CS
MCID: CRZ001
MIFTS: 67

Crouzon Syndrome (CS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Crouzon Syndrome

MalaCards integrated aliases for Crouzon Syndrome:

Name: Crouzon Syndrome 57 12 75 53 25 74 37 29 13 55 6 15 40
Crouzon Craniofacial Dysostosis 57 53 25 59 74
Craniofacial Dysostosis 12 75 25 44 33
Cfd1 57 53 74
Craniofacial Dysostosis Type 1 53 72
Crouzon's Disease 12 25
Crouzon Disease 53 59
Craniofacial Dysostosis, Type I; Cfd1 57
Craniofacial Dysostosis, Type 1; Cfd1 25
Craniofacial Dysostosis Syndrome 25
Craniofacial Dysostosis, Type I 57
Craniofacial Dysostosis Type I 74
Craniofacial Dysarthrosis 25
Crouzons Disease 25
Cs 74

Characteristics:

Orphanet epidemiological data:

59
crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
associated with increased paternal age


HPO:

32
crouzon syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2339
OMIM 57 123500
KEGG 37 H01754
MeSH 44 D003394
NCIt 50 C84653
SNOMED-CT 68 28861008
ICD10 33 Q75.1
ICD10 via Orphanet 34 Q75.1
Orphanet 59 ORPHA207
UMLS 72 C0010273 C2931196

Summaries for Crouzon Syndrome

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. Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence.

MalaCards based summary : Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to exophthalmos and pfeiffer syndrome, and has symptoms including seizures and frequent headaches. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Clavulanate and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and eye, and related phenotypes are frontal bossing and abnormal facial shape

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.

NIH Rare Diseases : 53 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.

OMIM : 57 Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000). (123500)

KEGG : 37
Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations of FGFR2 cause three classical craniosynostosis syndromes, Apert, Crouzon and Pfeiffer. Crouzon syndrome is usually the mildest of the FGFR2-associated disorders and the clinical diagnosis is suggested by the combination of characteristic facies and absence of major abnormalities of the hands and feet. It has also been reported that a mutation of FGFR3 gene causes Crouzon syndrome with acanthosis nigricans.

UniProtKB/Swiss-Prot : 74 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 : 75 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 441)
# Related Disease Score Top Affiliating Genes
1 exophthalmos 31.5 TGFB1 FGFR3 FGFR2
2 pfeiffer syndrome 31.0 FGFR3 FGFR2 FGFR1
3 apert syndrome 30.9 FGFR3 FGFR2 FGFR1 FGF2
4 jackson-weiss syndrome 30.8 FGFR3 FGFR2 FGFR1
5 achondroplasia 30.8 FGFR3 FGFR2 FGFR1
6 beare-stevenson cutis gyrata syndrome 30.8 FGFR3 FGFR2
7 synostosis 30.7 MSX2 FGFR3 FGFR2 FGFR1
8 hydrocephalus 30.6 TGFB1 FGFR3 FGFR2
9 hypochondroplasia 30.5 FGFR3 FGFR2 FGFR1
10 plagiocephaly 30.3 FGFR3 FGFR2 FGFR1
11 radioulnar synostosis 30.3 FGFR3 FGFR2 FGFR1
12 thanatophoric dysplasia, type i 30.1 FGFR3 FGFR2 FGFR1 FGF13
13 saethre-chotzen syndrome 30.0 MSX2 FGFR3 FGFR2 FGFR1
14 cleft palate, isolated 29.9 TCOF1 FGFR2 FGFR1 ALX3
15 myelofibrosis 29.6 TGFB1 FGF2 BMP6
16 craniosynostosis 29.3 MSX2 IL11RA FGFR3 FGFR2 FGFR1 FGF2
17 muenke syndrome 29.1 FGFR3 FGFR2 FGFR1 FGF2 FGF13
18 crouzon syndrome with acanthosis nigricans 12.9
19 craniofacial dysostosis with diaphyseal hyperplasia 12.7
20 craniofacial dysostosis arthrogryposis progeroid appearence 12.3
21 obsolete: craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome 12.3
22 fontaine progeroid syndrome 12.3
23 cockayne syndrome 12.1
24 cowden syndrome 12.1
25 xeroderma pigmentosum, complementation group d 11.9
26 xeroderma pigmentosum, complementation group g 11.9
27 xeroderma pigmentosum, complementation group f 11.8
28 xeroderma pigmentosum, complementation group b 11.8
29 primary pigmented nodular adrenocortical disease 11.6
30 craniofacial dyssynostosis 11.6
31 acth-independent macronodular adrenal hyperplasia 11.6
32 potocki-shaffer syndrome 11.6
33 xeroderma pigmentosum-cockayne syndrome complex 11.5
34 cardiogenic shock 11.5
35 costello syndrome 11.5
36 cockayne syndrome a 11.4
37 christianson syndrome 11.4
38 cowden syndrome 1 11.4
39 diabetes mellitus, noninsulin-dependent 11.4
40 mitochondrial metabolism disease 11.4
41 mucopolysaccharidosis, type vii 11.4
42 body mass index quantitative trait locus 11 11.3
43 anemia, sideroblastic, and spinocerebellar ataxia 11.3
44 carnitine palmitoyltransferase ii deficiency, infantile 11.3
45 acute hemorrhagic leukoencephalitis 11.3
46 cerebral creatine deficiency syndrome 2 11.3
47 epidemic typhus 11.3
48 endemic typhus 11.3
49 cerebral creatine deficiency syndrome 11.3
50 bartonellosis 11.3

