APRS
MCID: APR006
MIFTS: 69

Apert Syndrome (APRS)

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

Aliases & Classifications for Apert Syndrome

MalaCards integrated aliases for Apert Syndrome:

Name: Apert Syndrome 58 12 77 54 26 60 76 38 13 56 41
Acrocephalosyndactylia 12 45 15
Acs1 58 60 76
Acrocephalosyndactyly Type 1 60 76
Acrocephalosyndactyly Type I 30 6
Apert-Crouzon Disease 54 74
Acs I 58 76
Acrocephalosyndactyly, Type I; Acs1 58
Acrocephalosyndactyly, Type I 58
Acrocephalo-Syndactyly Type 1 54
Syndactylic Oxycephaly 54
Acrocephalosyndactyly 26
Acs 1 54
Aprs 76

Characteristics:

Orphanet epidemiological data:

60
apert syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Spain),1-9/100000 (United States),1-9/100000 (Canada); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
de novo mutation in some cases


HPO:

33
apert syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Apert Syndrome

NIH Rare Diseases : 54 Apert syndrome is characterized by fusion of the skull bones too early during development (craniosynostosis) and webbing of fingers and toes (syndactyly). Other signs and symptoms may include distinctive facial features, some of which may lead to dental and vision problems. People with Apert syndrome may also have mild to moderate intellectual disability.  Apert syndrome is caused by a change (mutation) in the FGFR2 gene. It is inherited in an autosomal dominant manner, but many cases result from a new mutation in a person with no family history of the disorder (a de novo mutation). Treatment options depend on the symptoms in each person and may include surgery to separate the skull bones and relieve the pressure on the brain. The long-term outlook for a person with Apert syndrome can be improved with prompt diagnosis and medical attention.

MalaCards based summary : Apert Syndrome, also known as acrocephalosyndactylia, is related to chromosome 2q35 duplication syndrome and saethre-chotzen syndrome. An important gene associated with Apert Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. The drugs Clopidogrel and Ticagrelor have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and kidney, and related phenotypes are frontal bossing and finger syndactyly

Disease Ontology : 12 A synostosis that results in craniosynostosis and syndactyly.

Genetics Home Reference : 26 Apert 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. In addition, a varied number of fingers and toes are fused together (syndactyly).

OMIM : 58 Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Most cases are sporadic, but autosomal dominant inheritance has been reported (Mantilla-Capacho et al., 2005). Cohen (1973) provided a review of all the 'craniosynostosis syndromes.' (101200)

UniProtKB/Swiss-Prot : 76 Apert syndrome: A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations.

Wikipedia : 77 Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations... more...

