MCID: HMF006
MIFTS: 54

Hemifacial Microsomia

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

Aliases & Classifications for Hemifacial Microsomia

MalaCards integrated aliases for Hemifacial Microsomia:

Name: Hemifacial Microsomia 54 12 50 24 56 13
Goldenhar Syndrome 12 50 24 56 29 42 14 69
First and Second Branchial Arch Syndrome 12 50 24
Otomandibular Dysostosis 12 24 56
Expanded Spectrum of Hemifacial Microsomia 50 56
Facioauriculovertebral Dysplasia 50 56
Oculoauriculovertebral Dysplasia 50 56
Oculoauriculovertebral Syndrome 50 56
Oav Dysplasia 50 56
Oavs 50 56
Goldenhar Syndrome with Ipsilateral Radial Defect 69
Facio-Auriculo-Vertebral Spectrum 12
Facioauriculovertebral Sequence 50
First Branchial Arch Syndrome 56
Laterofacial Microsomia 56
Otomandibular Syndrome 56
First Arch Syndrome 12
Goldenhar Disease 50
Oav Dysplasia 12
Fav Sequence 50

Characteristics:

Orphanet epidemiological data:

56
goldenhar syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

54
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:

32
hemifacial microsomia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemifacial Microsomia

NIH Rare Diseases : 50 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 hemifacial microsomia with radial defects and craniofacial microsomia, and has symptoms including short stature, scoliosis and visual impairment. 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 digestive/alimentary and embryo

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.

OMIM : 54
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)

Wikipedia : 72 Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of... more...

Related Diseases for Hemifacial Microsomia

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 hemifacial microsomia with radial defects 12.1
2 craniofacial microsomia 11.8
3 vacterl association 11.4
4 lateral facial dysplasia 11.4
5 klippel-feil syndrome 11.1
6 oculo-auriculo-vertebral spectrum 10.9
7 non-syndromic intellectual disability 10.3 SALL1 SALL4
8 orbital granuloma 10.3 SALL1 SALL4
9 dysostosis 10.1
10 microtia 10.1
11 cataract 30, pulverulent 10.1 HOXA2 SALL1
12 pseudohypoparathyroidism ia 10.0 SALL1 SALL4
13 ureter transitional cell carcinoma 10.0 ALX3 HOXA2
14 cleft lip 10.0
15 sirenomelia 10.0
16 autosomal dominant microcephaly 10.0 HOXA2 OTX2 SALL1
17 polydactyly, postaxial, with progressive myopia 9.9 ALX3 HOXA2
18 agnathia-otocephaly complex 9.9 ALX3 OTX2
19 microphthalmia 9.8
20 heart disease 9.8
21 hypotonia 9.8
22 coloboma 9.8
23 cleft lip/palate 9.8
24 facial paralysis 9.8
25 optic nerve hypoplasia 9.8
26 cat eye syndrome 9.8
27 ankylosis 9.8
28 cri-du-chat syndrome 9.8
29 femoral-facial syndrome 9.8
30 pancreatitis 9.8
31 cerebellar hypoplasia 9.8
32 skin tag 9.8
33 lymphedema 9.8
34 townes-brocks syndrome 9.8
35 gigantism 9.8
36 inguinal hernia 9.8
37 myopathy 9.8
38 ptosis 9.8
39 mental retardation, autosomal recessive 46 9.8 ALX3 HOXA2
40 intracranial berry aneurysm 9.7 ALX3 SATB2
41 book syndrome 9.6 ALX3 SATB2
42 limb-mammary syndrome 9.6 BRF1 SATB2
43 mental retardation, autosomal recessive 55 9.1 ALX3 SATB2
44 kagami-ogata syndrome 6.7 ALX3 BRF1 HFM HOXA2 MYT1 OTX2

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:

54

Neurologic- Central Nervous System:
mental retardation
hydrocephalus
agenesis of corpus callosum
arnold-chiari malformation
occipital encephalocele
more
Head And Neck- Face:
mandibular hypoplasia
maxillary hypoplasia
malar hypoplasia
facial asymmetry
small half of face
more
Cardiovascular- Vascular:
patent ductus arteriosus

Cardiovascular- Heart:
ventricular septal defect
tetralogy of fallot
aortic coarctation

Head And Neck- Ears:
hearing loss, conductive
preauricular tags
external auditory canal atresia
microtia
hearing loss, sensorineural (in some patients)
more
Respiratory- Lung:
lung hypoplasia

Head And Neck- Eyes:
strabismus
microphthalmia
blepharophimosis
anophthalmia
epibulbar dermoid
more
Head And Neck- Mouth:
cleft palate
cleft lip
macrostomia
parotid agenesis
soft palate malfunction