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



Diseases related to Crouzon Syndrome

Symptoms & Phenotypes for Crouzon Syndrome

Human phenotypes related to Crouzon Syndrome:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
3 multiple suture craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011324
4 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
5 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
6 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
7 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
8 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
9 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
10 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
11 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
12 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
13 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
14 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
15 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
16 conjunctivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000509
17 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
18 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
19 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
20 narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000189
21 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
22 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
23 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
24 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
25 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
26 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
27 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
28 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
29 convex nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000444
30 narrow internal auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0011386
31 abnormal sacrum morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005107
32 intellectual disability 32 occasional (7.5%) HP:0001249
33 seizures 32 HP:0001250
34 sleep apnea 32 HP:0010535
35 mandibular prognathia 32 HP:0000303
36 hearing impairment 59 Occasional (29-5%)
37 visual impairment 32 HP:0000505
38 abnormality of the skull 59 Very frequent (99-80%)
39 keratitis 32 HP:0000491
40 coronal craniosynostosis 32 HP:0004440
41 dental crowding 32 HP:0000678
42 atresia of the external auditory canal 32 HP:0000413
43 abnormality of the cervical spine 32 HP:0003319
44 craniofacial dysostosis 32 HP:0004439
45 shallow orbits 32 HP:0000586
46 sagittal craniosynostosis 32 HP:0004442
47 dysgerminoma 32 HP:0100621
48 lambdoidal craniosynostosis 32 HP:0004443
49 abnormality of the nasopharynx 32 HP:0001739

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
proptosis
shallow orbits
more
Neurologic Central Nervous System:
seizures
frequent headaches
mental retardation, occasional

Head And Neck Head:
brachycephaly
craniosynostosis

Head And Neck Ears:
conductive hearing loss
atretic external auditory canals

Head And Neck Mouth:
lateral palatal swellings

Skeletal Skull:
craniosynostosis (coronal, sagittal, lambdoid sutures)
calcification of stylohyoid ligament

Head And Neck Face:
frontal bossing
maxillary hypoplasia
mandibular prognathism

Respiratory Nasopharynx:
sleep apnea

Head And Neck Teeth:
dental crowding

Head And Neck Nose:
parrot-like nose

Genitourinary Internal Genitalia Female:
dysgerminoma (in 1 patient)

Skeletal Spine:
cervical spine abnormalities

Clinical features from OMIM:

123500

UMLS symptoms related to Crouzon Syndrome:


seizures, frequent headaches

MGI Mouse Phenotypes related to Crouzon Syndrome:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 ALX3 DCN ERF FGF13 FGF2 FGFR1
2 mortality/aging MP:0010768 10.27 ALX3 DCN ERF FGF13 FGF2 FGFR1
3 growth/size/body region MP:0005378 10.26 ALX3 BMP6 DCN ERF FGFR1 FGFR2
4 behavior/neurological MP:0005386 10.24 ALX3 DCN FGF13 FGF2 FGFR1 FGFR2
5 craniofacial MP:0005382 10.22 ALX3 DCN ERF FGFR1 FGFR2 FGFR3
6 cardiovascular system MP:0005385 10.19 ERF FGF2 FGFR1 FGFR2 MSX2 RPS6KB2
7 digestive/alimentary MP:0005381 10.16 ALX3 DCN FGFR1 FGFR2 FGFR3 MSX2
8 hematopoietic system MP:0005397 10.15 DCN ERF FGF2 FGFR1 FGFR2 FGFR3
9 endocrine/exocrine gland MP:0005379 10.14 ALX3 DCN FGFR1 FGFR2 MSX2 RPS6KB2
10 embryo MP:0005380 10.09 ALX3 ERF FGFR1 FGFR2 MSX2 TCOF1
11 nervous system MP:0003631 10.07 ALX3 ERF FGF13 FGF2 FGFR1 FGFR2
12 muscle MP:0005369 10.03 DCN FGF2 FGFR1 FGFR2 MSX2 RPS6KB2
13 hearing/vestibular/ear MP:0005377 9.99 FGF2 FGFR1 FGFR2 FGFR3 MSX2 TCOF1
14 reproductive system MP:0005389 9.96 ALX3 BMP6 DCN FGF2 FGFR1 FGFR2
15 limbs/digits/tail MP:0005371 9.95 ALX3 FGFR1 FGFR2 FGFR3 MSX2 TGFBR3
16 neoplasm MP:0002006 9.88 DCN FGF2 FGFR2 FGFR3 RPS6KB2 TGFB1
17 normal MP:0002873 9.87 DCN ERF FGFR1 FGFR2 FGFR3 MSX2
18 skeleton MP:0005390 9.73 ALX3 BMP6 DCN ERF FGF2 FGFR1
19 respiratory system MP:0005388 9.63 ALX3 DCN FGFR2 FGFR3 TCOF1 TGFB1
20 vision/eye MP:0005391 9.28 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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clavulanate Approved, Vet_approved 58001-44-8 5280980
2
Amoxicillin Approved, Vet_approved 26787-78-0 33613
3
Adenosine Approved, Investigational 58-61-7 60961
4 Anti-Bacterial Agents
5 Antibiotics, Antitubercular
6 Amoxicillin-Potassium Clavulanate Combination
7 Anti-Infective Agents
8 beta-Lactamase Inhibitors
9 Neurotransmitter Agents
10 Analgesics
11 Peripheral Nervous System Agents
12 Purinergic P1 Receptor Agonists
13 Anti-Arrhythmia Agents
14 Vasodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficiency of Postoperative Antibiotics in Orthognathic Surgery: A Prospective, Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02740647 Amoxicillin Clavulanate;Placebo
2 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
3 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994
4 Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome Terminated NCT01307475

Search NIH Clinical Center for Crouzon Syndrome

Cochrane evidence based reviews: craniofacial dysostosis

Genetic Tests for Crouzon Syndrome

Genetic tests related to Crouzon Syndrome:

# Genetic test Affiliating Genes
1 Crouzon Syndrome 29 FGFR2

Anatomical Context for Crouzon Syndrome

MalaCards organs/tissues related to Crouzon Syndrome:

