CS
MCID: CRZ001
MIFTS: 70

Crouzon Syndrome (CS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Crouzon Syndrome

Aliases & Descriptions for Crouzon Syndrome:

Name: Crouzon Syndrome 54 38 12 71 50 24 25 66 13 52 14
Crouzon Craniofacial Dysostosis 50 24 25 56 66
Craniofacial Dysostosis 12 25 42
Craniofacial Dysostosis Syndrome 25 29
Craniofacial Dysostosis Type 1 50 69
Craniofacial Dysostosis Type I 24 66
Crouzon's Disease 12 25
Crouzons Disease 25 29
Crouzon Disease 50 56
Cfd1 50 66
Craniofacial Dysostosis, Type 1; Cfd1 25
Craniofacial Dysarthrosis 25
Cs 66

Characteristics:

Orphanet epidemiological data:

56
crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
crouzon syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 123500
Disease Ontology 12 DOID:2339
ICD10 33 Q75.1
MeSH 42 D003394
NCIt 47 C84653
SNOMED-CT 64 28861008
Orphanet 56 ORPHA207
ICD10 via Orphanet 34 Q75.1
UMLS 69 C0010273

Summaries for Crouzon Syndrome

NIH Rare Diseases : 50 crouzon syndrome is a disorder characterized by early fusion of certain skull bones (craniosynostosis). this prevents normal growth of the skull, which can affect the shape of the head and face. signs and symptoms of crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw. other features may include dental problems, hearing loss, and/or cleft lip and palate. the severity of signs and symptoms can vary among affected people, even within a family. intelligence is usually normal, but intellectual disability may be present. crouzon syndrome is caused by changes (mutations) in the fgfr2 gene and is inherited in an autosomal dominant manner. treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development. last updated: 6/8/2016

MalaCards based summary : Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to crouzon syndrome with acanthosis nigricans and apert syndrome, and has symptoms including headache, hypertelorism and frontal bossing. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and eye, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.

Genetics Home Reference : 25 Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

OMIM : 54 Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of... (123500) more...

UniProtKB/Swiss-Prot : 66 Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

Wikipedia : 71 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.... more...

Related Diseases for Crouzon Syndrome

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

(show top 50) (show all 126)
id Related Disease Score Top Affiliating Genes
1 crouzon syndrome with acanthosis nigricans 33.9 FGFR1 FGFR2 FGFR3
2 apert syndrome 27.7 ALX3 BMP6 DCN ERF FGF13 FGF2
3 craniofacial dysostosis with diaphyseal hyperplasia 12.0
4 craniofacial dysostosis arthrogryposis progeroid appearence 11.9
5 cockayne syndrome 11.6
6 xeroderma pigmentosum, group d 11.5
7 cowden syndrome 1 11.4
8 gorlin-chaudhry-moss syndrome 11.4
9 xeroderma pigmentosum, group b 11.4
10 xeroderma pigmentosum, group g 11.4
11 xeroderma pigmentosum, group f 11.4
12 cockayne syndrome, type a 11.2
13 diabetes mellitus, noninsulin-dependent 11.0
14 critical illness polyneuropathy 11.0
15 cerebral creatine deficiency syndrome 11.0
16 mitochondrial cardiomyopathy 11.0
17 cerebral creatine deficiency syndrome 2 11.0
18 bartonellosis 11.0
19 cat-scratch disease 11.0
20 x-linked sideroblastic anemia with ataxia 10.9
21 cpt deficiency, hepatic, type ii 10.9
22 cowden disease 10.9
23 carnitine palmitoyltransferase ii deficiency 10.9
24 craniofacial dyssynostosis 10.9
25 potocki-shaffer syndrome 10.9
26 c syndrome 10.7
27 xeroderma pigmentosum-cockayne syndrome complex 10.7
28 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.2 FGFR1 FGFR2
29 pitx3-related anterior segment mesenchymal dysgenesis 10.2 FGFR1 FGFR2
30 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.2 FGFR2 FGFR3
31 cervical spinal canal and spinal cord meningioma 10.2 FGFR2 FGFR3
32 acanthosis nigricans 10.2
33 bladder diffuse clear cell adenocarcinoma 10.2 FGF2 TGFB1
34 acrofacial dysostosis, palagonia type 10.2 FGFR1 FGFR2
35 familial porphyria cutanea tarda 10.2 FGFR1 FGFR2 FGFR3
36 hartsfield syndrome 10.1 FGFR1 FGFR2 FGFR3
37 pointer syndrome 10.1 FGFR1 FGFR2 FGFR3
38 osteoglophonic dysplasia 10.1 FGFR1 FGFR2 FGFR3
39 joubert syndrome-3 10.1 FGF13 FGF2
40 anal paget's disease 10.1 FGF2 TGFB1
41 thanatophoric dysplasia, type i 10.1 FGFR1 FGFR2 FGFR3
42 saddan 10.1 FGFR1 FGFR2 FGFR3
43 t cell immunodeficiency primary 10.1 FGF2 FGFR1 FGFR3
44 anhidrosis 10.1 BMP6 TGFB1
45 ovarian epithelial cancer 10.1 FGF2 FGFR1 FGFR3
46 hypogonadotropic hypogonadism 2 with or without anosmia 10.1 FGFR1 FGFR2 FGFR3
47 immature teratoma of ovary 10.1 FGF13 FGF2
48 discharging ear 10.1 BMP6 TGFB1
49 muenke syndrome 10.1 FGF13 FGFR2 FGFR3
50 speech and communication disorders 10.1 BMP6 TGFB1

