Aliases & Classifications for Synostosis

MalaCards integrated aliases for Synostosis:

Name: Synostosis 12 54 43 15

Classifications:



External Ids:

Disease Ontology 12 DOID:11971
MeSH 43 D013580
UMLS 71 C0039093

Summaries for Synostosis

Disease Ontology : 12 A dysostosis that results in abnormal fusing of adjacent bones.

MalaCards based summary : Synostosis is related to radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome and humeroradial synostosis. An important gene associated with Synostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are PAK Pathway and Pathways in cancer. The drugs Calcium and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related phenotypes are growth/size/body region and mortality/aging

Wikipedia : 74 Synostosis (plural: synostoses) is fusion of two bones. It can be normal in puberty, fusion of the... more...

Related Diseases for Synostosis

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

(show top 50) (show all 390)
# Related Disease Score Top Affiliating Genes
1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 34.7 MECOM HOXA11
2 humeroradial synostosis 34.6 POR FGFR2
3 radioulnar synostosis 34.2 TWIST1 SMAD6 RECQL4 POR MECOM HOXA11
4 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 33.9 POR FGFR2
5 synostoses, tarsal, carpal, and digital 33.7 NOG GDF5
6 antley-bixler syndrome 33.7 POR FGFR3 FGFR2 FGFR1
7 muenke syndrome 33.5 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
8 carpenter syndrome 1 33.0 RAB23 GLI3 FGFR3 FGFR2
9 isolated plagiocephaly 32.9 TWIST1 TCF12 FGFR3
10 isolated brachycephaly 32.9 TWIST1 TCF12 FGFR3
11 saethre-chotzen syndrome 32.5 TWIST1 TCF12 RECQL4 MSX2 FGFR3 FGFR2
12 cytochrome p450 oxidoreductase deficiency 32.5 POR FGFR2
13 apert syndrome 32.2 TWIST1 TCF12 RAB23 MSX2 GLI3 FGFR3
14 pfeiffer syndrome 32.2 TWIST1 NOG MSX2 GLI3 FGFR3 FGFR2
15 chromosome 2q35 duplication syndrome 31.9 RAB23 NOG MSX2 GLI3 GDF5 FGFR3
16 plagiocephaly 31.9 TWIST1 FGFR3 FGFR2 FGFR1
17 craniosynostosis 31.7 TWIST1 TCF12 SMAD6 RECQL4 POR NOG
18 fgfr-related craniosynostosis syndromes 31.4 FGFR3 FGFR2 FGFR1
19 hypertelorism 31.3 TWIST1 FGFR2 EFNB1
20 hydrocephalus 31.2 TWIST1 FGFR3 FGFR2 FGFR1
21 ankylosis 31.1 NOG GDF5 FGFR2 FGFR1
22 syndromic craniosynostosis 30.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
23 crouzon syndrome 30.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
24 exophthalmos 30.9 FGFR3 FGFR2 FGFR1
25 cleft palate, isolated 30.7 TWIST1 NOG MSX2 GLI3 FLNB FGFR3
26 achondroplasia 30.6 MSX2 FGFR3 FGFR2 FGFR1
27 brachydactyly 30.5 RAB23 NOG MSX2 GDF5 FGFR3
28 odontochondrodysplasia 30.4 GDF5 FLNB FGFR3 FGFR2
29 dysostosis 30.3 TWIST1 NOG MSX2 GLI3 GDF5 FGFR3
30 brachydactyly, type b2 30.3 NOG GDF5
31 parietal foramina 30.3 TWIST1 RECQL4 NELL1 MSX2 FGFR3
32 bone disease 30.1 NOG GDF5 FLNB FGFR3 FGFR2 FGFR1
33 spondylocarpotarsal synostosis syndrome 12.7
34 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.6
35 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 12.5
36 radioulnar synostosis-microcephaly-scoliosis syndrome 12.5
37 lambdoid synostosis 12.4
38 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.3
39 humeroradioulnar synostosis 12.2
40 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.2
41 coronal synostosis, syndactyly and jejunal atresia 12.2
42 tibio-fibular synostosis 12.2
43 humero-ulnar synostosis 12.2
44 humeroradial synostosis with craniofacial anomalies 12.2
45 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 12.2
46 radio-ulnar synostosis type 1 12.1
47 radio-ulnar synostosis type 2 12.1
48 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.1
49 cleft palate colobomata radial synostosis deafness 12.0
50 congenital heart disease radio ulnar synostosis mental retardation 12.0

Graphical network of the top 20 diseases related to Synostosis:



Diseases related to Synostosis

Symptoms & Phenotypes for Synostosis

MGI Mouse Phenotypes related to Synostosis:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
2 mortality/aging MP:0010768 10.39 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
3 cellular MP:0005384 10.38 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
4 craniofacial MP:0005382 10.37 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GLI3
5 limbs/digits/tail MP:0005371 10.36 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
6 behavior/neurological MP:0005386 10.32 FGFR1 FGFR2 FGFR3 FLNB MECOM MSX2
7 embryo MP:0005380 10.31 EFNB1 FGFR1 FGFR2 GDF5 GLI3 MECOM
8 cardiovascular system MP:0005385 10.27 FGFR1 FGFR2 FLNB GLI3 MECOM MSX2
9 endocrine/exocrine gland MP:0005379 10.22 EFNB1 FGFR1 FGFR2 GLI3 HOXA11 MSX2
10 nervous system MP:0003631 10.21 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
11 digestive/alimentary MP:0005381 10.2 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2
12 integument MP:0010771 10.18 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MECOM
13 hearing/vestibular/ear MP:0005377 10.1 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MECOM
14 muscle MP:0005369 10.01 FGFR1 FGFR2 MECOM MSX2 NOG POR
15 reproductive system MP:0005389 9.96 EFNB1 FGFR1 FGFR2 FGFR3 GDF5 GLI3
16 renal/urinary system MP:0005367 9.87 FGFR1 FGFR2 FGFR3 GLI3 HOXA11 NOG
17 skeleton MP:0005390 9.83 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
18 respiratory system MP:0005388 9.81 EFNB1 FGFR2 FGFR3 FLNB GLI3 MECOM
19 vision/eye MP:0005391 9.32 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2

Drugs & Therapeutics for Synostosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical 7440-70-2 271
2 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
2 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643
3 The Affect of Radiated Versus Non-Irradiated Blood on Extracellular Potassium Levels in Infants Undergoing Craniosynostosis Repair Completed NCT02483702
4 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
5 Distal Radius Fracture: Comparison Between Three and Six Weeks of Percutaneous Fixation Recruiting NCT03311633
6 Craniosynostosis Network Recruiting NCT03025763
7 Transtibial Amputation Outcomes Study (TAOS): Comparing Transtibial Amputation With (Ertl) and Without a Tibia-fibula Synostosis Procedure Active, not recruiting NCT01821976
8 Clinical Feasibility Study of Preoperative Surgical Planning for Craniosynostosis Procedures Not yet recruiting NCT03812159
9 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847

Search NIH Clinical Center for Synostosis

Cochrane evidence based reviews: synostosis

Genetic Tests for Synostosis

Anatomical Context for Synostosis

MalaCards organs/tissues related to Synostosis:

40
Bone, Brain, Heart, Bone Marrow, Eye, Testes, Spinal Cord

Publications for Synostosis

Articles related to Synostosis:

(show top 50) (show all 2766)
# Title Authors PMID Year
1
Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model. 54 61
19627528 2009
2
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 54 61
19483581 2009
3
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 54 61
18440889 2008
4
Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. 54 61
18449926 2008
5
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. 54 61
18317141 2008
6
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 54 61
17668388 2007
7
Syndromic craniosynostosis: from history to hydrogen bonds. 54 61
17552943 2007
8
Strabismus in unicoronal synostosis: ipsilateral or contralateral? 54 61
17538304 2007
9
Intracranial volume measurement of sagittal craniosynostosis. 54 61
17289391 2007
10
HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocytic differentiation in vitro. 54 61
16765069 2006
11
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. 54 61
16540516 2006
12
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. 54 61
16526918 2006
13
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 54 61
16251895 2006
14
Expression of FGFR-2 and FGFR-3 in the normal human fetal orbit. 54 61
16299148 2005
15
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. 54 61
15241680 2004
16
Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). 54 61
15253176 2004
17
[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. 54 61
12764678 2003
18
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 54 61
12567409 2003
19
Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report. 54 61
11743367 2001
20
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 54 61
11846737 2001
21
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. 54 61
11424131 2001
22
Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis. 54 61
11335797 2001
23
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. 54 61
11101832 2000
24
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. 54 61
10761652 2000
25
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 54 61
9585583 1998
26
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. 54 61
9580776 1998
27
Post-traumatic proximal radioulnar synostosis: results of surgical treatment and review of the literature. 61
31570186 2020
28
Partial Suture Fusion in Nonsyndromic Single-Suture Craniosynostosis. 61
32013562 2020
29
Visualization of skull remodeling and re-ossification after reconstructive surgery and mosaic-like cranioplasty in sagittal synostosis and deformational brachycephaly1. 61
32016574 2020
30
NGS targeted screening of 100 Scandinavian patients with coronal synostosis. 61
31837199 2020
31
Fibrous Band between Extraocular Muscles in Unilateral Coronal Synostosis. 61
32037754 2020
32
Orthodontic and surgical treatment of facial asymmetry in a patient with unicoronal craniosynostosis. 61
32005478 2020
33
Intracranial Volume Post Cranial Expansion Surgery Using Three-Dimensional Computed Tomography Scan Imaging in Children With Craniosynostosis. 61
31403510 2020
34
Phenotypic variability in Muenke syndrome-observations from five Danish families. 61
31609728 2020
35
Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant. 61
31764549 2020
36
Cost comparison of surgical management of nonsagittal synostosis: traditional open versus endoscope-assisted techniques. 61
31923895 2020
37
Upward vectors for osteogenic distraction treatment in secondary chronic intracranial hypertension in children undergoing scaphocephaly surgery: 2 cases reported. 61
31925509 2020
38
SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis. 61
31592950 2020
39
Mouse fibroblast growth factor 9 N143T mutation leads to wide chondrogenic condensation of long bones. 61
32002646 2020
40
Custom-Made Three-Dimensional Models for Craniosynostosis. 61
31794452 2020
41
MRI of the distal tibiofibular joint. 61
31289899 2020
42
The role of ICP overnight monitoring (ONM) in children with suspected craniostenosis. 61
31273495 2020
43
National Database Reported Outcomes Following Craniosynostosis Reconstruction. 61
31764565 2020
44
Talus Secundarius: Case Series. 61
31989844 2020
45
Cranial growth in isolated sagittal craniosynostosis compared with normal growth in the first 6 months of age. 61
31691965 2020
46
Apert syndrome: Diagnostic and management problems in a resource-limited country. 61
31871604 2019
47
Bilateral congenital radioulnar synostosis in an Early Horizon subadult burial from the site of Atalla, Peru. 61
31837490 2019
48
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. 61
31895055 2019
49
Intracranial pressure patterns in children with craniosynostosis utilizing optical coherence tomography. 61
31848721 2019
50
Long-term 3D CT follow-up after endoscopic sagittal craniosynostosis repair. 61
31860808 2019

Variations for Synostosis

Expression for Synostosis

Search GEO for disease gene expression data for Synostosis.

Pathways for Synostosis

Pathways related to Synostosis according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 TCF12 MYH3 GDF5 FLNB FGFR3 FGFR2
2 12.62 MECOM GLI3 FGFR3 FGFR2 FGFR1
3 12.52 MECOM FLNB FGFR3 FGFR2 FGFR1
4
Show member pathways
12.16 MYH3 FGFR3 FGFR2 FGFR1
5 11.66 SMAD6 NOG GDF5
6 11.63 FGFR3 FGFR2 FGFR1 EFNB1
7 11.52 GDF5 FGFR3 FGFR2 FGFR1
8 11.45 FGFR3 FGFR2 FGFR1
9 11.36 GLI3 FGFR3 FGFR1
10 11.21 FGFR3 FGFR2 FGFR1 EFNB1
11 11.15 FGFR3 FGFR2 FGFR1
12 11.07 FGFR3 FGFR2 FGFR1
13 11.03 TWIST1 MSX2 FGFR3 FGFR2 FGFR1

GO Terms for Synostosis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 TWIST1 TCF12 SMAD6 RECQL4 NELL1 MSX2
2 cytoplasm GO:0005737 9.5 TCF12 SMAD6 RECQL4 RAB23 POR NELL1

