MCID: HMF006
MIFTS: 58

Hemifacial Microsomia

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

Aliases & Classifications for Hemifacial Microsomia

MalaCards integrated aliases for Hemifacial Microsomia:

Name: Hemifacial Microsomia 53 12 72 49 55 13
Goldenhar Syndrome 53 12 72 49 55 28 41 14 69
Oculoauriculovertebral Dysplasia 53 49 55
Oav Dysplasia 53 49 55
Oavs 53 49 55
First and Second Branchial Arch Syndrome 12 49
Expanded Spectrum Hemifacial Microsomia 49 55
Oculo-Auriculo-Vertebral Dysplasia 72 49
Oculo-Auriculo-Vertebral Spectrum 72 49
Facioauriculovertebral Dysplasia 49 55
Facioauriculovertebral Sequence 53 49
Oculoauriculovertebral Syndrome 49 55
Otomandibular Dysostosis 12 55
Fav Sequence 53 49
Goldenhar Syndrome with Ipsilateral Radial Defect 69
Expanded Spectrum of Hemifacial Microsomia 49
Oculoauriculovertebral Spectrum; Oavs 53
Facio-Auriculo-Vertebral Spectrum 12
Oculoauriculovertebral Spectrum 53
First Branchial Arch Syndrome 55
Laterofacial Microsomia 55
Otomandibular Syndrome 55
First Arch Syndrome 12
Goldenhar Disease 49
Oav Dysplasia 12
Oavd 49
Hfm 53

Characteristics:

Orphanet epidemiological data:

55
goldenhar syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
most cases are sporadic
discordant phenotype among monozygotic twins has been reported
abnormal morphogenesis of first and second branchial arches
estimated frequence 1/3000 to 1/5000
slight male predominance (3:2)
often unilateral involvement


HPO:

31
hemifacial microsomia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemifacial Microsomia

NIH Rare Diseases : 49 Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the first and second brachial arch. These structures will develop to form the neck and the head. The cause is still unknown. Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. Treatment is age-dependent, with interventions at appropriate stages during the growth and development of the skull and face. Last updated: 5/22/2017

MalaCards based summary : Hemifacial Microsomia, also known as goldenhar syndrome, is related to townes-brocks syndrome and skin tag, and has symptoms including malar flattening, agenesis of corpus callosum and intellectual disability. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and lung, and related phenotypes are cellular and digestive/alimentary

OMIM : 53 Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance (summary by Poole, 1989 and Hennekam et al., 2010). See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum. (164210)

Disease Ontology : 12 A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

Wikipedia : 72 Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect... more...

Related Diseases for Hemifacial Microsomia

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 townes-brocks syndrome 30.1 SALL1 SALL4
2 skin tag 29.8 ALX3 HOXA2
3 renal hypodysplasia/aplasia 1 29.5 HOXA2 SALL1
4 coloboma of macula 29.2 HOXA2 OTX2 SATB2
5 hemifacial microsomia with radial defects 12.4
6 craniofacial microsomia 11.9
7 folate malabsorption, hereditary 11.8
8 vacterl association 11.5
9 klippel-feil syndrome 11.2
10 dysostosis 10.2
11 duane-radial ray syndrome 10.2 SALL1 SALL4
12 chromosome 10p duplication 10.2
13 microtia 10.2
14 treacher collins syndrome 1 10.1
15 cleft lip 10.1
16 sirenomelia 10.1
17 branchiootorenal syndrome 9.9 HOXA2 OTX2 SALL1
18 cat eye syndrome 9.9
19 cri-du-chat syndrome 9.9
20 femoral-facial syndrome 9.9
21 solitary median maxillary central incisor 9.9
22 optic nerve hypoplasia, bilateral 9.9
23 telecanthus 9.9
24 vater/vacterl association 9.9
25 cerebellar hypoplasia 9.9
26 macrostomia, isolated 9.9
27 episodic pain syndrome, familial, 1 9.9
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
29 lymphedema 9.9
30 inguinal hernia 9.9
31 microphthalmia 9.9
32 heart disease 9.9
33 facial paralysis 9.9
34 ankylosis 9.9
35 pancreatitis 9.9
36 gigantism 9.9
37 branchiootorenal/branchiootic syndrome 9.9
38 hypotonia 9.9
39 cleft lip/palate 9.9
40 ptosis 9.9
41 congenital ptosis 9.9
42 central core myopathy 9.9
43 myopathy 9.9
44 poland syndrome 9.9 ALX3 HOXA2
45 anus, imperforate 9.9 SALL1 SATB2
46 agnathia-otocephaly complex 9.8 ALX3 OTX2
47 acrofrontofacionasal dysostosis 9.7 ALX3 SATB2
48 maxillonasal dysplasia, binder type 9.7 ALX3 SATB2
49 adult syndrome 9.7 BRF1 SATB2
50 van der woude syndrome 1 9.6 BRF1 SATB2