Related Diseases for Apert Syndrome

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

(show top 50) (show all 179)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 32.0 FGFR2 FGFR3 GLI3
2 saethre-chotzen syndrome 30.8 FGFR1 FGFR2 FGFR3 TWIST1
3 crouzon syndrome 29.9 FGF2 FGFR1 FGFR2 FGFR3
4 jackson-weiss syndrome 29.9 FGFR1 FGFR2 FGFR3
5 diaphragmatic hernia, congenital 29.8 FGF10 FGF7 GLI3
6 achondroplasia 29.7 FGFR1 FGFR2 FGFR3
7 cleft palate, isolated 29.5 FGFR1 FGFR2 TWIST1
8 strabismus 29.3 FGFR2 FGFR3 TWIST1
9 tooth agenesis 29.3 FGF10 FGFR1 FGFR2 GLI3
10 plagiocephaly 29.0 FGFR1 FGFR2 FGFR3 TWIST1
11 craniosynostosis 28.9 FGF10 FGF2 FGF9 FGFR1 FGFR2 FGFR3
12 synostosis 28.5 FGFR1 FGFR2 FGFR3 GLI3 RAB23 TWIST1
13 pfeiffer syndrome 28.4 FGF10 FGF7 FGFR1 FGFR2 FGFR3 TWIST1
14 maroteaux fonfria syndrome 11.6
15 robinow-sorauf syndrome 11.2
16 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.1
17 acrocephalopolysyndactyly type iii 11.1
18 greig cephalopolysyndactyly syndrome 11.1
19 carpenter syndrome 1 11.1
20 aplasia cutis congenita, nonsyndromic 10.3
21 acanthoma 10.3 FGF10 FGFR2
22 fgfr-related craniosynostosis syndromes 10.3
23 hemifacial hyperplasia 10.2 FGFR2 FGFR3
24 pleuropulmonary blastoma 10.2 FGF10 FGF9
25 luteoma 10.2 FGFR2 FGFR3
26 polydactyly 10.2
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
28 endometrial cancer 10.1
29 clear cell acanthoma 10.1 FGF10 FGF7 FGFR2
30 bestrophinopathy, autosomal recessive 10.1
31 hypertropia 10.1 FGFR2 FGFR3
32 bladder cancer 10.1
33 blood group, junior system 10.1
34 fibrolamellar carcinoma 10.1 FGFR1 FGFR2
35 clivus chordoma 10.0 FGF2 FGFR1
36 arteries, anomalies of 10.0
37 microvascular complications of diabetes 3 10.0
38 coronary artery anomaly 10.0
39 neurofibromatosis, type ii 10.0
40 sleep apnea 10.0
41 omphalocele 10.0
42 polyhydramnios 10.0
43 intracranial hypertension 10.0
44 antley-bixler syndrome 10.0 FGFR1 FGFR2
45 anus, imperforate 10.0
46 ascites, chylous 10.0
47 renal tubular dysgenesis 10.0
48 dextrocardia 10.0
49 penis agenesis 10.0
50 myocardial infarction 10.0

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



Diseases related to Apert Syndrome

Symptoms & Phenotypes for Apert Syndrome

Human phenotypes related to Apert Syndrome:

60 33 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
3 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
4 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
5 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
6 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
7 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
8 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
9 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
10 brachyturricephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000244
11 acrobrachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0004487
12 short neck 33 hallmark (90%) HP:0000470
13 obesity 33 hallmark (90%) HP:0001513
14 hepatomegaly 33 hallmark (90%) HP:0002240
15 thickened nuchal skin fold 33 hallmark (90%) HP:0000474
16 multicystic kidney dysplasia 33 hallmark (90%) HP:0000003
17 biliary tract abnormality 33 hallmark (90%) HP:0001080
18 turricephaly 33 hallmark (90%) HP:0000262
19 thickened skin 33 hallmark (90%) HP:0001072
20 craniosynostosis 33 hallmark (90%) HP:0001363
21 omphalocele 33 hallmark (90%) HP:0001539
22 pulmonary hypoplasia 33 hallmark (90%) HP:0002089
23 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
24 agenesis of corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0001274
25 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
26 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
27 narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0000189
28 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
29 broad thumb 60 33 frequent (33%) Frequent (79-30%) HP:0011304
30 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
31 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
32 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
33 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
34 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
35 convex nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000444
36 large fontanelles 60 33 frequent (33%) Frequent (79-30%) HP:0000239
37 absent septum pellucidum 60 33 frequent (33%) Frequent (79-30%) HP:0001331
38 facial asymmetry 60 33 frequent (33%) Frequent (79-30%) HP:0000324
39 aplasia/hypoplasia of the thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009601
40 morphological abnormality of the semicircular canal 60 33 frequent (33%) Frequent (79-30%) HP:0011380
41 abnormality of the spleen 33 frequent (33%) HP:0001743
42 cervical c5/c6 vertebrae fusion 33 frequent (33%) HP:0004635
43 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
44 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
45 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
46 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
47 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
48 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
49 cloverleaf skull 60 33 occasional (7.5%) Occasional (29-5%) HP:0002676
50 micromelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002983

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
proptosis
shallow orbits
downslanting palpebral fissures

Head And Neck Head:
megalencephaly
acrobrachycephaly
turribrachycephaly
large fontanel
late-closing fontanel

Head And Neck Ears:
chronic otitis media
hearing loss
abnormal semicircular canals

