MCID: ORF037
MIFTS: 48

Orofaciodigital Syndrome I

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

Aliases & Classifications for Orofaciodigital Syndrome I

MalaCards integrated aliases for Orofaciodigital Syndrome I:

Name: Orofaciodigital Syndrome I 57 12 24 53 75 15 73
Ofd1 57 24 53 75
Oral-Facial-Digital Syndrome, Type I 57 75 55
Oral-Facial-Digital Syndrome 1 53 75 13
Orofaciodigital Syndrome 1 12 53 75
Papillon-Leage and Psaume Syndrome 57 75
Orofaciodigital Syndromes 44 73
Ofds I 57 75
Oral-Facial-Digital Syndrome Type I 24
Oral Facial Digital Syndrome Type 1 53
Oral-Facial-Digital Syndrome Type 1 53
Orofaciodigital Syndrome, Type I 40
Orofaciodigital Syndrome Type I 12
Orofaciodigital Syndrome Type 1 73
Papillon-Leage-Psaume Syndrome 12
Oral Facial Digital Syndrome 1 53
Ofd Syndrome 1 53
Ofds 1 53

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant

Miscellaneous:
lethal in males


HPO:

32
orofaciodigital syndrome i:
Onset and clinical course congenital onset
Inheritance x-linked dominant inheritance


GeneReviews:

24
Penetrance Ofd1 appears to be highly penetrant, although highly variable in expression. in some reports, renal cysts are the only apparent manifestation in affected females [mclaughlin et al 2000]...

Classifications:



Summaries for Orofaciodigital Syndrome I

NIH Rare Diseases : 53 Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.

MalaCards based summary : Orofaciodigital Syndrome I, also known as ofd1, is related to orofaciodigital syndrome v and orofaciodigital syndrome, and has symptoms including seizures An important gene associated with Orofaciodigital Syndrome I is OFD1 (OFD1, Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drugs Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, tongue and liver, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has material basis in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.

OMIM : 57 Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001). Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010). (311200)

UniProtKB/Swiss-Prot : 75 Orofaciodigital syndrome 1: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy- Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys.

Wikipedia : 76 Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked... more...

GeneReviews: NBK1188

Related Diseases for Orofaciodigital Syndrome I

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



Diseases related to Orofaciodigital Syndrome I

Symptoms & Phenotypes for Orofaciodigital Syndrome I

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthus
telecanthus
downslanting palpebral fissures

Head And Neck Face:
frontal bossing
microretrognathia
facial asymmetry
hypoplasia of the malar bones

Neurologic Central Nervous System:
hydrocephalus
seizures
porencephaly
hypothalamic hamartoma
arachnoid cysts
more
Growth Height:
short stature

Abdomen Liver:
hepatic fibrosis
fibrocystic liver (45%)
dilatation and beading of the intrahepatic bile ducts

Head And Neck Nose:
broad nasal bridge
hypoplastic alar cartilage

Genitourinary Internal Genitalia Female:
ovarian cysts

Abdomen Pancreas:
pancreatic cysts (29%)

Skeletal Feet:
polydactyly, preaxial or postaxial (rare)
abnormalities of the toes (25%)
duplication of the hallux

Neurologic Behavioral Psychiatric Manifestations:
major depression (rare)

Head And Neck Ears:
low-set ears
hearing loss

Skeletal Hands:
clinodactyly
brachydactyly
syndactyly
abnormalities of the fingers (45%)
polydactyly, preaxial or postaxial (rare)
more
Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
high-arched palate
thickened alveolar ridges
hyperplastic oral frenuli
buccal frenuli
more
Skin Nails Hair Hair:
alopecia
dry, rough, sparse hair

Head And Neck Teeth:
enamel hypoplasia
supernumerary teeth
dental caries
missing teeth
anomalous anterior teeth

Cardiovascular Heart:
cardiac anomalies

Genitourinary Kidneys:
adult onset polycystic kidney (50%)

Skin Nails Hair Skin:
milia of upper face and ears (infancy)
dry scalp

Laboratory Abnormalities:
abnormal liver enzymes in those with hepatic cysts or fibrosis
proteinuria in those with cystic kidneys


Clinical features from OMIM:

311200

Human phenotypes related to Orofaciodigital Syndrome I:

32 (show top 50) (show all 86)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 hallmark (90%) HP:0000316
2 low-set ears 32 HP:0000369
3 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
4 frontal bossing 32 hallmark (90%) HP:0002007
5 finger syndactyly 32 frequent (33%) HP:0006101
6 clinodactyly 32 HP:0030084
7 high palate 32 hallmark (90%) HP:0000218
8 hydrocephalus 32 HP:0000238
9 hypertension 32 occasional (7.5%) HP:0000822
10 intellectual disability 32 frequent (33%) HP:0001249
11 seizures 32 frequent (33%) HP:0001250
12 ataxia 32 frequent (33%) HP:0001251
13 tremor 32 occasional (7.5%) HP:0001337
14 hearing impairment 32 occasional (7.5%) HP:0000365
15 chronic otitis media 32 occasional (7.5%) HP:0000389
16 open bite 32 occasional (7.5%) HP:0010807
17 wide nasal bridge 32 hallmark (90%) HP:0000431
18 carious teeth 32 HP:0000670
19 microcephaly 32 HP:0000252
20 coarse hair 32 occasional (7.5%) HP:0002208
21 short stature 32 HP:0004322
22 renal insufficiency 32 occasional (7.5%) HP:0000083
23 proteinuria 32 occasional (7.5%) HP:0000093
24 cleft palate 32 frequent (33%) HP:0000175
25 micrognathia 32 occasional (7.5%) HP:0000347
26 cone-shaped epiphysis 32 frequent (33%) HP:0010579
27 broad alveolar ridges 32 hallmark (90%) HP:0000187
28 epicanthus 32 occasional (7.5%) HP:0000286
29 reduced bone mineral density 32 frequent (33%) HP:0004349
30 dry skin 32 occasional (7.5%) HP:0000958
31 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
32 hepatic fibrosis 32 HP:0001395
33 alopecia 32 occasional (7.5%) HP:0001596
34 short toe 32 frequent (33%) HP:0001831
35 dystonia 32 occasional (7.5%) HP:0001332
36 exocrine pancreatic insufficiency 32 occasional (7.5%) HP:0001738
37 underdeveloped nasal alae 32 frequent (33%) HP:0000430
38 telecanthus 32 occasional (7.5%) HP:0000506
39 clinodactyly of the 5th finger 32 frequent (33%) HP:0004209
40 multicystic kidney dysplasia 32 occasional (7.5%) HP:0000003
41 polycystic kidney dysplasia 32 HP:0000113
42 pancreatic cysts 32 very rare (1%) HP:0001737
43 hepatic cysts 32 HP:0001407
44 downslanted palpebral fissures 32 frequent (33%) HP:0000494
45 increased number of teeth 32 HP:0011069
46 brachydactyly 32 occasional (7.5%) HP:0001156
47 abnormality of dental enamel 32 occasional (7.5%) HP:0000682
48 choanal atresia 32 occasional (7.5%) HP:0000453
49 foot polydactyly 32 frequent (33%) HP:0001829
50 odontogenic neoplasm 32 occasional (7.5%) HP:0100612

UMLS symptoms related to Orofaciodigital Syndrome I:


seizures

MGI Mouse Phenotypes related to Orofaciodigital Syndrome I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 CEP290 CLPS IFT88 OFD1

Drugs & Therapeutics for Orofaciodigital Syndrome I

Drugs for Orofaciodigital Syndrome I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 I

Cochrane evidence based reviews: orofaciodigital syndromes

Genetic Tests for Orofaciodigital Syndrome I

Anatomical Context for Orofaciodigital Syndrome I

MalaCards organs/tissues related to Orofaciodigital Syndrome I:

41
Kidney, Tongue, Liver, Brain, Pancreas, Bone, Cerebellum

Publications for Orofaciodigital Syndrome I

Articles related to Orofaciodigital Syndrome I:

# Title Authors Year
1
Orofaciodigital syndrome I: a case report. ( 9151628 )
1996
2
Orofaciodigital syndrome I (OFD I). ( 5173222 )
1971

Variations for Orofaciodigital Syndrome I

UniProtKB/Swiss-Prot genetic disease variations for Orofaciodigital Syndrome I:

75
# Symbol AA change Variation ID SNP ID
1 OFD1 p.Ser435Arg VAR_013754 rs122460150
2 OFD1 p.Ser74Phe VAR_015574 rs312262812
3 OFD1 p.Ala79Thr VAR_030789 rs312262814
4 OFD1 p.Gly138Ser VAR_058758 rs312262827
5 OFD1 p.Met141Arg VAR_069100 rs886039860