Graphical network of the top 20 diseases related to Crouzon Syndrome:



Diseases related to Crouzon Syndrome

Symptoms & Phenotypes for Crouzon Syndrome

Symptoms by clinical synopsis from OMIM:

123500

Clinical features from OMIM:

123500

Human phenotypes related to Crouzon Syndrome:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 56 32 Occasional (29-5%) HP:0002315
2 hypertelorism 56 32 Frequent (79-30%) HP:0000316
3 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
4 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
5 ptosis 56 32 Frequent (79-30%) HP:0000508
6 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
7 narrow palate 56 32 Occasional (29-5%) HP:0000189
8 increased intracranial pressure 56 32 Frequent (79-30%) HP:0002516
9 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
10 optic atrophy 56 32 Occasional (29-5%) HP:0000648
11 brachycephaly 56 32 Frequent (79-30%) HP:0000248
12 acanthosis nigricans 56 32 Occasional (29-5%) HP:0000956
13 strabismus 56 32 Frequent (79-30%) HP:0000486
14 melanocytic nevus 56 32 Occasional (29-5%) HP:0000995
15 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
16 cerebellar hypoplasia 56 32 Frequent (79-30%) HP:0001321
17 arnold-chiari malformation 56 32 Frequent (79-30%) HP:0002308
18 hypoplasia of the maxilla 56 32 Frequent (79-30%) HP:0000327
19 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
20 turricephaly 56 32 Frequent (79-30%) HP:0000262
21 choanal atresia 56 32 Occasional (29-5%) HP:0000453
22 multiple suture craniosynostosis 56 32 Very frequent (99-80%) HP:0011324
23 amblyopia 56 32 Occasional (29-5%) HP:0000646
24 conjunctivitis 56 32 Frequent (79-30%) HP:0000509
25 high forehead 56 32 Very frequent (99-80%) HP:0000348
26 midface retrusion 56 32 Frequent (79-30%) HP:0011800
27 convex nasal ridge 56 32 Occasional (29-5%) HP:0000444
28 proptosis 56 32 Frequent (79-30%) HP:0000520
29 iris coloboma 56 32 Occasional (29-5%) HP:0000612
30 abnormality of the sacrum 56 32 Occasional (29-5%) HP:0005107
31 narrow internal auditory canal 56 32 Occasional (29-5%) HP:0011386
32 seizures 32 HP:0001250
33 intellectual disability 32 HP:0001249
34 sleep apnea 32 HP:0010535
35 mandibular prognathia 32 HP:0000303
36 hearing impairment 56 Occasional (29-5%)
37 visual impairment 32 HP:0000505
38 abnormality of the skull 56 Very frequent (99-80%)
39 coronal craniosynostosis 32 HP:0004440
40 dental crowding 32 HP:0000678
41 atresia of the external auditory canal 32 HP:0000413
42 abnormality of the cervical spine 32 HP:0003319
43 shallow orbits 32 HP:0000586
44 sagittal craniosynostosis 32 HP:0004442
45 lambdoidal craniosynostosis 32 HP:0004443
46 craniofacial dysostosis 32 HP:0004439
47 abnormality of the nasopharynx 32 HP:0001739

