OFD8
MCID: ORF040
MIFTS: 60

Orofaciodigital Syndrome Viii (OFD8)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Orofaciodigital Syndrome Viii

MalaCards integrated aliases for Orofaciodigital Syndrome Viii:

Name: Orofaciodigital Syndrome Viii 57 12 53
Edwards Syndrome 57 12 76 53 25 59 37 55 15
Trisomy 18 12 53 25 59 15 73
Complete Trisomy 18 Syndrome 12 25 29 73
Orofaciodigital Syndrome 8 53 29 44 73
Ofd8 57 12 53 59
Oral-Facial-Digital Syndrome with Hypoplastic Epiglottis 57 53
Oral-Facial-Digital Syndrome Type 8 53 59
Orofaciodigital Syndrome Type 8 53 59
Trisomy 18 Syndrome 25 44
Cleft Lip/palate with Abnormal Thumbs and Microcephaly 73
Oral-Facial-Digital Syndrome, Edwards Type 59
Oral-Facial-Digital Syndrome, Type Viii 57
Orofaciodigital Syndrome, Edwards Type 59
Oral Facial Digital Syndrome Type 8 53
Oral Facial Digital Syndrome 8 53
Chromosome 18 Duplication 59
Chromosome 18 Trisomy 53
Trisomy E Syndrome 25
Ofd Syndrome 8 53
E3 Trisomy 12
18 Trisomy 53
Ofds Viii 57
Ofds 8 53

Characteristics:

Orphanet epidemiological data:

59
trisomy 18
Inheritance: Not applicable; Prevalence: 1-9/100000 (Austria),1-9/100000 (Hungary),1-5/10000 (Ireland),1-9/100000 (Italy),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Europe),1-9/1000000 (Europe),1-9/100000 (France),1-9/100000 (Belgium),1-9/100000 (Germany),1-5/10000 (Malta),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (Japan),1-5/10000; Age of onset: Antenatal,Neonatal; Age of death: early childhood;
orofaciodigital syndrome type 8
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
mild manifestations in carrier females (cleft lip, cleft tongue)

Inheritance:
x-linked recessive


HPO:

32
orofaciodigital syndrome viii:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Viii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2755Disease definitionOral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.EpidemiologyThe syndrome has been described in one family with four affected males in three generations.Clinical descriptionIncreased susceptibility to respiratory infections has been noted.EtiologyX-linked recessive transmission has been suggested, but the causative gene has not yet been identified.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Viii, also known as edwards syndrome, is related to patau syndrome and triploidy. An important gene associated with Orofaciodigital Syndrome Viii is AFP (Alpha Fetoprotein), and among its related pathways/superpathways are Apoptosis and Autophagy and NF-kappa B signaling pathway. Affiliated tissues include tongue, heart and testes, and related phenotypes are hypertelorism and muscular hypotonia

Disease Ontology : 12 An orofaciodigital syndrome characterized by hypertelorism or telecanthus, broad, bifid nasal tip, median cleft lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, bilateral polydactyly, and duplicated halluces.

Genetics Home Reference : 25 Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.

Wikipedia : 76 Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by a third copy of all or part... more...

Description from OMIM: 300484

Related Diseases for Orofaciodigital Syndrome Viii

Diseases in the Orofaciodigital Syndrome family:

Orofaciodigital Syndrome X Orofaciodigital Syndrome V
Orofaciodigital Syndrome Iii Orofaciodigital Syndrome Iv
Orofaciodigital Syndrome Ix Orofaciodigital Syndrome Vi
Orofaciodigital Syndrome Viii Orofaciodigital Syndrome I
Orofaciodigital Syndrome Vii Orofaciodigital Syndrome Xi
Orofaciodigital Syndrome Xiv Orofaciodigital Syndrome Xv
Orofaciodigital Syndrome Xvi Orofaciodigital Syndrome Xvii
Orofaciodigital Syndrome Xviii Orofaciodigital Syndrome 12
Orofaciodigital Syndrome 13

