OAVS
MCID: HMF006
MIFTS: 55

Hemifacial Microsomia (OAVS) malady

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

Aliases & Classifications for Hemifacial Microsomia

Aliases & Descriptions for Hemifacial Microsomia:

Name: Hemifacial Microsomia 54 12 50 24 56 13
Goldenhar Syndrome 12 50 24 56 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
Goldenhar Disease 50 29
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
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;

HPO:

32
hemifacial microsomia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 164210
Disease Ontology 12 DOID:2907
ICD10 33 Q87.0
MeSH 42 D006053
NCIt 47 C84740
ICD10 via Orphanet 34 Q87.0 Q75.8
MESH via Orphanet 43 D006053
UMLS via Orphanet 70 C0265240 C0432130
UMLS 69 C0265240

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 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 drugs Pregabalin and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and lung, and related phenotypes are digestive/alimentary and cardiovascular system

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... (164210) more...

Wikipedia : 71 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 45)
id Related Disease Score Top Affiliating Genes
1 hemifacial microsomia with radial defects 12.1
2 craniofacial microsomia 11.8
3 lateral facial dysplasia 11.4
4 vater/vacterl association 11.1
5 klippel-feil syndrome 11.1
6 oculo-auriculo-vertebral spectrum 10.9
7 dysostosis 10.1
8 stuttering, familial persistent, 4 10.1 SALL1 SALL4
9 dressler's syndrome 10.1 SALL1 SALL4
10 pseudohypoparathyroidism ia 10.1 SALL1 SALL4
11 microtia 10.1
12 oliver syndrome 10.0 ALX3 HOXA2
13 macular degeneration, age-related, 1 10.0 ALX3 OTX2
14 hereditary angioedema 10.0 HOXA2 OTX2 SALL1
15 baraitser-winter syndrome 10.0 ALX3 SATB2
16 cleft lip 10.0
17 sirenomelia 10.0
18 blepharoptosis, myopia, and ectopia lentis 10.0 ALX3 SATB2
19 otofaciocervical syndrome 9.9 FRAS1 HOXA2 SALL1
20 ichthyosis, congenital, autosomal recessive 6 9.9 ALX3 HOXA2
21 pancreatic agenesis 2 9.9 FRAS1 HOXA2 SALL1
22 extragonadal germ cell cancer 9.9 OTX2 PTCH1
23 femoral-facial syndrome 9.8
24 cerebellar hypoplasia 9.8
25 gigantism 9.8
26 lymphedema 9.8
27 inguinal hernia 9.8
28 hypotonia 9.8
29 microphthalmia 9.8
30 cleft lip/palate 9.8
31 heart disease 9.8
32 facial paralysis 9.8
33 optic nerve hypoplasia 9.8
34 ankylosis 9.8
35 townes-brocks syndrome 9.8
36 cat eye syndrome 9.8
37 pancreatitis 9.8
38 cri-du-chat syndrome 9.8
39 skin tag 9.8
40 ptosis 9.8
41 myopathy 9.8
42 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 9.8 ALX3 SATB2
43 glomangiomatosis 9.8 ALX3 HOXA2 PTCH1
44 cornelia de lange syndrome 5 9.7 FRAS1 HOXA2 OTX2 SATB2
45 temple syndrome 8.8 ALX3 FRAS1 HFM HOXA2 OTX2 PTCH1

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



Diseases related to Hemifacial Microsomia

Symptoms & Phenotypes for Hemifacial Microsomia

Symptoms by clinical synopsis from OMIM:

164210

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 malar flattening 56 32 Very frequent (99-80%) HP:0000272
2 agenesis of corpus callosum 56 32 Occasional (29-5%) HP:0001274
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
5 neurological speech impairment 56 32 Frequent (79-30%) HP:0002167
6 scoliosis 56 32 Occasional (29-5%) HP:0002650
7 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
8 microtia 56 32 Frequent (79-30%) HP:0008551
9 visual impairment 56 32 Occasional (29-5%) HP:0000505
10 short stature 56 32 Occasional (29-5%) HP:0004322
11 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
12 laryngomalacia 56 32 Occasional (29-5%) HP:0001601
13 cleft palate 56 32 Frequent (79-30%) HP:0000175
14 micrognathia 56 32 Frequent (79-30%) HP:0000347
15 ectopic kidney 56 32 Occasional (29-5%) HP:0000086
16 autism 56 32 Occasional (29-5%) HP:0000717
17 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
18 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
19 non-midline cleft lip 56 32 Frequent (79-30%) HP:0100335
20 wide mouth 56 32 Occasional (29-5%) HP:0000154
21 microphthalmia 56 32 Occasional (29-5%) HP:0000568
22 hypoplasia of the maxilla 56 32 Very frequent (99-80%) HP:0000327
23 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
24 tetralogy of fallot 56 32 Occasional (29-5%) HP:0001636
25 abnormality of the pharynx 56 32 Occasional (29-5%) HP:0000600
26 ventricular septal defect 56 32 Occasional (29-5%) HP:0001629
27 abnormality of the ribs 56 32 Occasional (29-5%) HP:0000772
28 tracheoesophageal fistula 56 32 Occasional (29-5%) HP:0002575
29 hemivertebrae 56 32 Occasional (29-5%) HP:0002937
30 preauricular skin tag 56 32 Very frequent (99-80%) HP:0000384
31 tracheomalacia 56 32 Occasional (29-5%) HP:0002779
32 facial asymmetry 56 32 Very frequent (99-80%) HP:0000324
33 epibulbar dermoid 56 32 Frequent (79-30%) HP:0001140
34 atresia of the external auditory canal 56 32 Frequent (79-30%) HP:0000413
35 block vertebrae 56 32 Frequent (79-30%) HP:0003305
36 anophthalmia 56 32 Occasional (29-5%) HP:0000528
37 aplasia/hypoplasia of the thumb 56 32 Occasional (29-5%) HP:0009601
38 abnormality of the middle ear 56 32 Frequent (79-30%) HP:0000370
39 renal agenesis 56 32 Occasional (29-5%) HP:0000104
40 abnormality of the inner ear 56 32 Frequent (79-30%) HP:0000359
41 upper eyelid coloboma 56 32 Occasional (29-5%) HP:0000636
42 pulmonary hypoplasia 56 32 Occasional (29-5%) HP:0002089
43 vertebral hypoplasia 56 32 Frequent (79-30%) HP:0008417
44 unilateral external ear deformity 56 32 Frequent (79-30%) HP:0008605
45 hydrocephalus 32 HP:0000238
46 sensorineural hearing impairment 32 HP:0000407
47 strabismus 32 HP:0000486
48 patent ductus arteriosus 32 HP:0001643
49 coarctation of aorta 32 HP:0001680
50 arnold-chiari malformation 32 HP:0002308

MGI Mouse Phenotypes related to Hemifacial Microsomia:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.08 ALX3 FRAS1 HOXA2 OTX2 PTCH1 SALL1
2 cardiovascular system MP:0005385 10.07 FRAS1 HOXA2 OTX2 PTCH1 SALL1 SALL4
3 cellular MP:0005384 10.05 OTX2 PTCH1 SALL1 SALL4 ALX3 FRAS1
4 craniofacial MP:0005382 10.04 OTX2 PTCH1 SALL4 SATB2 ALX3 FRAS1
5 growth/size/body region MP:0005378 10.03 SATB2 ALX3 FRAS1 HOXA2 OTX2 PTCH1
6 behavior/neurological MP:0005386 10.01 ALX3 HOXA2 OTX2 PTCH1 SALL1 SALL4
7 embryo MP:0005380 10 ALX3 HOXA2 OTX2 PTCH1 SALL1 SALL4
8 mortality/aging MP:0010768 9.92 ALX3 FRAS1 HOXA2 OTX2 PTCH1 SALL1
9 limbs/digits/tail MP:0005371 9.85 ALX3 FRAS1 PTCH1 SALL1 SALL4 SATB2
10 nervous system MP:0003631 9.73 ALX3 HOXA2 OTX2 PTCH1 SALL1 SALL4
11 hearing/vestibular/ear MP:0005377 9.71 HOXA2 OTX2 SALL1 SALL4
12 respiratory system MP:0005388 9.63 PTCH1 SATB2 ALX3 FRAS1 HOXA2 OTX2
13 skeleton MP:0005390 9.56 ALX3 FRAS1 HOXA2 OTX2 PTCH1 SALL1
14 vision/eye MP:0005391 9.02 ALX3 FRAS1 OTX2 PTCH1 SALL4