UMLS symptoms related to Crouzon Syndrome:


seizures, frequent headaches

MGI Mouse Phenotypes related to Crouzon Syndrome:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.23 ALX3 DCN FGF13 FGF2 FGFR1 FGFR2
2 cellular MP:0005384 10.22 ALX3 DCN ERF FGF13 FGF2 FGFR1
3 growth/size/body region MP:0005378 10.18 ALX3 BMP6 DCN ERF FGFR1 FGFR2
4 craniofacial MP:0005382 10.16 ALX3 DCN ERF FGFR1 FGFR2 FGFR3
5 mortality/aging MP:0010768 10.13 FGFR2 FGFR3 MSX2 TGFB1 ALX3 DCN
6 hematopoietic system MP:0005397 10.1 DCN ERF FGF2 FGFR1 FGFR2 FGFR3
7 digestive/alimentary MP:0005381 10.09 DCN FGFR1 FGFR2 FGFR3 MSX2 TGFB1
8 embryo MP:0005380 10.01 ERF FGFR1 FGFR2 MSX2 TGFB1 ALX3
9 nervous system MP:0003631 9.97 ALX3 ERF FGF13 FGF2 FGFR1 FGFR2
10 integument MP:0010771 9.95 DCN FGFR1 FGFR2 FGFR3 MSX2 TGFB1
11 hearing/vestibular/ear MP:0005377 9.91 FGF2 FGFR1 FGFR2 FGFR3 MSX2
12 muscle MP:0005369 9.88 FGFR1 FGFR2 MSX2 TGFB1 DCN FGF2
13 limbs/digits/tail MP:0005371 9.85 ALX3 FGFR1 FGFR2 FGFR3 MSX2
14 neoplasm MP:0002006 9.77 DCN FGF2 FGFR2 FGFR3 TGFB1
15 reproductive system MP:0005389 9.76 ALX3 BMP6 DCN FGF2 FGFR1 FGFR2
16 normal MP:0002873 9.73 DCN ERF FGFR1 FGFR2 FGFR3 MSX2
17 skeleton MP:0005390 9.65 FGFR2 FGFR3 MSX2 TGFB1 ALX3 BMP6
18 vision/eye MP:0005391 9.23 ALX3 DCN FGF2 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Crouzon Syndrome

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

(show all 43)
id 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 Mitogens Phase 4,Phase 2,Phase 1
6
Simvastatin Approved Phase 2 79902-63-9 54454
7
Benzocaine Approved 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
ponatinib Approved Phase 2 943319-70-8 24826799
11 tannic acid Approved, Nutraceutical Phase 1, Phase 2
12 Anticholesteremic Agents Phase 2
13 Antimetabolites Phase 2
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
15 Hypolipidemic Agents Phase 2
16 Lipid Regulating Agents Phase 2
17 Neurotransmitter Agents Phase 2
18 Anticonvulsants Phase 2
19 Antimanic Agents Phase 2
20 Central Nervous System Depressants Phase 2
21 GABA Agents Phase 2
22 Histone Deacetylase Inhibitors Phase 2
23 Psychotropic Drugs Phase 2
24 Tranquilizing Agents Phase 2
25 PONATINIB  Phase 2
26 Protein Kinase Inhibitors Phase 2
27 Liver Extracts Phase 1, Phase 2
28 Phytosterol Nutraceutical Phase 1, Phase 2
29 tyrosine Nutraceutical Phase 1, Phase 2
30 Antibodies Phase 1
31 Immunoglobulins Phase 1
32
Adenosine Approved, Investigational 58-61-7 60961
33
Menthol Approved 2216-51-5 16666
34 Analgesics
35 Anti-Arrhythmia Agents
36 Peripheral Nervous System Agents
37 Vasodilator Agents
38
Bilirubin 635-65-4 5280352
39 Anesthetics
40 Antioxidants
41 Protective Agents
42 Calcium, Dietary
43 Calamus Nutraceutical

