Aliases & Classifications for Dysostosis

MalaCards integrated aliases for Dysostosis:

Name: Dysostosis 12 72 51 14
Dysostoses 41 69

Classifications:



External Ids:

Disease Ontology 12 DOID:1934
MeSH 41 D004413
NCIt 46 C34560
SNOMED-CT 64 109420003
UMLS 69 C0013393

Summaries for Dysostosis

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 acrofacial dysostosis 1, nager type 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 Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and skin, and related phenotypes are mortality/aging and growth/size/body region

Wikipedia : 72 A dysostosis is a disorder of the development of bone, in particular affecting... more...

Related Diseases for Dysostosis

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

(show top 50) (show all 237)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 34.2 DHODH EFTUD2 SF3B4
2 weyers acrofacial dysostosis 34.2 EVC EVC2
3 spondylocostal dysostosis 5 34.1 HES7 TBX6
4 spondylocostal dysostosis 3, autosomal recessive 33.7 DLL3 HES7 LFNG MESP2 TBX6
5 spondylocostal dysostosis 1, autosomal recessive 33.6 DLL3 HES7 LFNG MESP2
6 spondylocostal dysostosis, autosomal recessive 33.2 DLL3 HES7 LFNG MESP2
7 acrofacial dysostosis 33.1 DHODH EVC EVC2 POLR1A SF3B4
8 treacher collins syndrome 1 32.9 DHODH EFTUD2 POLR1A SF3B4
9 choanal atresia, posterior 29.9 EFTUD2 FGFR2
10 scoliosis 29.9 DLL3 MESP2 TBX6
11 craniosynostosis 28.7 ALX4 FGFR2 RUNX2
12 mandibulofacial dysostosis, guion-almeida type 12.4
13 postaxial acrofacial dysostosis 12.3
14 acrofacial dysostosis syndrome of rodriguez 12.3
15 acrofacial dysostosis, palagonia type 12.3
16 acrofrontofacionasal dysostosis 12.3
17 mandibulofacial dysostosis with alopecia 12.3
18 acrofacial dysostosis, cincinnati type 12.2
19 acromelic frontonasal dysostosis 12.2
20 acrofacial dysostosis, catania type 12.2
21 hypomandibular faciocranial dysostosis 12.2
22 spondylospinal thoracic dysostosis 12.1
23 acrofrontofacionasal dysostosis 1 12.1
24 spondylocostal dysostosis 6, autosomal recessive 12.1
25 craniofacial dysostosis with diaphyseal hyperplasia 12.1
26 acrofrontofacionasal dysostosis 2 12.1
27 spondylocostal dysostosis 2, autosomal recessive 12.1
28 spondylocostal dysostosis 4, autosomal recessive 12.0
29 split-foot deformity with mandibulofacial dysostosis 12.0
30 diamond-blackfan anemia 15 with mandibulofacial dysostosis 12.0
31 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.0
32 oculomaxillofacial dysostosis 11.9
33 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 11.9
34 peripheral dysostosis 11.9
35 spondylocostal dysostosis 1 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 acral dysostosis dyserythropoiesis syndrome 11.8
43 crouzon syndrome 11.8
44 spondylocostal dysostosis 2 11.8
45 thoracopelvic dysostosis 11.8
46 metaphyseal dysostosis, mental retardation, and conductive deafness 11.8
47 spondylocostal dysostosis 3 11.8
48 spondylocostal dysostosis 4 11.8
49 acrodysostosis 11.7
50 acrofacial dysostosis, patagonia type 11.7

