OFDS
MCID: ORF001
MIFTS: 47

Orofaciodigital Syndrome (OFDS) malady

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

Aliases & Classifications for Orofaciodigital Syndrome

Aliases & Descriptions for Orofaciodigital Syndrome:

Name: Orofaciodigital Syndrome 12 50 25 14
Orofaciodigital Syndromes 50 29 69
Oral-Facial-Digital Syndrome 25 29
Oral Facial Digital Syndromes 50
Oral-Facial-Digital Syndromes 50
Orofaciodigital Syndrome I 69
Oro-Facio-Digital Syndrome 25
Orodigitofacial Dysostosis 25
Dysplasia Linguofacialis 25
Orodigitofacial Syndrome 25
Ofds 25

Classifications:



External Ids:

Disease Ontology 12 DOID:4501
MeSH 42 D009958
UMLS 69 C0029294

Summaries for Orofaciodigital Syndrome

NIH Rare Diseases : 50 orofaciodigital syndromes refers to numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. when changes happen to many different parts of the body, this is called a syndrome. the literature reports up to thirteen types of orofaciodigital syndrome, but research is necessary to confirm and clarify all of these types. for most of the types the exact cause of the condition is unknown. click here to read this and more by visiting an information page on this topic developed by the national human genome research institute.see below for a list of orofaciodigital syndromes. these types are defined by certain symptoms or characteristics in addition to the those affecting the oral cavity, facial structures, and digits. click on the embedded links to learn more about each type: orofaciodigital syndrome 1        orofaciodigital syndrome 8  orofaciodigital syndrome 2        orofaciodigital syndrome 9orofaciodigital syndrome 3        orofaciodigital syndrome 10 orofaciodigital syndrome 4        orofaciodigital syndrome 11 orofaciodigital syndrome 5        orofaciodigital syndrome 12orofaciodigital syndrome 6        orofaciodigital syndrome 13orofaciodigital syndrome 7**now considered identical to type 1                                         last updated: 2/17/2010

MalaCards based summary : Orofaciodigital Syndrome, also known as orofaciodigital syndromes, is related to orofaciodigital syndrome i and orofaciodigital syndrome vi, and has symptoms including seizures An important gene associated with Orofaciodigital Syndrome is OFD1 (OFD1, Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and tongue, and related phenotypes are embryo and limbs/digits/tail

Disease Ontology : 12 A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has material basis in X-linked inheritance of an OFD gene.

Genetics Home Reference : 25 Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).

Related Diseases for Orofaciodigital Syndrome

Diseases in the Orofaciodigital Syndrome family:

Orofaciodigital Syndrome V Orofaciodigital Syndrome Vi
Orofaciodigital Syndrome Iv Orofaciodigital Syndrome Xiv
Orofaciodigital Syndrome I Orofaciodigital Syndrome Ix
Orofaciodigital Syndrome Xi Orofaciodigital Syndrome Viii
Orofaciodigital Syndrome Iii Orofaciodigital Syndrome X
Orofaciodigital Syndrome Vii Orofaciodigital Syndrome 12
Orofaciodigital Syndrome 13