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect

Abdomen Gastrointestinal:
pyloric stenosis
esophageal atresia
ectopic anus

Genitourinary Internal Genitalia Female:
vaginal atresia

Growth Weight:
normal birth weight
normal birth length

Respiratory Airways:
anomalous tracheal cartilage

Skeletal Spine:
cervical vertebrae fusion, usually at c5 to c6

Skeletal Hands:
symmetric osseous and/or cutaneous syndactyly of hands
broad distal phalanx of thumb
polydactyly, preaxial (rare)
polydactyly, postaxial (rare)

Skin Nails Hair Skin:
moderate to severe acne

Neurologic Central Nervous System:
hydrocephalus
ventriculomegaly
absent septum pellucidum
variable mental retardation
agenesis of the corpus callosum
more
Head And Neck Mouth:
narrow palate
cleft palate
bifid uvula

Head And Neck Nose:
depressed nasal bridge
strabismus
choanal stenosis or atresia

Head And Neck Face:
flat face
midface hypoplasia
high, broad forehead
mandibular prognathism

Cardiovascular Vascular:
overriding aorta

Genitourinary Kidneys:
hydronephrosis

Growth Height:
deceleration of linear growth during childhood

Head And Neck Teeth:
malocclusion
delayed dental eruption

Skeletal Skull:
craniosynostosis (coronal)
jugular foraminal stenosis

Skeletal Limbs:
synostosis of radius and humerus
fusion of carpal bones, especially capitate and hamate

Skeletal Feet:
polydactyly, preaxial (rare)
polydactyly, postaxial (rare)
symmetric osseous and/or cutaneous syndactyly of feet
broad distal hallux

Skin Nails Hair Nails:
single nail common to digits 2 to 4

Clinical features from OMIM:

101200

MGI Mouse Phenotypes related to Apert Syndrome:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.19 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
2 cardiovascular system MP:0005385 10.18 FGF10 FGF2 FGF9 FGFR1 FGFR2 GLI3
3 growth/size/body region MP:0005378 10.18 FGF10 FGF7 FGF9 FGFR1 FGFR2 FGFR3
4 cellular MP:0005384 10.17 FGF10 FGF2 FGF9 FGFR1 FGFR2 FGFR3
5 homeostasis/metabolism MP:0005376 10.15 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
6 embryo MP:0005380 10.14 FGF10 FGF9 FGFR1 FGFR2 GLI3 RAB23
7 mortality/aging MP:0010768 10.13 FGF10 FGF2 FGF9 FGFR1 FGFR2 FGFR3
8 limbs/digits/tail MP:0005371 10.11 FGF10 FGF9 FGFR1 FGFR2 FGFR3 GLI3
9 craniofacial MP:0005382 10.1 FGF10 FGF9 FGFR1 FGFR2 FGFR3 GLI3
10 digestive/alimentary MP:0005381 10.09 FGF10 FGF9 FGFR1 FGFR2 FGFR3 GLI3
11 integument MP:0010771 10.08 FGF10 FGF7 FGF9 FGFR1 FGFR2 FGFR3
12 hearing/vestibular/ear MP:0005377 10.05 FGF10 FGF2 FGF9 FGFR1 FGFR2 FGFR3
13 nervous system MP:0003631 10.02 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
14 muscle MP:0005369 9.95 FGF10 FGF2 FGF9 FGFR1 FGFR2 TBX5
15 normal MP:0002873 9.87 FGF10 FGF9 FGFR1 FGFR2 FGFR3 GLI3
16 renal/urinary system MP:0005367 9.8 FGF10 FGF7 FGF9 FGFR1 FGFR2 FGFR3
17 reproductive system MP:0005389 9.76 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
18 skeleton MP:0005390 9.7 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
19 vision/eye MP:0005391 9.28 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2