Graphical network of the top 20 diseases related to Hemifacial Microsomia:



Diseases related to Hemifacial Microsomia

Symptoms & Phenotypes for Hemifacial Microsomia

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
agenesis of corpus callosum
hydrocephalus
arnold-chiari malformation
occipital encephalocele
mental retardation
more
HeadAndNeckMouth:
cleft palate
cleft lip
macrostomia
parotid agenesis
soft palate malfunction

HeadAndNeckEyes:
strabismus
microphthalmia
blepharophimosis
epibulbar dermoid
anophthalmia
more
GenitourinaryUreters:
vesicoureteral reflux
ureteropelvic junction obstruction

SkeletalSpine:
hemivertebrae
block vertebrae
vertebral hypoplasia
vertebral anomalies

HeadAndNeckNeck:
branchial cleft remnant

HeadAndNeckEars:
microtia
unilateral external ear deformity
anotia
hearing loss, conductive
preauricular tags
more
GenitourinaryKidneys:
ectopic kidney
renal agenesis
multicystic dysplastic kidney

CardiovascularVascular:
patent ductus arteriosus

CardiovascularHeart:
tetralogy of fallot
ventricular septal defect
aortic coarctation

HeadAndNeckFace:
facial asymmetry
maxillary hypoplasia
mandibular hypoplasia
malar hypoplasia
small half of face
more
RespiratoryLung:
lung hypoplasia


Clinical features from OMIM:

164210

Human phenotypes related to Hemifacial Microsomia:

55 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 agenesis of corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001274
3 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
5 neurological speech impairment 55 31 frequent (33%) Frequent (79-30%) HP:0002167
6 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
7 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
8 microtia 55 31 frequent (33%) Frequent (79-30%) HP:0008551
9 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
10 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
11 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
12 laryngomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001601
13 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
14 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
15 ectopic kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000086
16 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
17 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
18 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
19 non-midline cleft lip 55 31 frequent (33%) Frequent (79-30%) HP:0100335
20 wide mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000154
21 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
22 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
23 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
24 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
25 abnormality of the pharynx 55 31 occasional (7.5%) Occasional (29-5%) HP:0000600
26 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
27 abnormality of the ribs 55 31 occasional (7.5%) Occasional (29-5%) HP:0000772
28 tracheoesophageal fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0002575
29 hemivertebrae 55 31 occasional (7.5%) Occasional (29-5%) HP:0002937
30 preauricular skin tag 55 31 hallmark (90%) Very frequent (99-80%) HP:0000384
31 tracheomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002779
32 facial asymmetry 55 31 hallmark (90%) Very frequent (99-80%) HP:0000324
33 epibulbar dermoid 55 31 frequent (33%) Frequent (79-30%) HP:0001140
34 atresia of the external auditory canal 55 31 frequent (33%) Frequent (79-30%) HP:0000413
35 block vertebrae 55 31 frequent (33%) Frequent (79-30%) HP:0003305
36 anophthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000528
37 aplasia/hypoplasia of the thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0009601
38 abnormality of the middle ear 55 31 frequent (33%) Frequent (79-30%) HP:0000370
39 renal agenesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000104
40 abnormality of the inner ear 55 31 frequent (33%) Frequent (79-30%) HP:0000359
41 upper eyelid coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000636
42 pulmonary hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002089
43 vertebral hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0008417
44 unilateral external ear deformity 55 31 frequent (33%) Frequent (79-30%) HP:0008605
45 hydrocephalus 31 HP:0000238
46 sensorineural hearing impairment 31 HP:0000407
47 strabismus 31 HP:0000486
48 patent ductus arteriosus 31 HP:0001643
49 coarctation of aorta 31 HP:0001680
50 arnold-chiari malformation 31 HP:0002308