Drugs & Therapeutics for Hemifacial Microsomia

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

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
2 Analgesics Phase 4
3 Anti-Anxiety Agents Phase 4
4 Anticonvulsants Phase 4
5 calcium channel blockers Phase 4
6 Calcium, Dietary Phase 4
7 Central Nervous System Depressants Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Psychotropic Drugs Phase 4
10 Tranquilizing Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Examination of Pregabalin Access for Treatment of Indicated Pain Disorders: the ExPAND Study Terminated NCT01280747 Phase 4
2 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
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 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
6 Role of Mesenchymal Stem Cells in Fat Grafting Not yet recruiting NCT02494752

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 67)
id Title Authors Year
1
Reconstruction of nongrowing hemifacial microsomia patient with custom-made unilateral temporomandibular joint total joint prosthesis and orthognathic surgery. ( 28316925 )
2017
2
Auricular Reconstruction in Hemifacial Microsomia with an Expanded Two-Flap Method. ( 28445373 )
2017
3
Implant-Retained Prosthetic Auricular Reconstruction in a Hemifacial Microsomia Individual: A Clinical Report. ( 28085981 )
2017
4
Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia. ( 28319315 )
2017
5
Combined Bimaxillary Distraction Osteogenesis Associated with Orthognathic Surgery for Hemifacial Microsomia in Adults. ( 28233131 )
2017
6
Surgical correction of mandibular hypoplasia in hemifacial microsomia: A retrospective study in 39 patients. ( 28457824 )
2017
7
Costochondral Graft in Young Children With Hemifacial Microsomia. ( 27922961 )
2017
8
Hemifacial Microsomia : Clinicoradiological Insight and Report of a Case. ( 28458495 )
2017
9
Hemifacial Microsomia and Accessory Auricles in an Adolescent Boy. ( 28400648 )
2017
10
Parental Stress in Parents of a Child With Hemifacial Microsomia: The Role of Child Characteristics and Parental Coping Strategies. ( 27632763 )
2016
11
Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia. ( 26894197 )
2016
12
Relationship Between Mandibular Ramus Height and Masticatory Muscle Function in Patients With Unilateral Hemifacial Microsomia. ( 26752018 )
2016
13
A novel step osteotomy for correction of hemifacial microsomia - A case report. ( 27761391 )
2016
14
Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate. ( 26775633 )
2016
15
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
16
Application of free serratus anterior fascial flap for reconstruction of ear deformity due to hemifacial microsomia: A report of two cases. ( 27987254 )
2016
17
Computer-Assisted Distraction Osteogenesis in the Treatment of Hemifacial Microsomia. ( 27526230 )
2016
18
Bimaxillary Orthognathic Approach to Correct Skeletal Facial Asymmetry of Hemifacial Microsomia in Adults. ( 26908014 )
2016
19
A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations. ( 26294998 )
2015
20
Installing an original sleeve for rod unaccessible pain from a distraction device in a hemifacial microsomia patient. ( 26073915 )
2015
21
The influence of gender and laterality on the incidence of hemifacial microsomia. ( 25723655 )
2015
22
Precise positioning of an intraoral distractor using augmented reality in patients with hemifacial microsomia. ( 25465484 )
2015
23
Cranial base deviation in hemifacial microsomia by craniometric analysis. ( 25569421 )
2015
24
Sequential treatment for a patient with hemifacial microsomia: 10 year-long term follow up. ( 25664313 )
2015
25
Three-dimensional functional unit analysis of hemifacial microsomia mandible-a preliminary report. ( 26413495 )
2015
26
Surgical guide assistant mandibular distraction osteogenesis and sagittal split osteotomy in the treatment of hemifacial microsomia. ( 25699536 )
2015
27
Combined maxillary and mandibular distractionA osteogenesis in patients with hemifacial microsomia. ( 25919102 )
2015
28
Hemifacial microsomia and lung hypoplasia. ( 25946776 )
2015
29
Nonsurgical Treatment of Hemifacial Microsomia: A Case Report. ( 26734473 )
2015
30
Cephalometric Outcomes of Orthognathic Surgery in Hemifacial Microsomia. ( 25072970 )
2014
31
Frey's syndrome following total ear reconstruction in hemifacial microsomia. ( 24909627 )
2014
32
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
33
Three-dimensional longitudinal changes in craniofacial growth in untreated hemifacial microsomia patients with cone-beam computed tomography. ( 24785922 )
2014
34
Mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. ( 25357063 )
2014
35
OTX2 duplication is implicated in hemifacial microsomia. ( 24816892 )
2014
36
Development of a morphing technique for predicting the position and size of an artificial ear in hemifacial microsomia patients. ( 25191888 )
2014
37
Reply: mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. ( 25357064 )
2014
38
Cephalometric outcomes of orthognathic surgery in hemifacial microsomia. ( 25203574 )
2014
39
Maxillary involvement in hemifacial microsomia: an objective three-dimensional analysis of the craniofacial skeleton. ( 25006903 )
2014
40
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. ( 23794175 )
2013
41
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? ( 22643051 )
2013
42
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
43
Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. ( 22456406 )
2012
44
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. ( 19923986 )
2010
45
Isolated microtia as a marker for unsuspected hemifacial microsomia. ( 17938322 )
2007
46
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. ( 16411190 )
2006
47
An optic nerve hypoplasia and coloboma in a patient with hemifacial microsomia. ( 15305536 )
2004
48
Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. ( 15287060 )
2004
49
Femoral-facial syndrome with hemifacial microsomia and hypoglossia. ( 15127766 )
2004
50
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: branchio-oto-renal syndrome or hemifacial microsomia with additional findings. ( 12884440 )
2003