Interventional clinical trials:

(show top 50) (show all 55)
id Name Status NCT ID Phase
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4
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
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
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
11 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2
12 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
13 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2
14 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2
15 Dovitinib for Gastric Cancer With FGFR2 Amplification Recruiting NCT01719549 Phase 2
16 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Recruiting NCT02265341 Phase 2
17 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Active, not recruiting NCT01752920 Phase 1, Phase 2
18 Pan FGFR Kinase Inhibitor BGJ398 in Treating Patients With FGFR1-3 Translocated, Mutated, or Amplified Recurrent Head and Neck Cancer Not yet recruiting NCT02706691 Phase 2
19 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1
20 Phase I, Dose-escalation Trial of BAY1187982 in Subjects With Advanced Solid Tumors Known to Express Fibroblast Growth Factor Receptor 2 (FGFR2) Terminated NCT02368951 Phase 1
21 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
22 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745
23 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
24 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
25 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
26 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
27 Child and Infant Learning Project Completed NCT00077831
28 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
29 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
30 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321
31 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
32 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
33 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
34 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
35 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
36 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
37 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
38 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278
39 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
40 MRI for Non-invasive Evaluation of Brain Stress Recruiting NCT01898650
41 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
42 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
43 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
44 Osteogenic Profiling of Tissue From Children With Craniosynostosis Recruiting NCT00773643
45 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
46 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
47 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
48 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308
49 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
50 Role of Mesenchymal Stem Cells in Fat Grafting Not yet recruiting NCT02494752

Search NIH Clinical Center for Crouzon Syndrome

Cochrane evidence based reviews: craniofacial dysostosis

Genetic Tests for Crouzon Syndrome

Genetic tests related to Crouzon Syndrome:

id Genetic test Affiliating Genes
1 Crouzon Syndrome 29 24 FGFR2
2 Craniofacial Dysostosis 29

Anatomical Context for Crouzon Syndrome

MalaCards organs/tissues related to Crouzon Syndrome:

39
Bone, Eye, Skin, Testes, Trachea, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:
id Tissue Anatomical CompartmentCell Relevance
1 Bone Rostral Skull Membranous Bones Intramembrenous Osteocytes Affected by disease

Publications for Crouzon Syndrome

Articles related to Crouzon Syndrome:

(show top 50) (show all 176)
id Title Authors Year
1
Crouzon syndrome with multiple supernumerary teeth. ( 28091449 )
2017
2
The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. ( 28479031 )
2017
3
Anesthetic Implications in a Child with Crouzon Syndrome. ( 28298794 )
2017
4
Midface Distraction Osteogenesis Using a Modified External Device With Elastic Distraction for Crouzon Syndrome. ( 28060091 )
2017
5
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome. ( 27803855 )
2016
6
Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management. ( 26613275 )
2016
7
High Le Fort I osteotomy for correction of mid-face deformity in Crouzon syndrome. ( 27092811 )
2016
8
Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. ( 27430617 )
2016
9
Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors. ( 27563623 )
2016
10
Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients. ( 27424047 )
2016
11
The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. ( 27391494 )
2016
12
Crouzon Syndrome: Report in a Family. ( 26894196 )
2016
13
Surgical Treatment of V-pattern Exotropia in Crouzon Syndrome. ( 26098546 )
2015
14
Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome. ( 25993748 )
2015
15
Family of Crouzon Syndrome Represents the Evolution of the Frontofacial Monobloc Advancement Technique: From Immediate Movement to Monobloc Distraction to Monobloc Bipartition Distraction. ( 26267562 )
2015
16
Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome. ( 26302737 )
2015
17
Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus. ( 26176876 )
2015
18
Lumboatrial shunt in a patient with Crouzon syndrome complicated by pseudotumor cerebri. ( 26021731 )
2015
19
Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. ( 25650655 )
2015
20
A Novel Technique Using Customized Headgear for Fixation of Rigid External Distraction Device in an Infant With Crouzon Syndrome. ( 26594993 )
2015
21
Deep Venous Thrombosis in Teen With Crouzon Syndrome Post-Le Fort III Osteotomy With Rigid External Distraction. ( 26595005 )
2015
22
Crouzon Syndrome: Visual Diagnosis. ( 26283152 )
2015
23
S267P Mutation in FGFR2: First Report in a Patient With Crouzon Syndrome. ( 25759927 )
2015
24
Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. ( 26194556 )
2015
25
The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity. ( 25759925 )
2015
26
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. ( 25245177 )
2014
27
Correction of infraorbital and malar deficiency using costal osteochondral graft along with orthognathic surgery in Crouzon syndrome. ( 25153066 )
2014
28
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. ( 23913723 )
2014
29
Orbitofrontal monobloc advancement for Crouzon syndrome. ( 24530078 )
2014
30
Non surgical treatment of Crouzon syndrome. ( 25209230 )
2014
31
Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome. ( 25071892 )
2014
32
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. ( 25174698 )
2014
33
Identification of causative mutation in a korean family with crouzon syndrome using whole exome sequencing. ( 25361936 )
2014
34
Crouzon syndrome with bony upper airway obstruction: case report and review literature. ( 24828762 )
2014
35
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome]. ( 24928000 )
2014
36
A case of Crouzon syndrome treated by simultaneous bimaxillary distraction. ( 23886558 )
2014
37
Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome. ( 24741262 )
2014
38
Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. ( 24476664 )
2014
39
Three-dimensional precise orientation of bilateral auricular trial prosthesis using a facebow for a young adult with Crouzon syndrome. ( 25096652 )
2014
40
The spheno-occipital synchondrosis fuses prematurely in patients with Crouzon syndrome and midface hypoplasia compared with age- and gender-matched controls. ( 24480760 )
2014
41
Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus. ( 24346169 )
2014
42
Foramen magnum size and involvement of its intraoccipital synchondroses in Crouzon syndrome. ( 24281646 )
2013
43
Management of Crouzon syndrome in an adult patient. ( 24378546 )
2013
44
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. ( 23808569 )
2013
45
Psychosocial conditions in adults with Crouzon syndrome: a follow-up study of 31 Swedish patients. ( 24328900 )
2013
46
High le fort I and bilateral split sagittal osteotomy in crouzon syndrome. ( 23714981 )
2013
47
Cutaneous features of Crouzon syndrome with acanthosis nigricans. ( 23571469 )
2013
48
Crouzon syndrome. ( 22605842 )
2012
49
Crouzon syndrome--A case report. ( 22623473 )
2012
50
Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings. ( 23986840 )
2012

Variations for Crouzon Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Crouzon Syndrome:

66 (show all 37)
id Symbol AA change Variation ID SNP ID
1 FGFR2 p.Tyr105Cys VAR_004112
2 FGFR2 p.Ser252Leu VAR_004113 rs79184941
3 FGFR2 p.Ser267Pro VAR_004118 rs121918505
4 FGFR2 p.Phe276Val VAR_004120
5 FGFR2 p.Cys278Phe VAR_004121 rs776587763
6 FGFR2 p.Gln289Pro VAR_004123 rs121918497
7 FGFR2 p.Trp290Arg VAR_004125 rs121918501
8 FGFR2 p.Lys292Glu VAR_004126 rs121918500
9 FGFR2 p.Tyr301Cys VAR_004127
10 FGFR2 p.Tyr328Cys VAR_004130 rs121918493
11 FGFR2 p.Asn331Ile VAR_004131
12 FGFR2 p.Gly338Glu VAR_004133
13 FGFR2 p.Tyr340His VAR_004134 rs121918489
14 FGFR2 p.Thr341Pro VAR_004135 rs121918495
15 FGFR2 p.Cys342Phe VAR_004136
16 FGFR2 p.Cys342Arg VAR_004137 rs121918488
17 FGFR2 p.Cys342Ser VAR_004138 rs121918488
18 FGFR2 p.Cys342Tyr VAR_004139 rs121918487
19 FGFR2 p.Ala344Gly VAR_004140 rs121918492
20 FGFR2 p.Ala344Pro VAR_004141
21 FGFR2 p.Ser347Cys VAR_004142 rs121918494
22 FGFR2 p.Ser351Cys VAR_004143 rs121918502
23 FGFR2 p.Ser354Cys VAR_004144 rs121918490
24 FGFR2 p.Val359Phe VAR_004146
25 FGFR2 p.Gly384Arg VAR_004147
26 FGFR2 p.Gly338Arg VAR_015011
27 FGFR2 p.Pro263Leu VAR_017261 rs779326224
28 FGFR2 p.Cys278Tyr VAR_017263
29 FGFR2 p.Tyr281Cys VAR_017264
30 FGFR2 p.Ile288Ser VAR_017265
31 FGFR2 p.Trp290Gly VAR_017266 rs121918501
32 FGFR2 p.Ala337Pro VAR_017268 rs387906676
33 FGFR2 p.Cys342Trp VAR_017271 rs121918496
34 FGFR2 p.Ser354Tyr VAR_017272
35 FGFR2 p.Ala362Ser VAR_017273
36 FGFR2 p.Asn549His VAR_017276
37 FGFR2 p.Arg678Gly VAR_017281

ClinVar genetic disease variations for Crouzon Syndrome:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
2 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
3 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
4 FGFR2 NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His) single nucleotide variant Pathogenic rs121918489 GRCh37 Chromosome 10, 123276899: 123276899
5 FGFR2 NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys) single nucleotide variant Pathogenic rs121918490 GRCh37 Chromosome 10, 123276856: 123276856
6 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
7 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
8 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
9 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh37 Chromosome 10, 123276886: 123276886
10 FGFR2 NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs121918493 GRCh37 Chromosome 10, 123276934: 123276934
11 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic rs121918494 GRCh37 Chromosome 10, 123276877: 123276877
12 FGFR2 NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp) single nucleotide variant Pathogenic rs121918496 GRCh37 Chromosome 10, 123276891: 123276891
13 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
14 FGFR2 NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu) single nucleotide variant Pathogenic rs121918500 GRCh37 Chromosome 10, 123279558: 123279558
15 FGFR2 NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
16 FGFR2 NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
17 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
18 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh37 Chromosome 10, 123258105: 123258105
19 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
20 FGFR2 NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs387906676 GRCh37 Chromosome 10, 123276908: 123276908
21 FGFR2 NM_000141.4(FGFR2): c.869G> C (p.Trp290Ser) single nucleotide variant Pathogenic rs1057519039 GRCh38 Chromosome 10, 121520049: 121520049
22 FGFR2 NM_000141.4(FGFR2): c.842A> G (p.Tyr281Cys) single nucleotide variant Likely pathogenic rs1057519038 GRCh37 Chromosome 10, 123279590: 123279590
23 FGFR2 NM_000141.4(FGFR2): c.1645A> C (p.Asn549His) single nucleotide variant Likely pathogenic rs1057519045 GRCh37 Chromosome 10, 123258036: 123258036
24 FGFR2 NM_000141.4(FGFR2): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic rs1057519044 GRCh38 Chromosome 10, 121517390: 121517390
25 FGFR2 NM_000141.4(FGFR2): c.1012G> C (p.Gly338Arg) single nucleotide variant Pathogenic rs1057519043 GRCh38 Chromosome 10, 121517391: 121517391
26 FGFR2 NM_000141.4(FGFR2): c.1007A> G (p.Asp336Gly) single nucleotide variant Pathogenic rs1057519042 GRCh38 Chromosome 10, 121517396: 121517396
27 FGFR2 NM_000141.4(FGFR2): c.923A> G (p.Tyr308Cys) single nucleotide variant Pathogenic rs1057519040 GRCh37 Chromosome 10, 123279509: 123279509
28 FGFR2 NM_000141.4(FGFR2): c.826T> G (p.Phe276Val) single nucleotide variant Pathogenic rs1057519036 GRCh37 Chromosome 10, 123279606: 123279606

Expression for Crouzon Syndrome

Search GEO for disease gene expression data for Crouzon Syndrome.