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to Dysostosis

Symptoms & Phenotypes for Dysostosis

MGI Mouse Phenotypes related to Dysostosis:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.28 NEU1 PRKAR1A RUNX2 TBX6 ALX4 DHODH
2 growth/size/body region MP:0005378 10.27 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
3 embryo MP:0005380 10.13 ALX4 DLL3 EDNRA FGFR2 HES7 LFNG
4 limbs/digits/tail MP:0005371 10.13 ALX4 DLL3 EVC EVC2 FGFR2 HES7
5 craniofacial MP:0005382 10.1 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
6 nervous system MP:0003631 10.02 ALX4 CHST3 DLL3 EDNRA FGFR2 LFNG
7 muscle MP:0005369 9.97 NEU1 PRKAR1A RUNX2 ALX4 DLL3 EDNRA
8 reproductive system MP:0005389 9.86 DLL3 EVC FGFR2 LFNG PRKAR1A RUNX2
9 skeleton MP:0005390 9.83 HES7 LFNG MESP2 NEU1 PRKAR1A RUNX2
10 respiratory system MP:0005388 9.7 ALX4 EDNRA FGFR2 LFNG NEU1 PRKAR1A
11 vision/eye MP:0005391 9.23 ALX4 DLL3 EDNRA FGFR2 LFNG NEU1

Drugs & Therapeutics for Dysostosis

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 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
4 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
5 Skullcap Nutraceutical Phase 4,Phase 1
6
Simvastatin Approved Phase 2 79902-63-9 54454
7
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
8
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
9
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
10 tannic acid Approved, Nutraceutical Phase 1, Phase 2
11 Anticholesteremic Agents Phase 2
12 Antimetabolites Phase 2
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
14 Hypolipidemic Agents Phase 2
15 Lipid Regulating Agents Phase 2
16 Neurotransmitter Agents Phase 2
17 Anticonvulsants Phase 2
18 Antimanic Agents Phase 2
19 Central Nervous System Depressants Phase 2
20 GABA Agents Phase 2
21 Histone Deacetylase Inhibitors Phase 2
22 Psychotropic Drugs Phase 2
23 Tranquilizing Agents Phase 2
24 Anesthetics Phase 2
25 Antioxidants Phase 2
26 Protective Agents Phase 2
27 Phytosterol Nutraceutical Phase 1, Phase 2
28
Adenosine Approved, Investigational 58-61-7 60961
29
Menthol Approved 2216-51-5 16666
30
Iron Approved 7439-89-6 23925
31 Calcium, Dietary
32 Analgesics
33 Anti-Arrhythmia Agents
34 Peripheral Nervous System Agents
35 Vasodilator Agents
36
Bilirubin 635-65-4 5280352
37 Epoetin alfa 113427-24-0
38 Ferrous fumarate
39 Hematinics
40 Micronutrients
41 Trace Elements
42 Liver Extracts
43 Calamus Nutraceutical

Interventional clinical trials:

(show top 50) (show all 60)

# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Active, not recruiting 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 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
10 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
11 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
12 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
13 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
14 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
15 Bone Reconstruction of the Skull Using a Metal Ceramic Implant After Previously Failed Reconstruction Unknown status NCT01899807
16 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
17 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
18 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
19 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
20 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
21 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
22 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
23 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
24 The Natural History of Alpha-Mannosidosis Completed NCT00498420
25 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
26 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
27 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
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
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 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 Ferrous fumarate
40 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
41 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Recruiting NCT03107546
42 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
43 Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital Compression Recruiting NCT02548260
44 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
45 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
46 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
47 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
48 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
49 Growth Arrest in Focal Dermal Hypoplasia Active, not recruiting NCT02463656
50 Syndactyly Versus Closed Reduction in 5th Metacarpal Neck Fracture Active, not recruiting NCT03434587

Search NIH Clinical Center for Dysostosis

Cochrane evidence based reviews: dysostoses

Genetic Tests for Dysostosis

Anatomical Context for Dysostosis

The Foundational Model of Anatomy Ontology organs/tissues related to Dysostosis:

18
Bone

MalaCards organs/tissues related to Dysostosis:

38
Bone, Skin, Liver, Brain, Eye, Heart, Testes

Publications for Dysostosis

Articles related to Dysostosis:

(show top 50) (show all 569)
# Title Authors Year
1
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. ( 29381487 )
2018
2
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
3
Maxillary sinuses and midface in patients with cleidocranial dysostosis. ( 28889021 )
2017
4
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
5
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. ( 28611549 )
2017
6
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. ( 28815954 )
2017
7
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2017
8
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. ( 27670155 )
2017
9
Mandibulofacial dysostosis Bauru type: Refining the phenotype. ( 28558149 )
2017
10
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
11
Mandibular dysostosis without microphthalmia caused by OTX2 deletion. ( 27378064 )
2016
12
Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. ( 27671791 )
2016
13
Congenital hemangioma in spondylocostal dysostosis: a novel association. ( 28300884 )
2016
14
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. ( 27642715 )
2016
15
Cleidocranial dysostosis : A rare case report. ( 27728738 )
2016
16
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27622494 )
2016
17
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27935951 )
2016
18
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. ( 27590395 )
2016
19
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. ( 27861764 )
2016
20
EP10.02: Nager acrofacial dysostosis: early first trimester ultrasound or exome sequencing? ( 27645160 )
2016
21
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. ( 25913037 )
2015
22
Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia. ( 25772936 )
2015
23
Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl. ( 26701993 )
2015
24
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
25
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. ( 26962344 )
2015
26
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence. ( 25427842 )
2015
27
Dental Management of a Patient with Nager Acrofacial Dysostosis. ( 26527228 )
2015
28
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26090680 )
2015
29
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. ( 25735261 )
2015
30
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. ( 26507355 )
2015
31
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. ( 25659135 )
2015
32
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. ( 26706854 )
2015
33
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26222705 )
2015
34
Scheuermann's disease (dysostosis) of the spine. ( 25611402 )
2015
35
Cleidocranial dysostosis. ( 26311012 )
2015
36
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
37
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. ( 24666313 )
2014
38
Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature. ( 25250070 )
2014
39
Orodental findings in postaxial acrofacial dysostosis. ( 24959059 )
2014
40
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. ( 25105228 )
2014
41
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. ( 25395774 )
2014
42
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. ( 25624929 )
2014
43
Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome). ( 25304117 )
2014
44
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. ( 24288143 )
2013
45
Limbal dermoid in Nager syndrome acrofacial dysostosis: A rare case report. ( 23619484 )
2013
46
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. ( 23599829 )
2013
47
Limbal dermoid in Nager acrofacial dysostosis: A rare case report. ( 23619496 )
2013
48
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. ( 23653874 )
2013
49
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. ( 23238123 )
2013
50
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. ( 23335591 )
2013

Variations for Dysostosis

Expression for Dysostosis

Search GEO for disease gene expression data for Dysostosis.

Pathways for Dysostosis

Pathways related to Dysostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 DLL3 FGFR2 TBX6
2 9.97 HES7 LFNG MESP2 TBX6

GO Terms for Dysostosis

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 11)
# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.65 DLL3 HES7 MESP2
2 skeletal system morphogenesis GO:0048705 9.5 ALX4 FGFR2 RUNX2
3 embryonic pattern specification GO:0009880 9.49 FGFR2 MESP2
4 regulation of osteoblast differentiation GO:0045667 9.46 FGFR2 RUNX2
5 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.43 FGFR2 RUNX2
6 endochondral bone growth GO:0003416 9.4 EVC FGFR2
7 regulation of somitogenesis GO:0014807 9.37 HES7 LFNG
8 skeletal system development GO:0001501 9.35 ALX4 DLL3 EVC HES7 RUNX2
9 mesoderm formation GO:0001707 9.33 MESP2 PRKAR1A TBX6
10 compartment pattern specification GO:0007386 9.26 DLL3 LFNG
11 somitogenesis GO:0001756 8.92 DLL3 HES7 LFNG MESP2

Sources for Dysostosis

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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