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome i 12.4
2 orofaciodigital syndrome vi 12.3
3 orofaciodigital syndrome iv 12.2
4 orofaciodigital syndrome v 12.2
5 orofaciodigital syndrome xiv 12.1
6 orofaciodigital syndrome x 11.9
7 orofaciodigital syndrome ix 11.9
8 orofaciodigital syndrome viii 11.9
9 orofaciodigital syndrome xi 11.9
10 orofaciodigital syndrome iii 11.9
11 orofaciodigital syndrome 12 11.8
12 orofaciodigital syndrome 13 11.8
13 orofaciodigital syndrome vii 11.8
14 mohr syndrome 11.6
15 polydactyly cleft lip palate psychomotor retardation 10.9
16 sugarman brachydactyly 10.7
17 cerebellar hypoplasia 10.1
18 joubert syndrome 10 10.1 OFD1 TMEM107
19 bacillary angiomatosis 10.0 OFD1 TMEM216
20 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 10.0 OFD1 TMEM216
21 oculodentodigital dysplasia 10.0
22 dysostosis 10.0
23 intestinal schistosomiasis 10.0 C2CD3 TCTN3
24 kidney disease 9.9
25 porencephaly 9.8
26 polydactyly 9.8
27 cerebritis 9.8
28 cleft lip 9.8
29 polycystic kidney disease 9.8
30 juvenile ossifying fibroma 9.8 C2CD3 TMEM216 TMEM231
31 engelhard yatziv syndrome 9.7 TCTN3 TMEM216 TMEM231
32 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.4 C2CD3 TCTN3 TMEM107 TMEM216 TMEM231
33 epilepsy, nocturnal frontal lobe, 5 9.4 C2CD3 C5orf42 OFD1 TCTN3 TMEM216 TMEM231
34 2,4-dienoyl-coa reductase deficiency 9.3 C5orf42 KIAA0753 OFD1 TCTN3 TMEM216 TMEM231
35 breast angiosarcoma 8.6 C2CD3 C5orf42 DDX59 KIAA0753 OFD1 SCLT1

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



Diseases related to Orofaciodigital Syndrome

Symptoms & Phenotypes for Orofaciodigital Syndrome

UMLS symptoms related to Orofaciodigital Syndrome:


seizures

MGI Mouse Phenotypes related to Orofaciodigital Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.35 C2CD3 C5orf42 OFD1 TMEM107 TMEM231
2 limbs/digits/tail MP:0005371 9.02 C2CD3 C5orf42 OFD1 TMEM107 TMEM231

Drugs & Therapeutics for Orofaciodigital Syndrome

Drugs for Orofaciodigital Syndrome (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
2 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
2 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
3 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
4 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Orofaciodigital Syndrome

Genetic Tests for Orofaciodigital Syndrome

Genetic tests related to Orofaciodigital Syndrome:

id Genetic test Affiliating Genes
1 Oral-Facial-Digital Syndrome 29
2 Orofaciodigital Syndromes 29

Anatomical Context for Orofaciodigital Syndrome

MalaCards organs/tissues related to Orofaciodigital Syndrome:

39
Kidney, Eye, Tongue, Pituitary

Publications for Orofaciodigital Syndrome

Articles related to Orofaciodigital Syndrome:

(show all 39)
id Title Authors Year
1
Daughter and Mother with Orofaciodigital Syndrome Type 1 and Glomerulocystic Kidney Disease. ( 27131853 )
2016
2
TMEM107 is a Critical Regulator of Ciliary Protein Composition and is Mutated in Orofaciodigital Syndrome. ( 26518474 )
2015
3
Rare case of orofaciodigital syndrome type I. ( 23417374 )
2013
4
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. ( 23972372 )
2013
5
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability. ( 23033313 )
2013
6
Bilateral cleft lip: a potential variant form of orofaciodigital syndrome type II? ( 22705220 )
2012
7
Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals. ( 23716954 )
2012
8
Orofaciodigital syndrome. ( 22278878 )
2012
9
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. ( 18383484 )
2008
10
Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. ( 18177199 )
2007
11
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. ( 17535085 )
2007
12
Orofaciodigital syndrome with cerebral dysgenesis. ( 16502430 )
2006
13
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. ( 11438951 )
2001
14
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. ( 10422014 )
1999
15
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? ( 10051020 )
1999
16
Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease. ( 9175067 )
1997
17
Orofaciodigital syndrome I: a case report. ( 9151628 )
1996
18
Prenatal diagnosis of orofaciodigital syndrome Varadi-Papp type. ( 8887243 )
1996
19
Orofaciodigital syndrome type I in a patient with severe CNS defects. ( 8554663 )
1995
20
Prenatal diagnosis of orofaciodigital syndrome: Mohr type. ( 8551554 )
1995
21
Midline defects of the orofaciodigital syndrome type VI (VA!radi syndrome). ( 7986801 )
1994
22
Orofaciodigital syndrome type III in two sibs. ( 8230165 )
1993
23
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis. ( 1453437 )
1992
24
Renal cystic disease associated with orofaciodigital syndrome. ( 1539404 )
1992
25
Orofaciodigital syndrome type IV: report of a patient. ( 1642284 )
1992
26
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. ( 1867273 )
1991
27
A male with type I orofaciodigital syndrome. ( 1941964 )
1991
28
Variability of expression of the orofaciodigital syndrome type I in black females: six cases. ( 2063902 )
1991
29
Orofaciodigital syndrome type IV: report of a patient. ( 2929654 )
1989
30
X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. ( 3229001 )
1988
31
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. ( 3560172 )
1987
32
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. ( 3560170 )
1987
33
Orofaciodigital syndrome with mesomelic limb shortening. ( 6748015 )
1984
34
Letter: Orofaciodigital syndrome. ( 949866 )
1976
35
Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. ( 1059061 )
1975
36
Orofaciodigital syndrome II (OFD II) in brother and sister. ( 5173223 )
1971
37
Orofaciodigital syndrome I (OFD I). ( 5173222 )
1971
38
THE OROFACIODIGITAL SYNDROME. ( 14210673 )
1964
39
OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT. ( 14089819 )
1963