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.16 TWIST1 TCF12 NOG NELL1 MECOM FLNB
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.15 TWIST1 NOG MSX2 GLI3 FGFR2 FGFR1
3 negative regulation of apoptotic process GO:0043066 10.09 TWIST1 SMAD6 POR MSX2 GLI3
4 regulation of gene expression GO:0010468 9.99 NELL1 HOXA11 GLI3 FGFR1
5 cell-cell signaling GO:0007267 9.96 GDF5 FGFR3 FGFR2 EFNB1
6 skeletal system development GO:0001501 9.91 NOG HOXA11 FGFR3 FGFR1
7 anterior/posterior pattern specification GO:0009952 9.89 MSX2 HOXA11 GLI3
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.89 FGFR3 FGFR2 FGFR1
9 positive regulation of MAPK cascade GO:0043410 9.89 FGFR3 FGFR2 FGFR1
10 osteoblast differentiation GO:0001649 9.88 TWIST1 NOG MSX2
11 positive regulation of neuron differentiation GO:0045666 9.88 TCF12 GDF5 FGFR1
12 in utero embryonic development GO:0001701 9.88 TWIST1 NOG GLI3 FGFR2 FGFR1
13 lung development GO:0030324 9.87 GLI3 FGFR2 FGFR1
14 fibroblast growth factor receptor signaling pathway GO:0008543 9.85 FGFR3 FGFR2 FGFR1
15 cartilage development GO:0051216 9.85 NOG MSX2 GDF5
16 muscle organ development GO:0007517 9.83 TWIST1 TCF12 MYH3 FLNB
17 positive regulation of epithelial cell proliferation GO:0050679 9.82 TWIST1 NOG FGFR2
18 negative regulation of cell differentiation GO:0045596 9.82 TWIST1 NOG GLI3
19 positive regulation of osteoblast differentiation GO:0045669 9.81 NELL1 MSX2 GLI3
20 bone development GO:0060348 9.81 TWIST1 HOXA11 FGFR2
21 wound healing GO:0042060 9.8 NOG MSX2 GLI3 FGFR2
22 negative regulation of osteoblast differentiation GO:0045668 9.79 TWIST1 SMAD6 NOG
23 dorsal/ventral pattern formation GO:0009953 9.77 NOG HOXA11 GLI3
24 BMP signaling pathway GO:0030509 9.76 SMAD6 NOG MSX2 GDF5
25 odontogenesis GO:0042476 9.75 TWIST1 MSX2 FGFR2
26 bone morphogenesis GO:0060349 9.74 MSX2 FGFR3 FGFR2
27 embryonic forelimb morphogenesis GO:0035115 9.72 TWIST1 MSX2 HOXA11
28 anatomical structure formation involved in morphogenesis GO:0048646 9.71 NOG GLI3
29 embryonic digestive tract morphogenesis GO:0048557 9.71 GLI3 FGFR2
30 endocardial cushion morphogenesis GO:0003203 9.71 TWIST1 NOG
31 outflow tract septum morphogenesis GO:0003148 9.71 SMAD6 MSX2 FGFR2
32 multicellular organism development GO:0007275 9.7 TWIST1 TCF12 RECQL4 RAB23 NOG MSX2
33 branching involved in salivary gland morphogenesis GO:0060445 9.69 FGFR2 FGFR1
34 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.69 SMAD6 NOG
35 hindlimb morphogenesis GO:0035137 9.68 TWIST1 GDF5
36 organ induction GO:0001759 9.68 HOXA11 FGFR1
37 embryonic skeletal joint morphogenesis GO:0060272 9.67 NOG HOXA11
38 membranous septum morphogenesis GO:0003149 9.67 NOG FGFR2
39 outer ear morphogenesis GO:0042473 9.66 TWIST1 FGFR1
40 lung-associated mesenchyme development GO:0060484 9.65 FGFR2 FGFR1
41 mitral valve morphogenesis GO:0003183 9.65 TWIST1 SMAD6
42 BMP signaling pathway involved in heart development GO:0061312 9.63 NOG MSX2
43 cranial suture morphogenesis GO:0060363 9.62 TWIST1 MSX2
44 ureteric bud development GO:0001657 9.62 SMAD6 NOG FGFR2 FGFR1
45 mesenchymal cell differentiation GO:0048762 9.61 NOG FGFR2 FGFR1
46 frontal suture morphogenesis GO:0060364 9.59 MSX2 GLI3
47 orbitofrontal cortex development GO:0021769 9.58 FGFR2 FGFR1
48 positive regulation of phospholipase activity GO:0010518 9.58 FGFR3 FGFR2 FGFR1
49 ventricular zone neuroblast division GO:0021847 9.56 FGFR2 FGFR1
50 positive regulation of chondrocyte differentiation GO:0032332 9.56 POR HOXA11 GLI3 GDF5

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 TWIST1 TCF12 SMAD6 RECQL4 RAB23 POR
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 TWIST1 TCF12 SMAD6 MSX2 HOXA11 GLI3
3 nucleotide binding GO:0000166 9.77 RAB23 MYH3 FGFR3 FGFR2 FGFR1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.5 FGFR3 FGFR2 FGFR1
5 fibroblast growth factor binding GO:0017134 9.33 FGFR3 FGFR2 FGFR1
6 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Synostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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