Pathways for Crouzon Syndrome

Pathways related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show all 47)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.71 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
3
Show member pathways
13.59 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.45 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
5
Show member pathways
13.43 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.3 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.18 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.14 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.12 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.92 FGF13 FGF2 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.89 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.86 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.74 FGFR1 FGFR2 FGFR3 TGFB1
14
Show member pathways
12.73 FGF2 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.65 FGF13 FGF2 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.62 FGF2 FGFR1 FGFR2 FGFR3
17 12.58 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
18 12.54 FGF13 FGF2 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.5 FGF2 FGFR1 FGFR2 FGFR3
20 12.5 FGF13 FGF2 FGFR1 FGFR2 FGFR3
21 12.48 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
22
Show member pathways
12.36 FGF2 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.32 FGF13 FGF2 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.32 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.27 FGF13 FGF2 FGFR1 FGFR2 FGFR3
26 12.25 DCN FGF2 FGFR1 TGFB1
27
Show member pathways
12.22 FGF2 FGFR1 FGFR2 FGFR3
28
Show member pathways
12.17 FGF2 FGFR1 FGFR2 FGFR3
29
Show member pathways
12.1 FGF2 FGFR1 FGFR2 FGFR3
30
Show member pathways
12.08 FGFR1 FGFR2 FGFR3
31
Show member pathways
12.06 FGF2 FGFR2 TGFB1
32 12.04 FGF2 FGFR1 FGFR2 FGFR3
33 12.02 FGF2 FGFR1 FGFR2 FGFR3
34 11.98 FGF13 FGF2 TGFB1
35 11.77 FGF2 FGFR1 FGFR2 FGFR3 MSX2
36 11.76 BMP6 DCN TGFB1
37 11.74 FGF2 FGFR1 FGFR3
38 11.7 BMP6 DCN FGF2 MSX2 TGFB1
39 11.63 FGFR1 FGFR2 FGFR3
40 11.59 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
41 11.5 FGF2 FGFR1 TGFB1
42 11.45 FGFR1 FGFR2 FGFR3
43 11.19 FGF2 FGFR1
44 11.17 BMP6 FGF2 FGFR1 FGFR3 TGFB1
45 11.14 FGF2 FGFR1 TGFB1
46 11.07 FGF2 FGFR2
47 10.86 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3

GO Terms for Crouzon Syndrome

Cellular components related to Crouzon Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 BMP6 DCN FGF13 FGF2 FGFR1 FGFR2