Skeletal- Spine:
hemivertebrae
vertebral anomalies
block vertebrae
vertebral hypoplasia

Genitourinary- Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Genitourinary- Kidneys:
renal agenesis
ectopic kidney
multicystic dysplastic kidney

Head And Neck- Neck:
branchial cleft remnant


Clinical features from OMIM:

164210

Human phenotypes related to Hemifacial Microsomia:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 wide mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000154
5 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
6 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
7 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
8 pulmonary hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002089
9 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
10 hemivertebrae 56 32 occasional (7.5%) Occasional (29-5%) HP:0002937
11 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
12 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
13 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
14 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
15 agenesis of corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0001274
16 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
17 renal agenesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000104
18 tracheomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002779
19 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
20 facial asymmetry 56 32 hallmark (90%) Very frequent (99-80%) HP:0000324
21 tracheoesophageal fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0002575
22 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
23 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
24 microtia 56 32 frequent (33%) Frequent (79-30%) HP:0008551
25 anophthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000528
26 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
27 preauricular skin tag 56 32 hallmark (90%) Very frequent (99-80%) HP:0000384
28 block vertebrae 56 32 frequent (33%) Frequent (79-30%) HP:0003305
29 ectopic kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000086
30 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
31 laryngomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001601
32 unilateral external ear deformity 56 32 frequent (33%) Frequent (79-30%) HP:0008605
33 epibulbar dermoid 56 32 frequent (33%) Frequent (79-30%) HP:0001140
34 upper eyelid coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000636
35 vertebral hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0008417
36 neurological speech impairment 56 32 frequent (33%) Frequent (79-30%) HP:0002167
37 non-midline cleft lip 56 32 frequent (33%) Frequent (79-30%) HP:0100335
38 hypoplasia of the maxilla 56 32 hallmark (90%) Very frequent (99-80%) HP:0000327
39 abnormality of the pharynx 56 32 occasional (7.5%) Occasional (29-5%) HP:0000600
40 abnormality of the ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000772
41 atresia of the external auditory canal 56 32 frequent (33%) Frequent (79-30%) HP:0000413
42 aplasia/hypoplasia of the thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0009601
43 abnormality of the middle ear 56 32 frequent (33%) Frequent (79-30%) HP:0000370
44 abnormality of the inner ear 56 32 frequent (33%) Frequent (79-30%) HP:0000359
45 strabismus 32 HP:0000486
46 hydrocephalus 32 HP:0000238
47 patent ductus arteriosus 32 HP:0001643
48 coarctation of aorta 32 HP:0001680
49 vesicoureteral reflux 32 HP:0000076
50 ureteropelvic junction obstruction 32 HP:0000074

MGI Mouse Phenotypes related to Hemifacial Microsomia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.88 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2
2 embryo MP:0005380 9.85 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2
3 craniofacial MP:0005382 9.83 HOXA2 OTX2 SALL4 SATB2 ALX3
4 mortality/aging MP:0010768 9.7 ALX3 HOXA2 MYT1 OTX2 SALL1 SALL4
5 hearing/vestibular/ear MP:0005377 9.62 HOXA2 OTX2 SALL1 SALL4
6 limbs/digits/tail MP:0005371 9.56 ALX3 SALL1 SALL4 SATB2
7 nervous system MP:0003631 9.35 SALL4 ALX3 HOXA2 OTX2 SALL1
8 skeleton MP:0005390 9.1 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2

Drugs & Therapeutics for Hemifacial Microsomia

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


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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
2 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
3 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
4 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
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:

id Genetic test Affiliating Genes
1 Goldenhar Syndrome 29 24
2 First and Second Branchial Arch Syndrome 24
3 Hemifacial Microsomia 24
4 Otomandibular Dysostosis 24

Anatomical Context for Hemifacial Microsomia

MalaCards organs/tissues related to Hemifacial Microsomia:

39
Eye, Kidney, Lung, Heart, Trachea, Bone, Skin

Publications for Hemifacial Microsomia

Articles related to Hemifacial Microsomia:

(show top 50) (show all 71)
id Title Authors Year
1
Combined Bimaxillary Distraction Osteogenesis Associated with Orthognathic Surgery for Hemifacial Microsomia in Adults. ( 28233131 )
2017
2
Reconstruction of nongrowing hemifacial microsomia patient with custom-made unilateral temporomandibular joint total joint prosthesis and orthognathic surgery. ( 28316925 )
2017
3
Hemifacial Microsomia and Accessory Auricles in an Adolescent Boy. ( 28400648 )
2017
4
Simultaneous maxillomandibular distraction osteogenesis in hemifacial microsomia: Report of 7 cases. ( 28706792 )
2017
5
An integrated surgical protocol for adult patients with hemifacial microsomia: Methods and outcome. ( 28783745 )
2017
6
Microsurgical SCIA/SIEA flap for facial contour correction in patient with hemifacial microsomia. ( 28604380 )
2017
7
Surgical correction of mandibular hypoplasia in hemifacial microsomia: A retrospective study in 39 patients. ( 28457824 )
2017
8
Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia. ( 28319315 )
2017
9
Hemifacial Microsomia : Clinicoradiological Insight and Report of a Case. ( 28458495 )
2017
10
Hemifacial Microsomia in a Cat. ( 28718994 )
2017
11
Implant-Retained Prosthetic Auricular Reconstruction in a Hemifacial Microsomia Individual: A Clinical Report. ( 28085981 )
2017
12
Costochondral Graft in Young Children With Hemifacial Microsomia. ( 27922961 )
2017
13
Auricular Reconstruction in Hemifacial Microsomia with an Expanded Two-Flap Method. ( 28445373 )
2017
14
Bimaxillary Orthognathic Approach to Correct Skeletal Facial Asymmetry of Hemifacial Microsomia in Adults. ( 26908014 )
2016
15
Application of free serratus anterior fascial flap for reconstruction of ear deformity due to hemifacial microsomia: A report of two cases. ( 27987254 )
2016
16
Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate. ( 26775633 )
2016
17
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
18
Relationship Between Mandibular Ramus Height and Masticatory Muscle Function in Patients With Unilateral Hemifacial Microsomia. ( 26752018 )
2016
19
A novel step osteotomy for correction of hemifacial microsomia - A case report. ( 27761391 )
2016
20
Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia. ( 26894197 )
2016
21
Computer-Assisted Distraction Osteogenesis in the Treatment of Hemifacial Microsomia. ( 27526230 )
2016
22
Parental Stress in Parents of a Child With Hemifacial Microsomia: The Role of Child Characteristics and Parental Coping Strategies. ( 27632763 )
2016
23
Nonsurgical Treatment of Hemifacial Microsomia: A Case Report. ( 26734473 )
2015
24
The influence of gender and laterality on the incidence of hemifacial microsomia. ( 25723655 )
2015
25
Three-dimensional functional unit analysis of hemifacial microsomia mandible-a preliminary report. ( 26413495 )
2015
26
Installing an original sleeve for rod unaccessible pain from a distraction device in a hemifacial microsomia patient. ( 26073915 )
2015
27
Surgical guide assistant mandibular distraction osteogenesis and sagittal split osteotomy in the treatment of hemifacial microsomia. ( 25699536 )
2015
28
Precise positioning of an intraoral distractor using augmented reality in patients with hemifacial microsomia. ( 25465484 )
2015
29
Hemifacial microsomia and lung hypoplasia. ( 25946776 )
2015
30
A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations. ( 26294998 )
2015
31
Combined maxillary and mandibular distractionA osteogenesis in patients with hemifacial microsomia. ( 25919102 )
2015
32
Cranial base deviation in hemifacial microsomia by craniometric analysis. ( 25569421 )
2015
33
Sequential treatment for a patient with hemifacial microsomia: 10 year-long term follow up. ( 25664313 )
2015
34
Development of a morphing technique for predicting the position and size of an artificial ear in hemifacial microsomia patients. ( 25191888 )
2014
35
Onlay bone grafting simultaneous with facial soft tissue augmentation in a hemifacial microsomia patient using de-epithelialized orthograde submental flap: a technical note. ( 24753799 )
2014
36
Mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. ( 25357063 )
2014
37
Three-dimensional longitudinal changes in craniofacial growth in untreated hemifacial microsomia patients with cone-beam computed tomography. ( 24785922 )
2014
38
OTX2 duplication is implicated in hemifacial microsomia. ( 24816892 )
2014
39
Maxillary involvement in hemifacial microsomia: an objective three-dimensional analysis of the craniofacial skeleton. ( 25006903 )
2014
40
Cephalometric Outcomes of Orthognathic Surgery in Hemifacial Microsomia. ( 25072970 )
2014
41
Reply: mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. ( 25357064 )
2014
42
Frey's syndrome following total ear reconstruction in hemifacial microsomia. ( 24909627 )
2014
43
Cephalometric outcomes of orthognathic surgery in hemifacial microsomia. ( 25203574 )
2014
44
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? ( 22643051 )
2013
45
A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate. ( 23312528 )
2013
46
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. ( 23794175 )
2013
47
Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. ( 22456406 )
2012
48
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. ( 19923986 )
2010
49
Isolated microtia as a marker for unsuspected hemifacial microsomia. ( 17938322 )
2007
50
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. ( 16411190 )
2006

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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter 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:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.35 HOXA2 MYT1 OTX2 SALL1 SALL4
2 RNA polymerase II core promoter proximal region 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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