41
Bone, Eye, Skin, Brain, Heart, Testes, Tongue
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:
# 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 533)
# Title Authors PMID Year
1
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 9 38 8 71
7874170 1994
2
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 9 38 8 71
7987400 1994
3
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 8 71
26362256 2015
4
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 9 38 8
10712195 2000
5
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 9 38 8
7493034 1995
6
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 9 38 71
7581378 1995
7
Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. 9 38 71
7607643 1995
8
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 9 38 71
8528214 1995
9
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 9 38 71
7773284 1995
10
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 9 38 71
7719345 1995
11
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. 38 8
20635358 2010
12
FGFR-Related Craniosynostosis Syndromes 38 71
20301628 1998
13
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 38 71
9152842 1997
14
Mutation detection in FGFR2 craniosynostosis syndromes. 38 71
9048930 1997
15
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 38 71
8644708 1996
16
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis. 38 71
8522336 1995
17
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 38 71
7655462 1995
18
A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. 38 8
7920632 1994
19
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. 38 8
1633640 1992
20
Germinal mosaicism in Crouzon syndrome. 38 8
2323783 1990
21
Germinal mosaicism in Crouzon syndrome. 38 8
3359675 1988
22
Completely cartilaginous trachea in a child with Crouzon syndrome. 38 8
6546324 1984
23
Older paternal age and fresh gene mutation: data on additional disorders. 38 8
1110452 1975
24
An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome). 38 8
4697859 1973
25
Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. 8
17132737 2006
26
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 71
16158432 2005
27
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 71
16061565 2005
28
Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G). 71
15286168 2004
29
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 71
10633130 2000
30
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 71
10394936 1999
31
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 71
9677057 1998
32
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 71
9385368 1997
33
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. 71
9169049 1997
34
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 71
8957519 1996
35
Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. 8
7674004 1995
36
Craniofacial syndromes: no such thing as a single gene disease. 71
7719329 1995
37
Insidious onset of familial craniosynostosis. 8
8399270 1993
38
Related fibroblast growth factor receptor genes exist in the human genome. 71
2172978 1990
39
Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors. 71
1697263 1990
40
Delayed and progressive multiple suture craniosynostosis. 8
2320213 1990
41
Variable expressivity of Crouzon's syndrome within a family. 8
265609 1977
42
Cranio-facial Dysostosis in a Dorset Family. 8
21032436 1966
43
Craniofacial dysostosis: Crouzon's disease. 8
13613870 1959
44
Craniofacial dysostosis of Crouzon; a case report and pedigree with emphasis on heredity. 8
13613871 1959
45
[A family of pseudo-Crouzon]. 8
14390947 1955
46
[Cranial dysostosis with cerebriform calva]. 8
13082990 1953
47
Hereditary craniofacial dysplasia. 8
14914838 1952
48
Cranio-facial dysostosis of Crouzon; report of a case in which the malformation occurred in four generations. 8
15404650 1950
49
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 9 38
19622626 2009
50
[FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient]. 9 38
18393251 2008