Variations for Orofaciodigital Syndrome

ClinVar genetic disease variations for Orofaciodigital Syndrome:

6 (show top 50) (show all 115)
id Gene Variation Type Significance SNP ID Assembly Location
1 OFD1 OFD1, 19-BP DEL, NT294 deletion Pathogenic
2 OFD1 NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg) single nucleotide variant Pathogenic rs122460150 GRCh37 Chromosome X, 13774778: 13774778
3 OFD1 NM_003611.2(OFD1): c.312delG (p.Val105Tyrfs) deletion Pathogenic rs312262822 GRCh37 Chromosome X, 13754797: 13754797
4 OFD1 NM_003611.2(OFD1): c.413-10T> G single nucleotide variant Pathogenic rs312262833 GRCh37 Chromosome X, 13762524: 13762524
5 OFD1 NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs) insertion Pathogenic rs312262886 GRCh37 Chromosome X, 13778466: 13778467
6 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh37 Chromosome X, 13778702: 13778705
7 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh37 Chromosome X, 13764932: 13764949
8 OFD1 NM_003611.2(OFD1): c.111G> A (p.Lys37=) single nucleotide variant Pathogenic rs312262808 GRCh37 Chromosome X, 13753465: 13753465
9 OFD1 NM_003611.2(OFD1): c.(?_-360)_828+?del deletion Pathogenic GRCh37 Chromosome X, 13752831: 13765072
10 OFD1 NM_003611.2(OFD1): c.(?_-311)_1542+?del deletion Pathogenic GRCh37 Chromosome X, 13752832: 13775909
11 OFD1 NM_003611.2: c.1051-2> G single nucleotide variant Pathogenic
12 OFD1 NM_003611.2(OFD1): c.1056-2A> T single nucleotide variant Pathogenic rs312262861 GRCh37 Chromosome X, 13771485: 13771485
13 OFD1 NM_003611.2: c.1056C> G single nucleotide variant Pathogenic
14 OFD1 NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) indel Pathogenic rs312262862 GRCh37 Chromosome X, 13771502: 13771509
15 OFD1 NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs312262863 GRCh37 Chromosome X, 13771530: 13771530
16 OFD1 NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln) single nucleotide variant Pathogenic rs312262864 GRCh37 Chromosome X, 13771531: 13771531
17 OFD1 NM_003611.2(OFD1): c.111+2T> C single nucleotide variant Pathogenic rs312262809 GRCh37 Chromosome X, 13753467: 13753467
18 OFD1 NM_003611.2(OFD1): c.111G> C (p.Lys37Asn) single nucleotide variant Pathogenic rs312262808 GRCh37 Chromosome X, 13753465: 13753465
19 OFD1 NM_003611.2(OFD1): c.1130-22_1130-19delAATT deletion Pathogenic rs312262865 GRCh37 Chromosome X, 13773248: 13773251
20 OFD1 NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs) duplication Pathogenic rs312262866 GRCh37 Chromosome X, 13773318: 13773318
21 OFD1 NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs) deletion Pathogenic rs312262867 GRCh37 Chromosome X, 13773325: 13773325
22 OFD1 NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs) deletion Pathogenic rs312262868 GRCh37 Chromosome X, 13773333: 13773336
23 OFD1 NM_003611.2(OFD1): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs312262810 GRCh37 Chromosome X, 13754606: 13754606
24 OFD1 NM_003611.2(OFD1): c.1220_1221+1delAGG deletion Pathogenic rs312262869 GRCh37 Chromosome X, 13773360: 13773362
25 OFD1 NM_003611.2(OFD1): c.1221+1delG deletion Pathogenic rs312262870 GRCh37 Chromosome X, 13773362: 13773362