Drugs & Therapeutics for Apert Syndrome

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
2
Ticagrelor Approved Phase 3,Phase 2 274693-27-5 9871419
3 Purinergic P2Y Receptor Antagonists Phase 3,Phase 2
4 Neurotransmitter Agents Phase 3,Phase 2
5 Platelet Aggregation Inhibitors Phase 3,Phase 2
6 Purinergic P2 Receptor Antagonists Phase 3,Phase 2
7
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
8
Rivaroxaban Approved Phase 2 366789-02-8
9
Heparin Approved, Investigational Phase 2 9005-49-6 46507594 772
10
Eptifibatide Approved, Investigational Phase 2 188627-80-7 123610
11
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
12
Calcium Approved, Nutraceutical Phase 2,Not Applicable 7440-70-2 271
13
Otamixaban Investigational Phase 2 193153-04-7
14 Antipyretics Phase 2
15
protease inhibitors Phase 2
16 Analgesics, Non-Narcotic Phase 2
17 Anti-Inflammatory Agents Phase 2
18 Peripheral Nervous System Agents Phase 2
19 Factor Xa Inhibitors Phase 2
20 Cyclooxygenase Inhibitors Phase 2
21 Antirheumatic Agents Phase 2
22 Analgesics Phase 2
23 Fibrinolytic Agents Phase 2
24 HIV Protease Inhibitors Phase 2
25 Antithrombin III Phase 2
26 Serine Proteinase Inhibitors Phase 2
27 Anticoagulants Phase 2
28 Anti-Inflammatory Agents, Non-Steroidal Phase 2
29 Antithrombins Phase 2
30 Calcium, Dietary Phase 2,Not Applicable
31 calcium heparin Phase 2
32
Azilsartan medoxomil Approved, Investigational Not Applicable 863031-21-4
33
Angiotensin II Approved, Investigational Not Applicable 11128-99-7, 68521-88-0, 4474-91-3 172198
34
Amlodipine Approved Not Applicable 88150-42-9 2162
35 Angiotensin Receptor Antagonists Not Applicable
36 Antihypertensive Agents Not Applicable
37 Angiotensinogen Not Applicable
38 Giapreza Not Applicable
39 Hormones Not Applicable
40 Angiotensin II Type 1 Receptor Blockers Not Applicable
41 Vasodilator Agents Not Applicable
42 calcium channel blockers Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Low-Dose Ticagrelor in Chinese Patients With NSTE-ACS Unknown status NCT02415803 Phase 3 low-dose ticagrelor;conventional-dose ticagrelor;Clopidogrel
2 Feasibility Assessment of ACS Catheter Withdrawn NCT01960517 Phase 2, Phase 3
3 PCI and Renal Denervation in Hypertensive Patients With Acute Coronary Syndromes Unknown status NCT02272920 Phase 2
4 A Study to Compare the Safety of Rivaroxaban Versus Acetylsalicylic Acid in Addition to Either Clopidogrel or Ticagrelor Therapy in Participants With Acute Coronary Syndrome Completed NCT02293395 Phase 2 Acetylsalicylic acid;Rivaroxaban;Clopidogrel;Ticagrelor
5 Study of Otamixaban Versus Unfractionated Heparin (UFH) and Eptifibatide in Non-ST Elevation Acute Coronary Syndrome Completed NCT00317395 Phase 2 Otamixaban (XRP0673);unfractionated heparin;eptifibatide
6 European Quality Improvement Programme for Acute Coronary Syndromes Unknown status NCT00716430 Not Applicable
7 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
8 Azilsartan Circadian and Sleep Pressure Completed NCT01762501 Not Applicable Azilsartan;Amlodipine
9 Dairy Products and Metabolic Effects (Norwegian Part) Completed NCT00140816 Not Applicable

Search NIH Clinical Center for Apert Syndrome

Cochrane evidence based reviews: acrocephalosyndactylia

Genetic Tests for Apert Syndrome

Genetic tests related to Apert Syndrome:

# Genetic test Affiliating Genes
1 Acrocephalosyndactyly Type I 30 FGFR2

Anatomical Context for Apert Syndrome

MalaCards organs/tissues related to Apert Syndrome:

42
Bone, Brain, Kidney, Prostate, Heart, Skin, Eye

Publications for Apert Syndrome

Articles related to Apert Syndrome:

(show top 50) (show all 357)
# Title Authors Year
1
Apert syndrome without craniosynostosis. ( 30643948 )
2019
2
Variable phenotypic expression of Apert syndrome in monozygotic twins. ( 30656008 )
2019
3
Clinical and genetic findings of two cases with Apert syndrome. ( 30657466 )
2019
4
Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis. ( 30661112 )
2019
5
Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature. ( 30672749 )
2019
6
Long-Term Functional Upper-Extremity Outcomes in Adults with Apert Syndrome. ( 30676503 )
2019
7
The turricephaly index: A validated method for recording turricephaly and its natural history in Apert syndrome. ( 30683622 )
2019
8
Mandibular Spatial Reorientation and Morphological Alteration of Crouzon and Apert Syndrome. ( 31008788 )
2019
9
Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis. ( 31044122 )
2019
10
Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies. ( 29198073 )
2018
11
Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review. ( 29441430 )
2018
12
A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection? ( 29476210 )
2018
13
The Role of Bipartition Distraction in the Treatment of Apert Syndrome. ( 29481405 )
2018
14
A 37-year-old Nigerian woman with Apert syndrome - medical and psychosocial perspectives: a case report. ( 29753329 )
2018
15
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report. ( 29868125 )
2018
16
Founding of the Brazilian Association of Apert Syndrome. ( 29944569 )
2018
17
Fetal brain MRI in Apert syndrome: early in vivo detection of temporal lobe malformation. ( 29955939 )
2018
18
Apert syndrome: Be aware of the 'dodgy' hip! ( 29973408 )
2018
19
Research advances in Apert syndrome. ( 30191107 )
2018
20
Maldevelopment of the submandibular gland in a mouse model of apert syndrome. ( 30251381 )
2018
21
Adeno-Associated Virus-Mediated RNAi against Mutant Alleles Attenuates Abnormal Calvarial Phenotypes in an Apert Syndrome Mouse Model. ( 30321816 )
2018
22
Anterior convex lateral orbital wall: distinctive morphology in Apert syndrome. ( 30337164 )
2018
23
Temporal Evaluation of Craniofacial Relationships in Apert Syndrome. ( 30358751 )
2018
24
Normal angulation of skull base in Apert syndrome. ( 30391086 )
2018
25
Oral surgical and anesthetic management of a patient with Apert syndrome in an outpatient setting. ( 30500726 )
2018
26
Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients. ( 30550448 )
2018
27
Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. ( 30591916 )
2018
28
Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants. ( 27534905 )
2017
29
Apert syndrome: A consensus on the management of Apert hands. ( 28087285 )
2017
30
Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome. ( 28123344 )
2017
31
Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report. ( 28316926 )
2017
32
Surgical strategy for Apert syndrome: Retrospective study of developmental quotient and three-dimensional computerized tomography. ( 28338248 )
2017
33
Apert syndrome - clinical case. ( 28523332 )
2017
34
Prenatal diagnosis of a sporadic Apert syndrome by 3-D ultrasound and 3-D helical computerized tomography. ( 28805624 )
2017
35
Apert Syndrome: Report of a rare congenital malformation. ( 28811814 )
2017
36
Dental approach for Apert syndrome in children: a systematic review. ( 29053644 )
2017
37
Two patients with Apert syndrome with different mutations: the importance of early diagnosis. ( 29483804 )
2017
38
Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn. ( 29668474 )
2017
39
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome. ( 30035392 )
2017
40
Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome. ( 27339175 )
2016
41
Apert syndrome: Surgical outcomes and perspectives. ( 27378001 )
2016
42
Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol. ( 27380568 )
2016
43
Extensive acne in Apert syndrome. ( 27428282 )
2016
44
Apert syndrome: A case report and review of the literature. ( 28058401 )
2016
45
Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome. ( 28098935 )
2016
46
Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome. ( 26365357 )
2016
47
Management of the Airway in Apert Syndrome. ( 26674912 )
2016
48
Central nervous system and cervical spine abnormalities in Apert syndrome. ( 26861132 )
2016
49
Mandibular asymmetry in patients with the crouzon or apert syndrome. ( 24878346 )
2015
50
Application of C-Shaped Osteotomy and Distraction Osteogenesis for Correction of Radial Angulation Deformities of the Hand in Children With Apert Syndrome: Review of 10 Years of Experience. ( 25275478 )
2015