Variations for Crouzon Syndrome

ClinVar genetic disease variations for Crouzon Syndrome:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGFR2 NM_000141.4(FGFR2): c.1012G> C (p.Gly338Arg) single nucleotide variant Pathogenic rs1057519043 10:123276905-123276905 10:121517391-121517391
2 FGFR2 NM_000141.4(FGFR2): c.1007A> G (p.Asp336Gly) single nucleotide variant Pathogenic rs1057519042 10:123276910-123276910 10:121517396-121517396
3 FGFR2 NM_000141.4(FGFR2): c.923A> G (p.Tyr308Cys) single nucleotide variant Pathogenic rs1057519040 10:123279509-123279509 10:121519995-121519995
4 FGFR2 NM_000141.4(FGFR2): c.869G> C (p.Trp290Ser) single nucleotide variant Pathogenic rs1057519039 10:123279563-123279563 10:121520049-121520049
5 TCOF1 NM_000356.4(TCOF1): c.3739dup (p.Glu1247fs) duplication Pathogenic rs1554080460 5:149776033-149776033 5:150396470-150396470
6 FGFR2 NM_000141.4(FGFR2): c.314A> G (p.Tyr105Cys) single nucleotide variant Pathogenic rs1434545235 10:123325014-123325014 10:121565500-121565500
7 FGFR2 NM_000141.4(FGFR2): c.1150G> A (p.Gly384Arg) single nucleotide variant Pathogenic rs1554927408 10:123274768-123274768 10:121515254-121515254
8 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 10:123276892-123276892 10:121517378-121517378
9 FGFR2 NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His) single nucleotide variant Pathogenic rs121918489 10:123276899-123276899 10:121517385-121517385
10 FGFR2 NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys) single nucleotide variant Pathogenic rs121918490 10:123276856-123276856 10:121517342-121517342
11 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 10:123276893-123276893 10:121517379-121517379
12 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 10:123276893-123276893 10:121517379-121517379
13 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 10:123276885-123276885 10:121517371-121517371
14 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 10:123276886-123276886 10:121517372-121517372
15 FGFR2 NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs121918493 10:123276934-123276934 10:121517420-121517420
16 FGFR2 NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp) single nucleotide variant Pathogenic rs121918496 10:123276891-123276891 10:121517377-121517377
17 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 10:123279566-123279566 10:121520052-121520052
18 FGFR2 NM_000141.4(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 10:123279677-123279677 10:121520163-121520163
19 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 10:123279674-123279674 10:121520160-121520160
20 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 10:123274794-123274794 10:121515280-121515280
21 FGFR2 NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu) single nucleotide variant Pathogenic rs121918500 10:123279558-123279558 10:121520044-121520044
22 FGFR2 NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg) single nucleotide variant Pathogenic rs121918501 10:123279564-123279564 10:121520050-121520050
23 FGFR2 NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly) single nucleotide variant Pathogenic rs121918501 10:123279564-123279564 10:121520050-121520050
24 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 10:123279633-123279633 10:121520119-121520119
25 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 10:123258105-123258105 10:121498591-121498591
26 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 10:123276830-123276830 10:121517316-121517316
27 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 4:1803571-1803571 4:1801844-1801844
28 FGFR2 NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs387906676 10:123276908-123276908 10:121517394-121517394
29 FGFR2 NM_000141.4(FGFR2): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic/Likely pathogenic rs1057519044 10:123276904-123276904 10:121517390-121517390
30 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 10:123276877-123276877 10:121517363-121517363
31 FGFR2 NM_000141.4(FGFR2): c.826T> G (p.Phe276Val) single nucleotide variant Pathogenic/Likely pathogenic rs1057519036 10:123279606-123279606 10:121520092-121520092
32 FGFR2 NM_000141.4(FGFR2): c.842A> G (p.Tyr281Cys) single nucleotide variant Likely pathogenic rs1057519038 10:123279590-123279590 10:121520076-121520076
33 FGFR2 NM_000141.4(FGFR2): c.1645A> C (p.Asn549His) single nucleotide variant Likely pathogenic rs1057519045 10:123258036-123258036 10:121498522-121498522
34 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 10:123237969-123237969 10:121478455-121478455
35 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 10:123238002-123238002 10:121478488-121478488
36 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 10:123353459-123353459 10:121593945-121593945
37 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 10:123357860-123357860 10:121598346-121598346
38 FGFR2 NM_000141.4(FGFR2): c.*1126T> C single nucleotide variant Uncertain significance rs370106008 10:123238245-123238245 10:121478731-121478731
39 FGFR2 NM_000141.4(FGFR2): c.*736dup duplication Uncertain significance rs886046762 10:123238635-123238635 10:121479121-121479121
40 FGFR2 NM_000141.4(FGFR2): c.1562-11A> G single nucleotide variant Uncertain significance rs41293744 10:123258130-123258130 10:121498616-121498616
41 FGFR2 NM_000141.4(FGFR2): c.1539C> A (p.Thr513=) single nucleotide variant Uncertain significance rs74160617 10:123260362-123260362 10:121500848-121500848
42 FGFR2 NM_000141.4(FGFR2): c.1179A> T (p.Val393=) single nucleotide variant Uncertain significance rs886046763 10:123274739-123274739 10:121515225-121515225
43 FGFR2 NM_000141.4(FGFR2): c.351T> C (p.Thr117=) single nucleotide variant Uncertain significance rs886046764 10:123324977-123324977 10:121565463-121565463
44 FGFR2 NM_000141.4(FGFR2): c.*1489C> T single nucleotide variant Uncertain significance rs886046757 10:123237882-123237882 10:121478368-121478368
45 FGFR2 NM_000141.4(FGFR2): c.*674G> T single nucleotide variant Uncertain significance rs566155088 10:123238697-123238697 10:121479183-121479183
46 FGFR2 NM_000141.4(FGFR2): c.*497T> C single nucleotide variant Uncertain significance rs3135827 10:123238874-123238874 10:121479360-121479360
47 FGFR2 NM_000141.4(FGFR2): c.-622G> A single nucleotide variant Uncertain significance rs886046768 10:123357947-123357947 10:121598433-121598433
48 FGFR2 NM_000141.4(FGFR2): c.*1287A> C single nucleotide variant Uncertain significance rs886046760 10:123238084-123238084 10:121478570-121478570
49 FGFR2 NM_000141.4(FGFR2): c.*1070T> C single nucleotide variant Uncertain significance rs886046761 10:123238301-123238301 10:121478787-121478787
50 FGFR2 NM_000141.4(FGFR2): c.-165G> A single nucleotide variant Uncertain significance rs886046766 10:123357490-123357490 10:121597976-121597976