ClinVar genetic disease variations for Orofaciodigital Syndrome I:

6
(show top 50) (show all 316)
# Gene Variation Type Significance SNP ID Assembly Location
1 OFD1 NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg) single nucleotide variant Pathogenic rs122460150 GRCh37 Chromosome X, 13774778: 13774778
2 OFD1 NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg) single nucleotide variant Pathogenic rs122460150 GRCh38 Chromosome X, 13756659: 13756659
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.312delG (p.Val105Tyrfs) deletion Pathogenic rs312262822 GRCh38 Chromosome X, 13736678: 13736678
5 OFD1 OFD1, 19-BP DEL, NT294 deletion Pathogenic
6 OFD1 NM_003611.2(OFD1): c.413-10T> G single nucleotide variant Pathogenic rs312262833 GRCh37 Chromosome X, 13762524: 13762524
7 OFD1 NM_003611.2(OFD1): c.413-10T> G single nucleotide variant Pathogenic rs312262833 GRCh38 Chromosome X, 13744405: 13744405
8 OFD1 NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs) insertion Pathogenic rs312262886 GRCh37 Chromosome X, 13778466: 13778467
9 OFD1 NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs) insertion Pathogenic rs312262886 GRCh38 Chromosome X, 13760347: 13760348
10 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh37 Chromosome X, 13778702: 13778705
11 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh38 Chromosome X, 13760583: 13760586
12 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh37 Chromosome X, 13764932: 13764949
13 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh38 Chromosome X, 13746813: 13746830
14 OFD1 NM_003611.2(OFD1): c.(?_-360)_828+?del deletion Pathogenic GRCh37 Chromosome X, 13752831: 13765072
15 OFD1 NM_003611.2(OFD1): c.(?_-360)_828+?del deletion Pathogenic GRCh38 Chromosome X, 13734712: 13746953
16 OFD1 NM_003611.2(OFD1): c.(?_-311)_1542+?del deletion Pathogenic GRCh37 Chromosome X, 13752832: 13775909
17 OFD1 NM_003611.2(OFD1): c.(?_-311)_1542+?del deletion Pathogenic GRCh38 Chromosome X, 13734713: 13757790
18 OFD1 NM_003611.2: c.1051-2> G single nucleotide variant Pathogenic
19 OFD1 NM_003611.2(OFD1): c.1056-2A> T single nucleotide variant Pathogenic rs312262861 GRCh37 Chromosome X, 13771485: 13771485
20 OFD1 NM_003611.2(OFD1): c.1056-2A> T single nucleotide variant Pathogenic rs312262861 GRCh38 Chromosome X, 13753366: 13753366
21 OFD1 NM_003611.2: c.1056C> G single nucleotide variant Pathogenic
22 OFD1 NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) indel Pathogenic rs312262862 GRCh37 Chromosome X, 13771502: 13771509
23 OFD1 NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) indel Pathogenic rs312262862 GRCh38 Chromosome X, 13753383: 13753390
24 OFD1 NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs312262863 GRCh37 Chromosome X, 13771530: 13771530
25 OFD1 NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs312262863 GRCh38 Chromosome X, 13753411: 13753411
26 OFD1 NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln) single nucleotide variant Pathogenic rs312262864 GRCh37 Chromosome X, 13771531: 13771531
27 OFD1 NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln) single nucleotide variant Pathogenic rs312262864 GRCh38 Chromosome X, 13753412: 13753412
28 OFD1 NM_003611.2(OFD1): c.111+2T> C single nucleotide variant Pathogenic rs312262809 GRCh37 Chromosome X, 13753467: 13753467
29 OFD1 NM_003611.2(OFD1): c.111+2T> C single nucleotide variant Pathogenic rs312262809 GRCh38 Chromosome X, 13735348: 13735348
30 OFD1 NM_003611.2(OFD1): c.111G> A (p.Lys37=) single nucleotide variant Pathogenic rs312262808 GRCh37 Chromosome X, 13753465: 13753465
31 OFD1 NM_003611.2(OFD1): c.111G> A (p.Lys37=) single nucleotide variant Pathogenic rs312262808 GRCh38 Chromosome X, 13735346: 13735346