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 heterochromatin GO:0000792 8.62 SALL1 SALL4

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.97 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.72 HOXA2 OTX2 SALL1 SALL4 SATB2
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.65 HOXA2 PTCH1 SALL1 SALL4 SATB2
4 palate development GO:0060021 9.57 FRAS1 SATB2
5 neural tube closure GO:0001843 9.56 PTCH1 SALL4
6 somatic stem cell population maintenance GO:0035019 9.55 SALL1 SALL4
7 neurogenesis GO:0022008 9.54 SALL1 SALL4
8 dorsal/ventral pattern formation GO:0009953 9.52 HOXA2 PTCH1
9 branching involved in ureteric bud morphogenesis GO:0001658 9.51 PTCH1 SALL1
10 negative regulation of osteoblast differentiation GO:0045668 9.48 HOXA2 PTCH1
11 ventricular septum development GO:0003281 9.46 SALL1 SALL4
12 regulation of smoothened signaling pathway GO:0008589 9.43 OTX2 PTCH1
13 cell fate determination GO:0001709 9.4 HOXA2 PTCH1
14 osteoblast development GO:0002076 9.37 HOXA2 SATB2
15 embryonic limb morphogenesis GO:0030326 9.33 FRAS1 PTCH1 SALL4
16 pattern specification process GO:0007389 9.13 ALX3 HOXA2 PTCH1
17 embryonic skeletal system morphogenesis GO:0048704 8.8 ALX3 HOXA2 SATB2

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 9.46 HOXA2 OTX2 SALL1 SALL4
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.26 HOXA2 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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