26 OFD1 NM_003611.2(OFD1): c.1222-?_(*_?)del deletion Pathogenic
27 OFD1 NM_003611.2(OFD1): c.1268_1272delAAAAC (p.Gln423Profs) deletion Pathogenic rs312262871 GRCh37 Chromosome X, 13774743: 13774747
28 OFD1 NM_003611.2(OFD1): c.1318delC (p.Leu440Terfs) deletion Pathogenic rs312262872 GRCh37 Chromosome X, 13774793: 13774793
29 OFD1 NM_003611.2(OFD1): c.1319delT (p.Leu440Glnfs) deletion Pathogenic rs312262873 GRCh37 Chromosome X, 13774794: 13774794
30 OFD1 NM_003611.2(OFD1): c.1322_1326delAAGAA (p.Lys441Argfs) deletion Pathogenic rs312262874 GRCh37 Chromosome X, 13774797: 13774801
31 OFD1 NM_003611.2(OFD1): c.1323_1326delAGAA (p.Glu442Argfs) deletion Pathogenic rs312262875 GRCh37 Chromosome X, 13774798: 13774801
32 OFD1 NM_003611.2(OFD1): c.1334_1335delTG (p.Leu445Argfs) deletion Pathogenic rs312262876 GRCh37 Chromosome X, 13774809: 13774810
33 OFD1 NM_003611.2(OFD1): c.1358T> A (p.Leu453Ter) single nucleotide variant Pathogenic rs312262877 GRCh37 Chromosome X, 13774833: 13774833
34 OFD1 NM_003611.2(OFD1): c.1360_1363delCTTA (p.Leu454Asnfs) deletion Pathogenic rs312262878 GRCh37 Chromosome X, 13774835: 13774838
35 OFD1 NM_003611.2(OFD1): c.1409delA (p.Asn470Thrfs) deletion Pathogenic rs312262879 GRCh37 Chromosome X, 13774884: 13774884
36 OFD1 NM_003611.2(OFD1): c.1420C> T (p.Gln474Ter) single nucleotide variant Pathogenic rs312262880 GRCh37 Chromosome X, 13775787: 13775787
37 OFD1 NM_003611.2(OFD1): c.1445_1446delTT (p.Phe482Serfs) deletion Pathogenic rs312262881 GRCh37 Chromosome X, 13775812: 13775813
38 OFD1 NM_003611.2(OFD1): c.1452_1458delAGAACTA (p.Lys484Asnfs) deletion Pathogenic rs312262882 GRCh37 Chromosome X, 13775819: 13775825
39 OFD1 NM_003611.2(OFD1): c.1587delA (p.Ala530Leufs) deletion Pathogenic rs312262883 GRCh37 Chromosome X, 13776500: 13776500
40 OFD1 NM_003611.2(OFD1): c.162_166delTGGAG (p.Ser54Argfs) deletion Pathogenic rs312262811 GRCh37 Chromosome X, 13754647: 13754651
41 OFD1 NM_003611.2(OFD1): c.1757delG (p.Ser586Metfs) deletion Pathogenic rs312262884 GRCh37 Chromosome X, 13778336: 13778336
42 OFD1 NM_003611.2(OFD1): c.1821delG (p.Ile608Serfs) deletion Pathogenic rs312262885 GRCh37 Chromosome X, 13778400: 13778400
43 OFD1 NM_003611.2(OFD1): c.1979_1980delCT (p.Ser660Cysfs) deletion Pathogenic rs312262887 GRCh37 Chromosome X, 13778558: 13778559
44 OFD1 NM_003611.2(OFD1): c.2044dupA (p.Ile682Asnfs) duplication Pathogenic rs312262888 GRCh37 Chromosome X, 13778623: 13778623
45 OFD1 NM_003611.2(OFD1): c.2056delT (p.Ser686Profs) deletion Pathogenic rs312262889 GRCh37 Chromosome X, 13778635: 13778635
46 OFD1 NM_003611.2(OFD1): c.2176delC (p.Arg726Alafs) deletion Pathogenic rs312262891 GRCh37 Chromosome X, 13778755: 13778755
47 OFD1 NM_003611.2(OFD1): c.221C> T (p.Ser74Phe) single nucleotide variant Pathogenic rs312262812 GRCh37 Chromosome X, 13754706: 13754706
48 OFD1 NM_003611.2(OFD1): c.224A> C (p.Asn75Thr) single nucleotide variant Pathogenic rs312262813 GRCh37 Chromosome X, 13754709: 13754709
49 OFD1 NM_003611.2(OFD1): c.2261-1G> T single nucleotide variant Pathogenic rs312262892 GRCh37 Chromosome X, 13779203: 13779203
50 OFD1 NM_003611.2(OFD1): c.2261-?_2387+?del deletion Pathogenic GRCh37 Chromosome X, 13779204: 13779330

