MCID: OST015
MIFTS: 54

Osteochondrodysplasia

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Osteochondrodysplasia

MalaCards integrated aliases for Osteochondrodysplasia:

Name: Osteochondrodysplasia 12 28 14
Chondrodystrophy 12 72 49 51
Congenital Anomaly of Cartilage 12 69
Cartilage Development Disorder 12
Osteochondrodysplasia Syndrome 12
Mucopolysaccharidosis Iv 69
Osteochondrodysplasias 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2256
ICD10 32 Q78.9
ICD9CM 34 756.4
MeSH 41 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 smith-mccort dysplasia 1 and achondrogenesis. An important gene associated with Osteochondrodysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Neural Crest Differentiation and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Alendronate and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are craniofacial and cellular

Wikipedia : 72 Chondrodystrophy (literally, \"cartilage maldevelopment\") refers to a skeletal disorder caused by one... more...

Related Diseases for Osteochondrodysplasia

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

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 smith-mccort dysplasia 1 32.5 DYM RAB33B
2 achondrogenesis 31.9 COL2A1 SLC26A2
3 achondroplasia 31.9 FGFR3 PTH1R SOX9
4 brittle bone disorder 31.7 BGLAP COL2A1 FGFR3 PTH1R
5 blount's disease 31.6 PTH1R SLC26A2
6 boomerang dysplasia 31.5 FLNA FLNB SLC26A2
7 pyle disease 31.2 COL2A1 PTH1R PTHLH
8 skeletal dysplasias 30.6 COL2A1 FGFR3 FLNA FLNB PTH1R PTHLH
9 achondrogenesis, type ia 29.7 COL2A1 SLC26A2
10 osteogenesis imperfecta, type ii 29.6 ALPL FGFR3 SOX9
11 achondrogenesis, type ib 29.5 FLNB SLC26A2
12 spondyloepiphyseal dysplasia congenita 28.9 COL2A1 FGFR3 FLNA SLC26A2
13 metaphyseal chondrodysplasia, jansen type 28.6 COL2A1 FGFR3 PTH1R PTHLH
14 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.4
15 cantu syndrome 12.1
16 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 11.9
17 chondrodysplasia, blomstrand type 11.6
18 multiple epiphyseal dysplasia 11.5
19 faye-petersen-ward-carey syndrome 11.4
20 craniometaphyseal dysplasia, autosomal dominant 11.2
21 pseudoachondroplasia 11.2
22 diastrophic dysplasia 11.2
23 leri-weill dyschondrosteosis 11.1
24 thanatophoric dysplasia, type i 11.1
25 dyssegmental dysplasia, silverman-handmaker type 11.1
26 desbuquois dysplasia 1 11.1
27 pycnodysostosis 11.1
28 pyknoachondrogenesis 11.1
29 hypochondroplasia 11.0
30 kniest dysplasia 11.0
31 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.0
32 arthropathy, progressive pseudorheumatoid, of childhood 11.0
33 greenberg dysplasia 11.0
34 spondyloepimetaphyseal dysplasia, matrilin-3 related 11.0
35 fibrochondrogenesis 11.0
36 campomelic dysplasia 10.9
37 larsen syndrome 10.9
38 craniometaphyseal dysplasia, autosomal recessive 10.9
39 smith-mccort dysplasia 2 10.9
40 acromegaloid facial appearance syndrome 10.7
41 cleidocranial dysplasia 10.7
42 mesomelia-synostoses syndrome 10.7
43 brachyolmia 10.7
44 desbuquois dysplasia 10.7
45 otospondylomegaepiphyseal dysplasia 10.7
46 hypochondrogenesis 10.7
47 acromesomelic dysplasia 10.7
48 albright's hereditary osteodystrophy 10.7
49 cardiomyopathy, dilated, 1o 10.5 ABCC9 KCNJ8
50 atelosteogenesis, type i 10.3

Graphical network of the top 20 diseases related to Osteochondrodysplasia:



Diseases related to Osteochondrodysplasia

Symptoms & Phenotypes for Osteochondrodysplasia

MGI Mouse Phenotypes related to Osteochondrodysplasia:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.25 FLNB SHOX2 PTH1R SLC26A2 SOX9 PTHLH
2 cellular MP:0005384 10.23 FLNA PTHLH FLNB SLC26A2 ABCC9 COL2A1
3 cardiovascular system MP:0005385 10.22 FLNA PTHLH FLNB KCNJ8 SHOX2 PTH1R
4 growth/size/body region MP:0005378 10.21 PTHLH FLNB SHOX2 SLC26A2 PTH1R FLNA
5 behavior/neurological MP:0005386 10.19 FLNA PTHLH FLNB PTH1R COL2A1 DYM
6 homeostasis/metabolism MP:0005376 10.13 FLNA PTHLH FLNB KCNJ8 SHOX2 PTH1R
7 digestive/alimentary MP:0005381 10.06 PTHLH SHOX2 PTH1R FLNA COL2A1 ALPL
8 limbs/digits/tail MP:0005371 10.03 PTHLH FLNB SHOX2 PTH1R SLC26A2 COL2A1
9 mortality/aging MP:0010768 10.03 PTHLH FLNB SHOX2 KCNJ8 SLC26A2 PTH1R
10 respiratory system MP:0005388 9.65 PTHLH FLNB PTH1R FLNA COL2A1 ALPL
11 skeleton MP:0005390 9.47 PTHLH FLNB SHOX2 PTH1R SLC26A2 FLNA

Drugs & Therapeutics for Osteochondrodysplasia

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

(show top 50) (show all 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
2
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
3
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1 40391-99-9 4674
4
Methyclothiazide Approved Phase 4 135-07-9 4121
5
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 10883523 5280795 6221
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Antiviral Agents Phase 4,Phase 2,Phase 3
10 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
12 Interferon-gamma Phase 4,Phase 3,Phase 2
13 interferons Phase 4,Phase 3,Phase 2
14 Ergocalciferols Phase 4
15 Micronutrients Phase 4,Phase 3
16 Trace Elements Phase 4,Phase 3
17 Vitamins Phase 4,Phase 3,Phase 2
18 Anti-Bacterial Agents Phase 4
19 Gentamicins Phase 4
20 diuretics Phase 4
21 Natriuretic Agents Phase 4,Phase 3,Phase 2
22 Sodium Chloride Symporter Inhibitors 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
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
29
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
30
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
31
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
32
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
33
Etidronic acid Approved Phase 2, Phase 3 2809-21-4, 7414-83-7 3305
34
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
35
Denosumab Approved Phase 3,Phase 2 615258-40-7
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
37
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
38
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
39 Alkylating Agents Phase 2, Phase 3, Phase 1
40 Antifungal Agents Phase 2, Phase 3,Phase 1
41 Antilymphocyte Serum Phase 2, Phase 3
42 Antimetabolites Phase 2, Phase 3
43 Antimetabolites, Antineoplastic Phase 2, Phase 3
44 Antirheumatic Agents Phase 2, Phase 3, Phase 1
45 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
46 Cyclosporins Phase 2, Phase 3,Phase 1
47 Dermatologic Agents Phase 2, Phase 3,Phase 1
48 Folic Acid Antagonists Phase 2, Phase 3
49 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
50 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 141)

# Name Status NCT ID Phase Drugs
1 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Phase 4 Actimmune Registry
2 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
3 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
4 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
5 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
6 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
7 A Randomised Single Centre Study to Compare the Long-term Wear Characteristics of Marathon™ and Enduron™ Polyethylene Cup Liners in Primary Total Hip Replacement Completed NCT00208442 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 BMN 110
20 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Thymoglobulin, Fludarabine (Conditioning regimen);Cyclosporin, Methotrexate (GVHD prophylaxis)
21 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
22 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
23 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
24 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
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 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
26 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
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 Zoledronic Acid
28 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
29 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
30 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
31 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
32 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
33 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
34 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
35 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
36 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
37 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
38 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
39 A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA Completed NCT00884949 Phase 1, Phase 2 BMN 110
40 Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-trea Completed NCT01111019 Phase 2 Recombinant human growth hormone (Somatropin)
41 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
42 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
43 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
44 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
45 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
46 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
47 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
48 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
49 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
50 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2

Search NIH Clinical Center for Osteochondrodysplasia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Osteochondrodysplasia

Genetic tests related to Osteochondrodysplasia:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia 28 SLC26A2

Anatomical Context for Osteochondrodysplasia

MalaCards organs/tissues related to Osteochondrodysplasia:

38
Bone, Bone Marrow, Brain, T Cells, Testes, Kidney

Publications for Osteochondrodysplasia

Articles related to Osteochondrodysplasia:

(show top 50) (show all 63)
# 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
Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. ( 23300579 )
2012
5
Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review. ( 21728924 )
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
Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression. ( 18401562 )
2008
9
Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. ( 18339089 )
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
Osteochondrodysplasia in three Scottish Fold cats. ( 17679781 )
2007
12
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. ( 18000903 )
2007
13
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. ( 17009344 )
2006
14
Fryns syndrome with osteochondrodysplasia. ( 15793837 )
2005
15
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. ( 16086394 )
2005
16
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. ( 15562030 )
2005
17
Palliative irradiation of Scottish Fold osteochondrodysplasia. ( 15605854 )
2004
18
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. ( 15476249 )
2004
19
Retinitis pigmentosa with osteochondrodysplasia in siblings. ( 11702989 )
2001
20
The genetic basis of the osteochondrodysplasias. ( 11008738 )
2000
21
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. ( 10664159 )
2000
22
Autosomal dominant inheritance in CantA_ syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). ( 11050630 )
2000
23
A locus responsible for osteochondrodysplasia (ocd) is located on rat chromosome 11. ( 10818212 )
2000
24
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (CantA_ syndrome): a new case with unusual radiological findings. ( 10817653 )
2000
25
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: CantA_ syndrome. ( 10398267 )
1999
26
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. ( 10523019 )
1999
27
Osteochondrodysplasia in Scottish Fold cats. ( 10078353 )
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
Osteochondrodysplasia occurring in transgenic mice expressing interferon-gamma. ( 9381654 )
1997
32
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. ( 9024569 )
1997
33
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. ( 9056550 )
1997
34
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. ( 9415697 )
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
A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy. ( 7981898 )
1994
39
Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. ( 8092197 )
1994
40
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. ( 8486375 )
1993
41
Histochemical and immunohistochemical distribution of glycosaminoglycans, type II collagen, and fibronectin in developing fetal cartilage of congenital osteochondrodysplasia rat (ocd/ocd). ( 1462255 )
1992
42
Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation. ( 1501958 )
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
Gross abnormalities of kidney in congenital osteochondrodysplasia rat (ocd/ocd). ( 2607723 )
1989
49
Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. ( 2777707 )
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:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC9 KCNJ8

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

(show all 24)
# 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 SHOX2 SP7
3 bone development GO:0060348 9.65 BGLAP COL2A1 DYM
4 neural crest cell development GO:0014032 9.62 SOX9 TAPT1
5 regulation of bone mineralization GO:0030500 9.61 ANKH BGLAP
6 response to vitamin D GO:0033280 9.61 ALPL BGLAP
7 cartilage condensation GO:0001502 9.6 COL2A1 SOX9
8 tissue homeostasis GO:0001894 9.59 COL2A1 SOX9
9 negative regulation of chondrocyte differentiation GO:0032331 9.58 PTHLH SOX9
10 chondrocyte development GO:0002063 9.58 SHOX2 SOX9
11 bone mineralization GO:0030282 9.58 BGLAP FGFR3 PTH1R
12 positive regulation of cartilage development GO:0061036 9.57 SOX9 TAPT1
13 limb bud formation GO:0060174 9.56 COL2A1 SOX9
14 embryonic skeletal joint morphogenesis GO:0060272 9.55 COL2A1 SHOX2
15 chondrocyte differentiation GO:0002062 9.55 COL2A1 FGFR3 PTH1R SHOX2 SOX9
16 regulation of chondrocyte differentiation GO:0032330 9.54 PTHLH SHOX2
17 notochord development GO:0030903 9.52 COL2A1 SOX9
18 endochondral ossification GO:0001958 9.5 ALPL COL2A1 FGFR3
19 otic vesicle development GO:0071599 9.49 COL2A1 SOX9
20 heart valve development GO:0003170 9.46 SHOX2 SOX9
21 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.43 COL2A1 SHOX2
22 osteoblast development GO:0002076 9.43 BGLAP PTH1R PTHLH
23 ossification GO:0001503 9.43 BGLAP COL2A1 PTH1R SLC26A2 SOX9 TAPT1
24 skeletal system development GO:0001501 9.28 ALPL ANKH BGLAP COL2A1 FGFR3 PTH1R

Sources for Osteochondrodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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