Variations for Apert Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Ser252Phe VAR_004114 rs121918498
2 FGFR2 p.Ser252Trp VAR_004115 rs79184941
3 FGFR2 p.Pro253Arg VAR_004117 rs77543610

ClinVar genetic disease variations for Apert Syndrome:

6 (show top 50) (show all 147)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh38 Chromosome 10, 121598129: 121598129
2 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh37 Chromosome 10, 123357860: 123357860
3 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh38 Chromosome 10, 121598346: 121598346
4 FGFR2 NM_000141.4(FGFR2): c.314A> G (p.Tyr105Cys) single nucleotide variant Pathogenic rs1434545235 GRCh38 Chromosome 10, 121565500: 121565500
5 FGFR2 NM_000141.4(FGFR2): c.314A> G (p.Tyr105Cys) single nucleotide variant Pathogenic rs1434545235 GRCh37 Chromosome 10, 123325014: 123325014
6 FGFR2 NM_000141.4(FGFR2): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic/Likely pathogenic rs1057519044 GRCh38 Chromosome 10, 121517390: 121517390
7 FGFR2 NM_000141.4(FGFR2): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic/Likely pathogenic rs1057519044 GRCh37 Chromosome 10, 123276904: 123276904
8 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh37 Chromosome 10, 123357643: 123357643
9 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh37 Chromosome 10, 123357561: 123357561
10 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh38 Chromosome 10, 121598047: 121598047
11 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh37 Chromosome 10, 123353466: 123353466
12 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh38 Chromosome 10, 121593952: 121593952
13 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh37 Chromosome 10, 123353459: 123353459
14 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh38 Chromosome 10, 121593945: 121593945
15 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh37 Chromosome 10, 123256248: 123256248
16 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh38 Chromosome 10, 121496734: 121496734
17 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh38 Chromosome 10, 121479746: 121479746
18 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh37 Chromosome 10, 123239260: 123239260
19 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh38 Chromosome 10, 121479598: 121479598
20 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh37 Chromosome 10, 123239112: 123239112
21 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh38 Chromosome 10, 121479388: 121479388
22 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh37 Chromosome 10, 123238902: 123238902
23 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh38 Chromosome 10, 121478488: 121478488
24 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh37 Chromosome 10, 123238002: 123238002
25 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh37 Chromosome 10, 123237969: 123237969
26 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh38 Chromosome 10, 121478455: 121478455
27 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh37 Chromosome 10, 123237869: 123237873
28 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh38 Chromosome 10, 121478355: 121478359
29 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
30 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
31 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
32 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
33 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
34 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
35 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
36 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
37 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
38 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
39 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
40 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
41 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
42 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
43 FGFR2 NM_000141.4(FGFR2): c.989G> A (p.Arg330Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 121517414: 121517414
44 FGFR2 NM_000141.4(FGFR2): c.989G> A (p.Arg330Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 123276928: 123276928
45 FGFR2 NM_000141.4(FGFR2): c.1150G> A (p.Gly384Arg) single nucleotide variant Pathogenic rs1554927408 GRCh37 Chromosome 10, 123274768: 123274768
46 FGFR2 NM_000141.4(FGFR2): c.1150G> A (p.Gly384Arg) single nucleotide variant Pathogenic rs1554927408 GRCh38 Chromosome 10, 121515254: 121515254
47 FGFR2 NM_000141.4(FGFR2): c.-458C> A single nucleotide variant Likely benign rs41301043 GRCh38 Chromosome 10, 121598269: 121598269
48 FGFR2 NM_000141.4(FGFR2): c.-458C> A single nucleotide variant Likely benign rs41301043 GRCh37 Chromosome 10, 123357783: 123357783
49 FGFR2 NM_000141.4(FGFR2): c.-371C> T single nucleotide variant Uncertain significance rs527570655 GRCh38 Chromosome 10, 121598182: 121598182
50 FGFR2 NM_000141.4(FGFR2): c.-371C> T single nucleotide variant Uncertain significance rs527570655 GRCh37 Chromosome 10, 123357696: 123357696

Copy number variations for Apert Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15742 10 119100000 135374737 Copy number FGFR2 Apert syndrome

Expression for Apert Syndrome

Search GEO for disease gene expression data for Apert Syndrome.