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

74 (show all 36)
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Tyr105Cys VAR_004112 rs143454523
2 FGFR2 p.Ser267Pro VAR_004118 rs121918505
3 FGFR2 p.Phe276Val VAR_004120 rs105751903
4 FGFR2 p.Cys278Phe VAR_004121 rs776587763
5 FGFR2 p.Gln289Pro VAR_004123 rs121918497
6 FGFR2 p.Trp290Arg VAR_004125 rs121918501
7 FGFR2 p.Lys292Glu VAR_004126 rs121918500
8 FGFR2 p.Tyr301Cys VAR_004127 rs155493068
9 FGFR2 p.Tyr328Cys VAR_004130 rs121918493
10 FGFR2 p.Asn331Ile VAR_004131
11 FGFR2 p.Gly338Glu VAR_004133 rs105751904
12 FGFR2 p.Tyr340His VAR_004134 rs121918489
13 FGFR2 p.Thr341Pro VAR_004135 rs121918495
14 FGFR2 p.Cys342Phe VAR_004136 rs121918487
15 FGFR2 p.Cys342Arg VAR_004137 rs121918488
16 FGFR2 p.Cys342Ser VAR_004138 rs121918488
17 FGFR2 p.Cys342Tyr VAR_004139 rs121918487
18 FGFR2 p.Ala344Gly VAR_004140 rs121918492
19 FGFR2 p.Ala344Pro VAR_004141
20 FGFR2 p.Ser347Cys VAR_004142 rs121918494
21 FGFR2 p.Ser351Cys VAR_004143 rs121918502
22 FGFR2 p.Ser354Cys VAR_004144 rs121918490
23 FGFR2 p.Val359Phe VAR_004146
24 FGFR2 p.Gly384Arg VAR_004147 rs155492740
25 FGFR2 p.Gly338Arg VAR_015011 rs105751904
26 FGFR2 p.Pro263Leu VAR_017261 rs779326224
27 FGFR2 p.Cys278Tyr VAR_017263 rs776587763
28 FGFR2 p.Tyr281Cys VAR_017264 rs105751903
29 FGFR2 p.Ile288Ser VAR_017265
30 FGFR2 p.Trp290Gly VAR_017266 rs121918501
31 FGFR2 p.Ala337Pro VAR_017268 rs387906676
32 FGFR2 p.Cys342Trp VAR_017271 rs121918496
33 FGFR2 p.Ser354Tyr VAR_017272
34 FGFR2 p.Ala362Ser VAR_017273
35 FGFR2 p.Asn549His VAR_017276 rs105751904
36 FGFR2 p.Arg678Gly VAR_017281