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 patau syndrome 31.6 AFP AGO2
2 triploidy 30.4 AFP CGA PAPPA
3 chromosomal triplication 30.2 AFP CGA MALT1
4 lymphoma, mucosa-associated lymphoid type 30.0 BCL10 BIRC3 MALT1
5 b-cell lymphomas 29.8 BCL10 BIRC3 MALT1
6 marginal zone b-cell lymphoma 29.6 BCL10 BIRC3 MALT1
7 chromosome 18p duplication 11.3
8 orofaciodigital syndrome 11.2
9 developmental dysplasia of the hip 1 11.2
10 pancreas, annular 11.2
11 microtia-anotia 11.2
12 chromosome 18q duplication 11.1
13 intermediate malignant teratoma 10.2 AFP PAPPA
14 ovarian mixed germ cell neoplasm 10.2 AFP CGA
15 polyembryoma 10.2 AFP CGA
16 sacrococcygeal teratoma 10.2 AFP CGA
17 hepatoblastoma 10.2
18 mixed germ cell tumor 10.2 AFP CGA
19 testicular seminoma 10.2 AFP CGA
20 mosaic trisomy 13 10.2
21 lymphoma 10.2
22 hydrocele 10.2 AFP CGA
23 primary cutaneous marginal zone b-cell lymphoma 10.2 BCL10 MALT1
24 pancreatic acinar cell adenocarcinoma 10.2 AFP BCL10
25 prostate lymphoma 10.1 BIRC3 MALT1
26 rh isoimmunization 10.1 AFP BCL10
27 placenta disease 10.1 AFP CGA PAPPA
28 down syndrome 10.1
29 acinar cell carcinoma 10.1 AFP BCL10
30 cystadenofibroma 10.1 AFP INHA
31 neural tube defects 10.1
32 neural tube defects, folate-sensitive 10.1
33 ventricular septal defect 10.1
34 lung lymphoma 10.1 BIRC3 MALT1
35 trophoblastic neoplasm 10.1 CGA INHA
36 ectopic pregnancy 10.0 ADAM12 CGA PAPPA
37 anencephaly 10.0
38 cerebellar hypoplasia 10.0
39 alkuraya-kucinskas syndrome 10.0
40 splenic marginal zone lymphoma 10.0 BIRC3 MALT1
41 seminoma 10.0 AFP CGA INHA
42 oligohydramnios 10.0 AFP CGA
43 ectopia cordis 10.0
44 sex cord-gonadal stromal tumor 10.0 AFP INHA
45 omphalocele 9.9
46 microphthalmia 9.9
47 lymphoma, non-hodgkin, familial 9.9 BCL10 BIRC3 MALT1
48 dandy-walker syndrome 9.9
49 hypomelanosis of ito 9.9
50 wilms tumor 6 9.9

Graphical network of the top 20 diseases related to Orofaciodigital Syndrome Viii:



Diseases related to Orofaciodigital Syndrome Viii

Symptoms & Phenotypes for Orofaciodigital Syndrome Viii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus

Head And Neck Mouth:
cleft palate
median cleft lip
high-arched palate
oral frenula
tongue lobulation
more
Skeletal Hands:
syndactyly
polydactyly

Skin Nails Hair Skin:
milia

Neurologic Central Nervous System:
developmental delay

Respiratory Larynx:
hypoplastic epiglottis

Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
bifid nasal tip

Skeletal Feet:
syndactyly
bifid halluces
forked metatarsal

Respiratory Lung:
recurrent aspiration pneumonia

Skeletal Limbs:
short tibiae

Head And Neck Teeth:
absent teeth


Clinical features from OMIM:

300484

Human phenotypes related to Orofaciodigital Syndrome Viii:

59 32 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000189
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
7 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
8 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
11 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
12 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
15 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
16 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
17 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
18 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
19 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
20 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
21 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
22 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
23 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
24 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
25 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
26 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
27 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
28 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
29 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
30 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
31 abnormality of the fontanelles or cranial sutures 59 32 frequent (33%) Frequent (79-30%) HP:0000235
32 anal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0002023
33 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
34 choanal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000453
35 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
36 spina bifida 59 32 occasional (7.5%) Occasional (29-5%) HP:0002414
37 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
38 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
39 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
40 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
41 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
42 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
43 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
44 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
45 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
46 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
47 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
48 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
49 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
50 anencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002323

GenomeRNAi Phenotypes related to Orofaciodigital Syndrome Viii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with paclitaxel GR00101-A-3 8.62 BIRC3 HCFC1

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Viii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.28 ADAM12 AFP AGO2 BCL10 BIRC3 HCFC1

Drugs & Therapeutics for Orofaciodigital Syndrome Viii

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Viii

Cochrane evidence based reviews: trisomy 18 syndrome

Genetic Tests for Orofaciodigital Syndrome Viii

Genetic tests related to Orofaciodigital Syndrome Viii:

# Genetic test Affiliating Genes
1 Complete Trisomy 18 Syndrome 29
2 Orofaciodigital Syndrome 8 29

Anatomical Context for Orofaciodigital Syndrome Viii

MalaCards organs/tissues related to Orofaciodigital Syndrome Viii:

41
Tongue, Heart, Testes, Bone, Eye, Placenta, B Cells

Publications for Orofaciodigital Syndrome Viii

Articles related to Orofaciodigital Syndrome Viii:

(show top 50) (show all 55)
# Title Authors Year
1
Hypoxia due to positive pressure ventilation in Edwards' syndrome: A case report. ( 29125001 )
2018
2
Strawberry skull in Edwards syndrome. ( 30363185 )
2017
3
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. ( 27490343 )
2016
4
Two-Dimensional Differential Gel Electrophoresis to Identify Protein Biomarkers in Amniotic Fluid of Edwards Syndrome (Trisomy 18) Pregnancies. ( 26752631 )
2016
5
A tumor profile in Edwards syndrome (trisomy 18). ( 27474103 )
2016
6
Anesthetic management of a patient with Edwards syndrome. ( 27525073 )
2016
7
Edwards' syndrome. ( 27927129 )
2016
8
Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome. ( 26561224 )
2015
9
Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures. ( 26324424 )
2015
10
Aberrant "Barbed-Wire" Nuclear Projections of Neutrophils in Trisomy 18 (Edwards Syndrome). ( 26770846 )
2015
11
Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome). ( 24478819 )
2014
12
Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome. ( 24132880 )
2014
13
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. ( 25593701 )
2014
14
Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil. ( 25388684 )
2014
15
When Cri du chat syndrome meets Edwards syndrome. ( 25385231 )
2014
16
A very rare entity of diabetes insipidus associated with Edwards syndrome. ( 24074370 )
2013
17
Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations. ( 23657517 )
2013
18
Craniofacial abnormalities among patients with Edwards Syndrome. ( 24142310 )
2013
19
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. ( 23949924 )
2013
20
Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report. ( 21228546 )
2011
21
[Clinical courses of trisomy 18 (Edwards syndrome) - an update]. ( 21755483 )
2011
22
Edwards syndrome in a 6-year old girl. ( 20150875 )
2010
23
Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome. ( 21152411 )
2010
24
Unusual clinical history of a male infant with Edwards syndrome. ( 18575830 )
2009
25
Edwards syndrome with double trisomy. ( 18695855 )
2008
26
Maternal serum ADAM12 levels in Down and Edwards' syndrome pregnancies at 9-12 weeks' gestation. ( 16752438 )
2006
27
Prenatally diagnosable differences in the cellular immunity of fetuses with Down's and Edwards' syndrome. ( 16969005 )
2006
28
Characterisation of a 19-year-old &amp;quot;long-term survivor&amp;quot; with Edwards syndrome. ( 12872820 )
2003
29
A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin. ( 9272714 )
1997
30
Triple test for prenatal detection of Edwards syndrome (trisomy 18). ( 8624894 )
1996
31
Parental origin of the extra chromosome 18 in Edwards syndrome. ( 8766143 )
1996
32
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. ( 9047985 )
1996
33
Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. ( 8079991 )
1994
34
Down's syndrome, Edwards' syndrome, Patau's syndrome--synthesis of glycosaminoglycans. ( 8034299 )
1994
35
Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome). ( 8225314 )
1993
36
Trisomy 18-Edwards syndrome: a report of three patients. ( 8131193 )
1993
37
Trisomy 18 (Edwards syndrome): report of two cases. ( 1295656 )
1992
38
Edwards' syndrome after the replacement of cryopreserved-thawed embryos. ( 1986963 )
1991
39
[The gene-dose effect for peptidase A on the erythrocytes of a patient with Edwards' syndrome]. ( 2075105 )
1990
40
Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome. ( 2277391 )
1990
41
Microphthalmos with cyst and Edwards' syndrome. ( 2405684 )
1990
42
Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease. ( 3303007 )
1987
43
Antenatal ultrasonographic diagnosis of trisomy 18 (Edwards syndrome). ( 3319733 )
1987
44
Ocular pathology in trisomy 18 (Edwards' syndrome). ( 3725316 )
1986
45
Trisomy 18 (Edwards syndrome) in Delaware. ( 6840358 )
1983
46
Trisomy 18 (Edwards syndrome) in Delaware. ( 7160501 )
1982
47
Muscular and other abnormalities in a case of Edwards' syndrome (18-trisomy). ( 524303 )
1979
48
Prevalence of Edwards' syndrome. Clustering and seasonal variation? ( 1112599 )
1975
49
The clinical and genetic picture of trisomy 18 (Edwards' syndrome). ( 4129502 )
1973
50
Ocular pathology in trisomy 18(Edwards' syndrome). ( 4725009 )
1973