Pathways for Apert Syndrome

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

(show top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
2
Show member pathways
13.61 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
3
Show member pathways
13.61 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
4
Show member pathways
13.46 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
5
Show member pathways
13.43 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.43 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
7
Show member pathways
13.38 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
8
Show member pathways
13.32 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.3 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
10
Show member pathways
13.25 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
11
Show member pathways
13.23 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
12
Show member pathways
13.21 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
13
Show member pathways
13.02 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
14
Show member pathways
13.01 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.95 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
16
Show member pathways
12.83 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
17
Show member pathways
12.75 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
18 12.72 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
19
Show member pathways
12.7 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
20 12.69 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
21
Show member pathways
12.68 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
22
Show member pathways
12.66 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
23
Show member pathways
12.66 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
24 12.57 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
25
Show member pathways
12.39 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.39 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
27
Show member pathways
12.25 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
28
Show member pathways
12.25 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
29
Show member pathways
12.22 FGF2 FGFR1 FGFR2 FGFR3
30
Show member pathways
12.2 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
31 12.19 FGF2 FGFR1 TWIST1
32 12.13 FGF2 FGFR1 FGFR2 FGFR3
33 12.09 FGF2 FGFR1 FGFR2 FGFR3
34
Show member pathways
12.07 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
35 12.06 FGF10 FGF2 FGF7 TBX5
36 12.04 FGFR1 FGFR2 FGFR3
37
Show member pathways
11.99 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
38 11.94 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
39 11.88 FGF2 FGFR1 FGFR2 FGFR3
40
Show member pathways
11.82 FGF2 FGF9 FGFR1
41 11.82 FGF10 FGF2 FGFR1 FGFR3
42 11.73 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
43 11.72 FGF2 FGFR1 FGFR3 GLI3
44
Show member pathways
11.7 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
45 11.67 FGFR1 FGFR2 FGFR3
46
Show member pathways
11.61 FGF2 FGF9 FGFR3
47 11.5 FGFR1 FGFR2 FGFR3
48 11.44 FGF2 FGF7 FGFR1 FGFR2 FGFR3
49 11.21 FGF2 FGFR1
50 11.12 FGF2 FGFR1

GO Terms for Apert Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.17 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
2 receptor complex GO:0043235 9.13 FGFR1 FGFR2 FGFR3

