FGFR3

Molecular functions related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL2A1

Sources for Osteochondrodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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