Variations for Orofaciodigital Syndrome Viii

Copy number variations for Orofaciodigital Syndrome Viii from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 119212 18 1 78077248 Copy number Trisomy 18 syndrome

Expression for Orofaciodigital Syndrome Viii

Search GEO for disease gene expression data for Orofaciodigital Syndrome Viii.

Pathways for Orofaciodigital Syndrome Viii

Pathways related to Orofaciodigital Syndrome Viii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.6 BCL10 BIRC3 MALT1
2 10.78 BCL10 BIRC3 MALT1
3 10.32 BCL10 MALT1

GO Terms for Orofaciodigital Syndrome Viii

Cellular components related to Orofaciodigital Syndrome Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.26 BCL10 BIRC3 HCFC1 MALT1
2 CBM complex GO:0032449 8.62 BCL10 MALT1

Biological processes related to Orofaciodigital Syndrome Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.58 BCL10 BIRC3 MALT1
2 regulation of apoptotic process GO:0042981 9.56 BCL10 BIRC3 INHA MALT1
3 lipopolysaccharide-mediated signaling pathway GO:0031663 9.43 BCL10 MALT1
4 positive regulation of T cell activation GO:0050870 9.37 BCL10 MALT1
5 response to molecule of bacterial origin GO:0002237 9.32 BCL10 MALT1
6 response to fungus GO:0009620 9.16 BCL10 MALT1
7 positive regulation of protein ubiquitination GO:0031398 9.13 BCL10 BIRC3 MALT1
8 regulation of T cell receptor signaling pathway GO:0050856 8.62 BCL10 MALT1

Molecular functions related to Orofaciodigital Syndrome Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activator activity GO:0019209 8.62 BCL10 MALT1

Sources for Orofaciodigital Syndrome Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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