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 top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 TGFBR3 TGFB1 IL11RA FGFR3 FGFR2 FGFR1
2
Show member pathways
13.67 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
3
Show member pathways
13.51 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
4
Show member pathways
13.48 TGFBR3 TGFB1 IL11RA FGFR3 FGFR2 FGFR1
5
Show member pathways
13.38 TGFB1 IL11RA FGFR3 FGFR2 FGFR1 FGF2
6
Show member pathways
13.3 TGFB1 IL11RA FGFR3 FGFR2 FGFR1 FGF2
7
Show member pathways
13.27 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
8
Show member pathways
13.22 TGFB1 RPS6KB2 FGFR3 FGFR2 FGFR1 FGF2
9
Show member pathways
13.15 TGFBR3 TGFB1 IL11RA FGFR3 FGFR2 FGFR1
10
Show member pathways
12.97 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
11
Show member pathways
12.94 RPS6KB2 FGFR3 FGFR2 FGFR1 FGF2
12
Show member pathways
12.94 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
13
Show member pathways
12.83 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1
14 12.82 TGFB1 RPS6KB2 FGFR3 FGFR2 FGFR1 FGF2
15 12.74 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
16
Show member pathways
12.74 TGFB1 RPS6KB2 FGFR2 FGFR1 FGF2
17
Show member pathways
12.71 RPS6KB2 FGFR3 FGFR2 FGFR1 FGF2
18
Show member pathways
12.68 RPS6KB2 FGFR3 FGFR2 FGFR1 FGF2
19
Show member pathways
12.66 FGFR3 FGFR2 FGFR1 FGF2
20 12.61 FGFR3 FGFR2 FGFR1 FGF2 FGF13
21
Show member pathways
12.53 FGFR3 FGFR2 FGFR1 FGF2
22
Show member pathways
12.53 TGFB1 FGFR3 FGFR2 FGFR1 FGF2 FGF13
23
Show member pathways
12.47 RPS6KB2 FGFR3 FGFR2 FGFR1
24
Show member pathways
12.44 FGFR3 FGFR2 FGFR1 FGF2 FGF13
25
Show member pathways
12.42 TGFBR3 FGFR3 FGFR2 FGFR1
26
Show member pathways
12.39 FGFR3 FGFR2 FGFR1 FGF2
27
Show member pathways
12.38 FGFR3 FGFR2 FGFR1 FGF2 FGF13
28
Show member pathways
12.34 TGFB1 FGFR3 FGFR2 FGFR1 FGF2 FGF13
29 12.28 TGFB1 RPS6KB2 FGFR1 FGF2 DCN
30
Show member pathways
12.26 FGFR3 FGFR2 FGFR1 FGF2
31
Show member pathways
12.22 FGFR3 FGFR2 FGFR1 FGF2
32
Show member pathways
12.2 RPS6KB2 IL11RA FGFR3 FGFR2 FGFR1
33
Show member pathways
12.15 FGFR3 FGFR2 FGFR1 FGF2
34 12.12 FGFR3 FGFR2 FGFR1 FGF2
35 12.11 RPS6KB2 IL11RA FGFR3 FGFR2 FGFR1
36
Show member pathways
12.1 TGFB1 FGFR2 FGF2
37 12.09 FGFR3 FGFR2 FGFR1 FGF2
38 12.01 TGFB1 FGF2 FGF13
39
Show member pathways
11.88 TGFB1 FGFR3 FGFR2 FGFR1 FGF2 FGF13
40 11.87 TGFB1 RPS6KB2 DCN BMP6
41 11.81 MSX2 FGFR3 FGFR2 FGFR1 FGF2
42 11.77 FGFR3 FGFR1 FGF2
43 11.7 FGFR3 FGFR2 FGFR1
44 11.53 TGFBR3 TGFB1 FGFR1 FGF2
45 11.49 FGFR3 FGFR2 FGFR1
46 11.47 TGFB1 FGFR3 FGFR1 FGF2 BMP6
47 11.44 FGFR3 FGFR2 FGFR1 FGF2
48
Show member pathways
11.43 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
49 11.39 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1
50 11.39 TGFB1 FGFR3 FGFR2 FGFR1 FGF2 FGF13

GO Terms for Crouzon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 TGFBR3 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
2 extracellular matrix GO:0031012 9.33 TGFBR3 TGFB1 DCN
3 receptor complex GO:0043235 9.02 TGFBR3 IL11RA FGFR3 FGFR2 FGFR1