32 OFD1 NM_003611.2(OFD1): c.111G> C (p.Lys37Asn) single nucleotide variant Pathogenic rs312262808 GRCh37 Chromosome X, 13753465: 13753465
33 OFD1 NM_003611.2(OFD1): c.111G> C (p.Lys37Asn) single nucleotide variant Pathogenic rs312262808 GRCh38 Chromosome X, 13735346: 13735346
34 OFD1 NM_003611.2(OFD1): c.1130-22_1130-19delAATT deletion Pathogenic rs312262865 GRCh37 Chromosome X, 13773248: 13773251
35 OFD1 NM_003611.2(OFD1): c.1130-22_1130-19delAATT deletion Pathogenic rs312262865 GRCh38 Chromosome X, 13755129: 13755132
36 OFD1 NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs) duplication Pathogenic rs312262866 GRCh37 Chromosome X, 13773318: 13773318
37 OFD1 NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs) duplication Pathogenic rs312262866 GRCh38 Chromosome X, 13755199: 13755199
38 OFD1 NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs) deletion Pathogenic rs312262867 GRCh37 Chromosome X, 13773325: 13773325
39 OFD1 NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs) deletion Pathogenic rs312262867 GRCh38 Chromosome X, 13755206: 13755206
40 OFD1 NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs) deletion Pathogenic rs312262868 GRCh37 Chromosome X, 13773333: 13773336
41 OFD1 NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs) deletion Pathogenic rs312262868 GRCh38 Chromosome X, 13755214: 13755217
42 OFD1 NM_003611.2(OFD1): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs312262810 GRCh37 Chromosome X, 13754606: 13754606
43 OFD1 NM_003611.2(OFD1): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs312262810 GRCh38 Chromosome X, 13736487: 13736487
44 OFD1 NM_003611.2(OFD1): c.1220_1221+1delAGG deletion Pathogenic rs312262869 GRCh37 Chromosome X, 13773360: 13773362
45 OFD1 NM_003611.2(OFD1): c.1220_1221+1delAGG deletion Pathogenic rs312262869 GRCh38 Chromosome X, 13755241: 13755243
46 OFD1 NM_003611.2(OFD1): c.1221+1delG deletion Pathogenic rs312262870 GRCh37 Chromosome X, 13773362: 13773362
47 OFD1 NM_003611.2(OFD1): c.1221+1delG deletion Pathogenic rs312262870 GRCh38 Chromosome X, 13755243: 13755243
48 OFD1 NM_003611.2(OFD1): c.1222-?_(*_?)del deletion Pathogenic
49 OFD1 NM_003611.2(OFD1): c.1268_1272delAAAAC (p.Gln423Profs) deletion Pathogenic rs312262871 GRCh37 Chromosome X, 13774743: 13774747
50 OFD1 NM_003611.2(OFD1): c.1268_1272delAAAAC (p.Gln423Profs) deletion Pathogenic rs312262871 GRCh38 Chromosome X, 13756624: 13756628

Expression for Orofaciodigital Syndrome I

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

Pathways for Orofaciodigital Syndrome I

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 CEP290 IFT88 OFD1

GO Terms for Orofaciodigital Syndrome I

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.71 CEP290 IFT88 OFD1 RPGR
2 cell projection GO:0042995 9.62 CEP290 IFT88 OFD1 RPGR
3 centrosome GO:0005813 9.61 CEP290 OFD1 RPGR
4 microtubule organizing center GO:0005815 9.54 CEP290 OFD1 RPGR
5 centriole GO:0005814 9.33 CEP290 IFT88 OFD1
6 centriolar satellite GO:0034451 9.26 CEP290 OFD1
7 cilium GO:0005929 9.26 CEP290 IFT88 OFD1 RPGR
8 ciliary basal body GO:0036064 8.92 CEP290 IFT88 OFD1 RPGR

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

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.32 CEP290 OFD1
2 ciliary basal body-plasma membrane docking GO:0097711 9.26 CEP290 OFD1
3 cilium assembly GO:0060271 9.26 CEP290 IFT88 OFD1 RPGR
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 CEP290 OFD1
5 cell projection organization GO:0030030 8.92 CEP290 IFT88 OFD1 RPGR

Sources for Orofaciodigital Syndrome I

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