Expression for Orofaciodigital Syndrome

Search GEO for disease gene expression data for Orofaciodigital Syndrome.

Pathways for Orofaciodigital Syndrome

GO Terms for Orofaciodigital Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.83 C2CD3 KIAA0753 OFD1 SCLT1 TMEM216
2 cell projection GO:0042995 9.72 C2CD3 C5orf42 OFD1 TMEM216 TMEM231
3 centrosome GO:0005813 9.71 C2CD3 KIAA0753 OFD1 SCLT1
4 cilium GO:0005929 9.56 C5orf42 OFD1 TMEM216 TMEM231
5 ciliary membrane GO:0060170 9.46 TCTN3 TMEM231
6 MKS complex GO:0036038 9.37 TMEM216 TMEM231
7 centriolar satellite GO:0034451 9.33 C2CD3 KIAA0753 OFD1
8 centriole GO:0005814 9.26 C2CD3 KIAA0753 OFD1 SCLT1
9 ciliary transition zone GO:0035869 8.92 C5orf42 TMEM107 TMEM216 TMEM231

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

id Name GO ID Score Top Affiliating Genes
1 ciliary basal body docking GO:0097711 9.55 C2CD3 OFD1 SCLT1 TCTN3 TMEM216
2 embryonic digit morphogenesis GO:0042733 9.5 C2CD3 C5orf42 TMEM107
3 cell projection organization GO:0030030 9.5 C2CD3 C5orf42 OFD1 TCTN3 TMEM107 TMEM216
4 smoothened signaling pathway GO:0007224 9.46 TCTN3 TMEM231
5 non-motile cilium assembly GO:1905515 9.43 C2CD3 TMEM107
6 protein localization to centrosome GO:0071539 9.4 C2CD3 KIAA0753
7 centriole replication GO:0007099 9.37 KIAA0753 OFD1
8 protein localization to ciliary transition zone GO:1904491 9.26 C5orf42 TMEM107
9 cilium assembly GO:0060271 9.23 C2CD3 C5orf42 OFD1 SCLT1 TCTN3 TMEM107

Sources for Orofaciodigital Syndrome

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
Content
Loading form....