MGI Mouse Phenotypes related to Hemifacial Microsomia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 SATB2 OTX2 SALL1 ALX3 SALL4 HOXA2
2 digestive/alimentary MP:0005381 9.88 SALL1 ALX3 SALL4 HOXA2 SATB2 OTX2
3 embryo MP:0005380 9.85 SALL1 ALX3 SALL4 HOXA2 SATB2 OTX2
4 craniofacial MP:0005382 9.83 ALX3 SALL4 HOXA2 SATB2 OTX2
5 mortality/aging MP:0010768 9.7 OTX2 SALL1 ALX3 SALL4 HOXA2 MYT1
6 hearing/vestibular/ear MP:0005377 9.62 OTX2 SALL1 SALL4 HOXA2
7 limbs/digits/tail MP:0005371 9.56 SALL1 ALX3 SALL4 SATB2
8 nervous system MP:0003631 9.43 SATB2 OTX2 SALL1 ALX3 SALL4 HOXA2
9 skeleton MP:0005390 9.1 OTX2 SALL1 ALX3 SALL4 HOXA2 SATB2

Drugs & Therapeutics for Hemifacial Microsomia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
2 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
3 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
4 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
5 Accuracy of a CAD/CAM Surgical Template for Mandible Distraction Recruiting NCT03270618
6 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312

Search NIH Clinical Center for Hemifacial Microsomia

Cochrane evidence based reviews: goldenhar syndrome

Genetic Tests for Hemifacial Microsomia

Genetic tests related to Hemifacial Microsomia:

# Genetic test Affiliating Genes
1 Goldenhar Syndrome 28

Anatomical Context for Hemifacial Microsomia

MalaCards organs/tissues related to Hemifacial Microsomia:

38
Eye, Kidney, Lung, Skin, Heart, Bone

Publications for Hemifacial Microsomia

Articles related to Hemifacial Microsomia:

(show top 50) (show all 240)
# Title Authors Year
1
Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. ( 29346049 )
2018
2
Asymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis. ( 29416828 )
2018
3
Three-dimensional analysis of cranial base morphology in patients with hemifacial microsomia. ( 29292127 )
2018
4
Hemifacial Microsomia and Accessory Auricles in an Adolescent Boy. ( 28400648 )
2017
5
Auricular Reconstruction in Hemifacial Microsomia with an Expanded Two-Flap Method. ( 28445373 )
2017
6
Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia. ( 28319315 )
2017
7
Effects of unilateral vertical mandibular distraction osteogenesis on airway anatomy in children with hemifacial microsomia. ( 29126770 )
2017
8
An integrated surgical protocol for adult patients with hemifacial microsomia: Methods and outcome. ( 28783745 )
2017
9
Hemifacial Microsomia in a Cat. ( 28718994 )
2017
10
Surgical correction of mandibular hypoplasia in hemifacial microsomia: A retrospective study in 39 patients. ( 28457824 )
2017
11
Reconstruction of nongrowing hemifacial microsomia patient with custom-made unilateral temporomandibular joint total joint prosthesis and orthognathic surgery. ( 28316925 )
2017
12
Hemifacial Microsomia : Clinicoradiological Insight and Report of a Case. ( 28458495 )
2017
13
Implant-Retained Prosthetic Auricular Reconstruction in a Hemifacial Microsomia Individual: A Clinical Report. ( 28085981 )
2017
14
Simultaneous maxillomandibular distraction osteogenesis in hemifacial microsomia: Report of 7 cases. ( 28706792 )
2017
15
Combined Bimaxillary Distraction Osteogenesis Associated with Orthognathic Surgery for Hemifacial Microsomia in Adults. ( 28233131 )
2017
16
Early Orthopaedic Treatment of Hemifacial Microsomia. ( 29387494 )
2017
17
Microsurgical SCIA/SIEA flap for facial contour correction in patient with hemifacial microsomia. ( 28604380 )
2017
18
Costochondral Graft in Young Children With Hemifacial Microsomia. ( 27922961 )
2017
19
Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association. ( 28377826 )
2017
20
Bimaxillary Orthognathic Approach to Correct Skeletal Facial Asymmetry of Hemifacial Microsomia in Adults. ( 26908014 )
2016
21
Computer-Assisted Distraction Osteogenesis in the Treatment of Hemifacial Microsomia. ( 27526230 )
2016
22
Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate. ( 26775633 )
2016
23
Neurotrophic keratopathy secondary to trigeminal nerve aplasia in patient with Goldenhar syndrome. ( 26819096 )
2016
24
A novel step osteotomy for correction of hemifacial microsomia - A case report. ( 27761391 )
2016
25
Relationship Between Mandibular Ramus Height and Masticatory Muscle Function in Patients With Unilateral Hemifacial Microsomia. ( 26752018 )
2016
26
Application of free serratus anterior fascial flap for reconstruction of ear deformity due to hemifacial microsomia: A report of two cases. ( 27987254 )
2016
27
Simultaneous maxillo-mandibular distraction in early adolescence as a single treatment modality for durable correction of type II unilateral hemifacial microsomia: Follow-up till completion of growth. ( 27499513 )
2016
28
Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia. ( 26894197 )
2016
29
Parental Stress in Parents of a Child With Hemifacial Microsomia: The Role of Child Characteristics and Parental Coping Strategies. ( 27632763 )
2016
30
Goldenhar Syndrome with Tessier's 7 Cleft: Report of a Case. ( 25838668 )
2015
31
Surgical guide assistant mandibular distraction osteogenesis and sagittal split osteotomy in the treatment of hemifacial microsomia. ( 25699536 )
2015
32
Sleep characteristics in Goldenhar Syndrome. ( 25636665 )
2015
33
The influence of gender and laterality on the incidence of hemifacial microsomia. ( 25723655 )
2015
34
Precise positioning of an intraoral distractor using augmented reality in patients with hemifacial microsomia. ( 25465484 )
2015
35
Distinguishing Goldenhar Syndrome from Craniofacial Microsomia. ( 26267577 )
2015
36
A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations. ( 26294998 )
2015
37
Three-dimensional functional unit analysis of hemifacial microsomia mandible-a preliminary report. ( 26413495 )
2015
38
Hemifacial microsomia and lung hypoplasia. ( 25946776 )
2015
39
Combined maxillary and mandibular distractionA osteogenesis in patients with hemifacial microsomia. ( 25919102 )
2015
40
Cranial base deviation in hemifacial microsomia by craniometric analysis. ( 25569421 )
2015
41
Installing an original sleeve for rod unaccessible pain from a distraction device in a hemifacial microsomia patient. ( 26073915 )
2015
42
Sequential treatment for a patient with hemifacial microsomia: 10 year-long term follow up. ( 25664313 )
2015
43
Nonsurgical Treatment of Hemifacial Microsomia: A Case Report. ( 26734473 )
2015
44
Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract. ( 26635984 )
2015
45
Goldenhar syndrome associated with contralateral agenesis of the internal carotid artery. ( 24750700 )
2014
46
Goldenhar syndrome - review with case series. ( 24959523 )
2014
47
Atypical Goldenhar syndrome presenting with an additional cranial bone. ( 25042723 )
2014
48
Maxillary involvement in hemifacial microsomia: an objective three-dimensional analysis of the craniofacial skeleton. ( 25006903 )
2014
49
Cephalometric outcomes of orthognathic surgery in hemifacial microsomia. ( 25203574 )
2014
50
Reply: mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. ( 25357064 )
2014

Variations for Hemifacial Microsomia

Expression for Hemifacial Microsomia

Search GEO for disease gene expression data for Hemifacial Microsomia.

Pathways for Hemifacial Microsomia

Pathways related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.31 SALL1 SALL4

GO Terms for Hemifacial Microsomia

Cellular components related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.56 ALX3 BRF1 HOXA2 MYT1 OTX2 SALL1
2 heterochromatin GO:0000792 8.62 SALL1 SALL4

Biological processes related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 OTX2 SALL1 SALL4 SATB2
2 multicellular organism development GO:0007275 9.55 ALX3 HOXA2 MYT1 OTX2 SATB2
3 transcription, DNA-templated GO:0006351 9.5 ALX3 BRF1 HOXA2 MYT1 SALL1 SALL4
4 somatic stem cell population maintenance GO:0035019 9.4 SALL1 SALL4
5 neurogenesis GO:0022008 9.37 SALL1 SALL4
6 embryonic skeletal system morphogenesis GO:0048704 9.32 ALX3 SATB2
7 ventricular septum development GO:0003281 9.26 SALL1 SALL4
8 regulation of transcription, DNA-templated GO:0006355 9.23 ALX3 BRF1 HOXA2 MYT1 OTX2 SALL1

Molecular functions related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.35 HOXA2 MYT1 OTX2 SALL1 SALL4
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.33 OTX2 SALL1 SATB2
3 sequence-specific DNA binding GO:0043565 9.1 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2

Sources for Hemifacial Microsomia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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