Biological processes related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.99 BMP6 ERF FGFR1 FGFR2 MSX2 TGFB1
2 regulation of apoptotic process GO:0042981 9.93 ALX3 BMP6 MSX2 TGFB1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 FGF2 FGFR2 FGFR3 TGFB1
4 protein autophosphorylation GO:0046777 9.87 FGFR1 FGFR2 FGFR3
5 peptidyl-tyrosine phosphorylation GO:0018108 9.87 FGF2 FGFR1 FGFR2 FGFR3
6 skeletal system development GO:0001501 9.85 BMP6 FGFR1 FGFR3
7 animal organ morphogenesis GO:0009887 9.85 DCN FGF2 FGFR2
8 BMP signaling pathway GO:0030509 9.82 BMP6 MSX2 TGFB1
9 positive regulation of MAPK cascade GO:0043410 9.81 FGFR1 FGFR2 FGFR3
10 positive regulation of epithelial cell proliferation GO:0050679 9.8 BMP6 FGFR2 TGFB1
11 positive regulation of MAP kinase activity GO:0043406 9.8 FGF2 FGFR1 TGFB1
12 phosphatidylinositol-mediated signaling GO:0048015 9.78 FGF2 FGFR1 FGFR2 FGFR3
13 positive regulation of cell division GO:0051781 9.77 FGF2 FGFR2 TGFB1
14 ureteric bud development GO:0001657 9.75 FGFR1 FGFR2 TGFB1
15 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF2 FGFR1 FGFR2 FGFR3
16 midbrain development GO:0030901 9.72 FGFR1 FGFR2
17 chondrocyte differentiation GO:0002062 9.72 FGFR1 FGFR3 TGFB1
18 bone mineralization GO:0030282 9.71 FGFR2 FGFR3
19 positive regulation of bone mineralization GO:0030501 9.71 BMP6 TGFB1
20 embryonic cranial skeleton morphogenesis GO:0048701 9.71 ALX3 FGFR2
21 digestive tract development GO:0048565 9.71 FGFR2 TGFB1
22 odontogenesis GO:0042476 9.71 FGFR2 MSX2
23 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 FGF2 FGFR1 FGFR2 FGFR3
24 embryonic forelimb morphogenesis GO:0035115 9.7 ALX3 MSX2
25 embryonic hindlimb morphogenesis GO:0035116 9.7 ALX3 MSX2
26 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FGFR1 FGFR2
27 endochondral ossification GO:0001958 9.7 BMP6 FGFR3
28 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.7 FGF2 FGFR3 TGFB1
29 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.69 FGFR2 TGFB1
30 outflow tract septum morphogenesis GO:0003148 9.68 FGFR2 MSX2
31 positive regulation of blood vessel endothelial cell migration GO:0043536 9.68 FGF2 TGFB1
32 hyaluronan catabolic process GO:0030214 9.68 FGF2 TGFB1
33 negative regulation of blood vessel endothelial cell migration GO:0043537 9.67 FGF2 TGFB1
34 branching involved in salivary gland morphogenesis GO:0060445 9.67 FGFR1 FGFR2
35 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3 MSX2
36 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.67 FGF2 FGFR1 FGFR2 FGFR3
37 positive regulation of SMAD protein import into nucleus GO:0060391 9.66 BMP6 TGFB1
38 salivary gland morphogenesis GO:0007435 9.66 FGFR1 TGFB1
39 lung-associated mesenchyme development GO:0060484 9.65 FGFR1 FGFR2
40 mesenchymal cell differentiation GO:0048762 9.65 FGFR1 FGFR2
41 positive regulation of phospholipase C activity GO:0010863 9.64 FGF2 FGFR1
42 positive regulation of cardiac muscle cell proliferation GO:0060045 9.63 FGF2 FGFR1 FGFR2
43 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.62 FGF2 FGFR1 FGFR2 FGFR3
44 frontal suture morphogenesis GO:0060364 9.61 MSX2 TGFB1
45 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.61 FGF2 FGFR1
46 orbitofrontal cortex development GO:0021769 9.6 FGFR1 FGFR2
47 ventricular zone neuroblast division GO:0021847 9.56 FGFR1 FGFR2
48 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.54 FGFR1 FGFR2
49 positive regulation of phospholipase activity GO:0010518 9.43 FGFR1 FGFR2 FGFR3
50 MAPK cascade GO:0000165 9.43 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1

Molecular functions related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.71 FGF2 FGFR1 FGFR2 FGFR3
2 cytokine activity GO:0005125 9.67 BMP6 FGF2 TGFB1
3 growth factor activity GO:0008083 9.67 BMP6 FGF13 FGF2 TGFB1
4 heparin binding GO:0008201 9.65 FGF2 FGFR1 FGFR2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 FGFR1 FGFR2 FGFR3
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.62 FGF2 FGFR1 FGFR2 FGFR3
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 FGF2 FGFR1 FGFR2 FGFR3
8 receptor-receptor interaction GO:0090722 9.43 FGF2 FGFR1
9 fibroblast growth factor binding GO:0017134 9.43 FGFR1 FGFR2 FGFR3
10 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF2 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Crouzon Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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