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

(show top 50) (show all 87)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.97 FGFR1 FGFR2 GLI3 TWIST1
2 angiogenesis GO:0001525 9.97 FGF10 FGF2 FGF9 FGFR1 FGFR2
3 cell-cell signaling GO:0007267 9.97 FGF10 FGF9 FGFR2 FGFR3 TBX5
4 regulation of gene expression GO:0010468 9.94 FGF10 FGFR1 GLI3
5 protein autophosphorylation GO:0046777 9.92 FGFR1 FGFR2 FGFR3
6 wound healing GO:0042060 9.91 FGF10 FGF2 FGFR2 GLI3
7 positive regulation of MAPK cascade GO:0043410 9.91 FGF10 FGF9 FGFR1 FGFR2 FGFR3
8 animal organ morphogenesis GO:0009887 9.9 FGF10 FGF2 FGFR2
9 positive regulation of canonical Wnt signaling pathway GO:0090263 9.89 FGF10 FGF9 FGFR2
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.89 FGF10 FGF2 FGFR2 FGFR3
11 cell differentiation GO:0030154 9.88 FGF10 FGF2 FGF9 TWIST1
12 MAPK cascade GO:0000165 9.87 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
13 negative regulation of cell differentiation GO:0045596 9.86 FGF10 GLI3 TWIST1
14 inner ear morphogenesis GO:0042472 9.86 FGF10 FGF9 FGFR1 FGFR2
15 positive regulation of epithelial cell proliferation GO:0050679 9.85 FGF10 FGF7 FGF9 FGFR2 TWIST1
16 positive chemotaxis GO:0050918 9.84 FGF10 FGF2 FGF7
17 chondrocyte differentiation GO:0002062 9.83 FGF9 FGFR1 FGFR3
18 positive regulation of cell division GO:0051781 9.83 FGF2 FGF7 FGF9 FGFR2
19 embryonic limb morphogenesis GO:0030326 9.83 FGF9 FGFR1 GLI3 TBX5 TWIST1
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.8 FGF9 FGFR1 FGFR2
21 hair follicle morphogenesis GO:0031069 9.79 FGF10 FGF7 FGFR2
22 embryonic digestive tract development GO:0048566 9.78 FGF10 FGF9 GLI3
23 embryonic digestive tract morphogenesis GO:0048557 9.77 FGF10 FGFR2 GLI3
24 positive regulation of cardiac muscle cell proliferation GO:0060045 9.77 FGF2 FGF9 FGFR1 FGFR2 TBX5
25 bone mineralization GO:0030282 9.76 FGFR2 FGFR3
26 regulation of cell differentiation GO:0045595 9.76 FGFR1 GLI3
27 positive regulation of Wnt signaling pathway GO:0030177 9.76 FGF10 FGFR2
28 midbrain development GO:0030901 9.76 FGFR1 FGFR2
29 lung alveolus development GO:0048286 9.76 FGF10 FGFR2
30 embryonic cranial skeleton morphogenesis GO:0048701 9.76 FGFR2 TWIST1
31 metanephros development GO:0001656 9.76 FGF10 GLI3
32 bone morphogenesis GO:0060349 9.76 FGFR2 FGFR3
33 digestive tract development GO:0048565 9.75 FGF10 FGFR2
34 odontogenesis GO:0042476 9.75 FGFR2 TWIST1
35 embryonic forelimb morphogenesis GO:0035115 9.75 TBX5 TWIST1
36 embryonic organ development GO:0048568 9.75 FGFR2 GLI3
37 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.75 FGF2 FGFR3
38 blood vessel morphogenesis GO:0048514 9.75 FGF10 FGFR1
39 branching morphogenesis of an epithelial tube GO:0048754 9.74 FGF10 GLI3
40 regulation of smoothened signaling pathway GO:0008589 9.74 FGF10 FGFR2
41 limb morphogenesis GO:0035108 9.74 FGF10 GLI3
42 positive regulation of vascular endothelial cell proliferation GO:1905564 9.74 FGF2 FGFR1
43 embryonic pattern specification GO:0009880 9.74 FGF10 FGFR2
44 protein localization to cell surface GO:0034394 9.74 FGF10 FGF7
45 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.73 FGF10 FGF9
46 embryonic morphogenesis GO:0048598 9.73 FGF2 GLI3
47 positive regulation of phospholipase C activity GO:0010863 9.73 FGF2 FGFR1
48 organ growth GO:0035265 9.73 FGF10 FGFR2
49 lung development GO:0030324 9.73 FGF10 FGF9 FGFR1 FGFR2 GLI3 TBX5
50 positive regulation of keratinocyte migration GO:0051549 9.72 FGF10 FGF7

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.78 FGFR1 FGFR2 FGFR3 RAB23
2 growth factor activity GO:0008083 9.71 FGF10 FGF2 FGF7 FGF9
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 FGFR1 FGFR2 FGFR3
4 chemoattractant activity GO:0042056 9.54 FGF10 FGF2 FGF7
5 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
6 fibroblast growth factor receptor binding GO:0005104 9.46 FGF10 FGF2 FGF7 FGF9
7 receptor-receptor interaction GO:0090722 9.43 FGF2 FGFR1
8 fibroblast growth factor-activated receptor activity GO:0005007 9.43 FGFR1 FGFR2 FGFR3
9 heparin binding GO:0008201 9.43 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
10 protein tyrosine kinase activity GO:0004713 8.8 FGFR1 FGFR2 FGFR3

Sources for Apert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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