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.95 TGFB1 MSX2 BMP6 ALX3
2 positive regulation of cell proliferation GO:0008284 9.87 TGFB1 IL11RA FGFR3 FGFR2 FGFR1 FGF2
3 positive regulation of MAPK cascade GO:0043410 9.86 FGFR3 FGFR2 FGFR1
4 animal organ morphogenesis GO:0009887 9.86 FGFR2 FGF2 DCN
5 skeletal system development GO:0001501 9.86 TCOF1 FGFR3 FGFR1 BMP6
6 BMP signaling pathway GO:0030509 9.84 TGFBR3 MSX2 BMP6
7 cell differentiation GO:0030154 9.82 FGF2 ERF BMP6
8 negative regulation of epithelial cell proliferation GO:0050680 9.81 TGFBR3 TGFB1 FGFR2
9 positive regulation of MAP kinase activity GO:0043406 9.81 TGFB1 FGFR1 FGF2
10 positive regulation of epithelial cell proliferation GO:0050679 9.8 TGFB1 FGFR2 BMP6
11 positive regulation of protein kinase B signaling GO:0051897 9.8 TGFB1 FGFR3 FGFR2 FGFR1 FGF2
12 positive regulation of blood vessel endothelial cell migration GO:0043536 9.79 TGFB1 FGFR1 FGF2
13 peptidyl-tyrosine phosphorylation GO:0018108 9.79 FGFR3 FGFR2 FGFR1
14 positive regulation of cell division GO:0051781 9.78 TGFB1 FGFR2 FGF2
15 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.76 TGFB1 FGFR3 FGFR2 FGF2
16 ureteric bud development GO:0001657 9.75 TGFB1 FGFR2 FGFR1
17 chondrocyte differentiation GO:0002062 9.74 TGFB1 FGFR3 FGFR1
18 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGFR3 FGFR2 FGFR1 FGF2
19 epithelial to mesenchymal transition GO:0001837 9.72 TGFBR3 TGFB1 FGFR2
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FGFR2 FGFR1
21 bone morphogenesis GO:0060349 9.7 MSX2 FGFR3 FGFR2
22 endochondral ossification GO:0001958 9.69 FGFR3 BMP6
23 positive regulation of vascular endothelial cell proliferation GO:1905564 9.69 FGFR1 FGF2
24 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.69 TGFB1 FGFR3 FGF2
25 hyaluronan catabolic process GO:0030214 9.68 TGFB1 FGF2
26 positive regulation of phospholipase C activity GO:0010863 9.68 FGFR1 FGF2
27 pathway-restricted SMAD protein phosphorylation GO:0060389 9.68 TGFBR3 TGFB1
28 positive regulation of SMAD protein signal transduction GO:0060391 9.67 TGFB1 BMP6
29 branching involved in salivary gland morphogenesis GO:0060445 9.67 FGFR2 FGFR1
30 salivary gland morphogenesis GO:0007435 9.66 TGFB1 FGFR1
31 mesenchymal cell differentiation GO:0048762 9.65 FGFR2 FGFR1
32 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.65 TGFBR3 TGFB1 FGFR2
33 lung-associated mesenchyme development GO:0060484 9.64 FGFR2 FGFR1
34 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.6 FGFR1 FGF2
35 orbitofrontal cortex development GO:0021769 9.59 FGFR2 FGFR1
36 frontal suture morphogenesis GO:0060364 9.58 TGFB1 MSX2
37 ventricular zone neuroblast division GO:0021847 9.54 FGFR2 FGFR1
38 positive regulation of phospholipase activity GO:0010518 9.54 FGFR3 FGFR2 FGFR1
39 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.49 FGFR2 FGFR1
40 positive regulation of cardiac muscle cell proliferation GO:0060045 9.46 TGFBR3 FGFR2 FGFR1 FGF2
41 endochondral bone growth GO:0003416 9.43 MSX2 FGFR3 FGFR2
42 wound healing GO:0042060 9.35 TGFB1 MSX2 FGFR2 FGF2 DCN
43 MAPK cascade GO:0000165 9.1 TGFB1 FGFR3 FGFR2 FGFR1 FGF2 FGF13
44 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 TGFB1 MSX2 FGFR2 FGFR1 ERF BMP6
45 protein phosphorylation GO:0006468 10.07 TGFB1 RPS6KB2 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.62 TGFB1 FGF2 FGF13 BMP6
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.61 FGFR3 FGFR2 FGFR1
3 heparin binding GO:0008201 9.56 TGFBR3 FGFR2 FGFR1 FGF2
4 protein tyrosine kinase activity GO:0004713 9.54 FGFR3 FGFR2 FGFR1
5 type II transforming growth factor beta receptor binding GO:0005114 9.48 TGFBR3 TGFB1
6 receptor-receptor interaction GO:0090722 9.4 FGFR1 FGF2
7 transforming growth factor beta receptor binding GO:0005160 9.33 TGFBR3 TGFB1 BMP6
8 transmembrane signaling receptor activity GO:0004888 9.16 IL11RA
9 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR3 FGFR2 FGFR1
10 fibroblast growth factor binding GO:0017134 8.92 TGFBR3 FGFR3 FGFR2 FGFR1

Sources for Crouzon Syndrome

3 CDC
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10 dbSNP
11 DGIdb
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30 HGMD
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