MCID: FRS014
MIFTS: 51

Fraser Syndrome 1

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Fraser Syndrome 1

MalaCards integrated aliases for Fraser Syndrome 1:

Name: Fraser Syndrome 1 53 71
Fraser Syndrome 53 12 72 49 24 36 13 51 41 14
Cryptophthalmos with Other Malformations 53 12 49 24
Cryptophthalmos Syndrome 49 24 28 69
Cryptophthalmos-Syndactyly Syndrome 53 49
Fraser-Francois Syndrome 49 24
Frasrs1 53 71
Cryptophthalmos Syndactyly Syndrome 24
Meyer-Schwickerath's Syndrome 49
Meyer-Schwickerath Syndrome 24
Ullrich-Feichtiger Syndrome 24
Ulrich-Feichtiger Syndrome 49
Fraser's Syndrome 24
Cyclopism 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
twenty-five percent of affected babies are stillborn
20% die before age one (usually secondary to renal or laryngeal defects)


HPO:

31
fraser syndrome 1:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fraser Syndrome 1

NIH Rare Diseases : 49 Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Signs and symptoms occur early in development and may also include abnormalities of the respiratory tract, specifically involving the larynx (voice box) and trachea (windpipe); failure of kidney development affecting one or both kidneys (renal agenesis); umbilical hernia; abnormalities of the nose and ear; cleft lip and palate; skeletal abnormalities; and intellectual disability. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth. Less severely affected individuals can live into childhood or adulthood.  Fraser syndrome is caused by mutations in three different genes: FRAS1, GRIP1, and FREM2 and is inherited in an autosomal recessive manner. This condition is diagnosed based on signs and symptoms. Genetic testing may be useful to confirm the diagnosis. While there is no cure for Fraser syndrome, there may be ways to manage symptoms, depending on the severity. A team of doctors is often needed to figure out the treatment options for each person.  Last updated: 12/7/2016

MalaCards based summary : Fraser Syndrome 1, also known as fraser syndrome, is related to branchiootorenal syndrome and cryptophthalmos, and has symptoms including hypertelorism, low-set ears and finger syndactyly. An important gene associated with Fraser Syndrome 1 is FRAS1 (Fraser Extracellular Matrix Complex Subunit 1). Affiliated tissues include skin, kidney and testes, and related phenotypes are renal/urinary system and limbs/digits/tail

OMIM : 53 Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). (219000)

UniProtKB/Swiss-Prot : 71 Fraser syndrome 1: A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.

Genetics Home Reference : 24 Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood.

Disease Ontology : 12 An autosomal recessive disorder characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has material basis in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.

Wikipedia : 72 Fraser syndrome (also known as Meyer-Schwickerath\'s syndrome, Fraser-François syndrome, or... more...

Related Diseases for Fraser Syndrome 1

Diseases in the Fraser-Like Syndrome family:

Fraser Syndrome 1 Fraser Syndrome 2
Fraser Syndrome 3

Diseases related to Fraser Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 32.0 EYA1 SIX5
2 cryptophthalmos 31.7 FRAS1 FREM1 FREM2 GRIP1
3 chromosome 2q35 duplication syndrome 29.3 FRAS1 FREM1 FREM2 GRIP1 HOXD11
4 renal hypodysplasia/aplasia 1 27.9 EYA1 FRAS1 FREM1 FREM2 FREM3 GRIP1
5 fraser syndrome 3 12.3
6 fraser syndrome 2 12.2
7 sanderson fraser syndrome 11.9
8 branchiootorenal syndrome 1 11.5
9 oculodentodigital dysplasia 11.3
10 vaginal atresia 11.2
11 branchiootorenal/branchiootic syndrome 11.2
12 gnathomiasis 11.0
13 bifid nose with or without anorectal and renal anomalies 10.9
14 microphthalmia, syndromic 9 10.3 FRAS1 FREM2
15 laryngitis 10.1
16 renal agenesis, unilateral 10.1 FRAS1 FREM1 FREM2
17 holoprosencephaly 10.0
18 diaphragmatic hernia, congenital 10.0 FRAS1 FREM1 FREM2
19 branchiooculofacial syndrome 9.9 EYA1 SIX5
20 ablepharon-macrostomia syndrome 9.9 FRAS1 FREM2
21 polykaryocytosis inducer 9.9
22 lacrimal duct obstruction 9.9 EYA1 SIX5
23 dracunculiasis 9.9
24 iniencephaly 9.9
25 alobar holoprosencephaly 9.9
26 deafness, autosomal dominant 10 9.9 EYA1 SIX5
27 branchiootic syndrome 9.8 EYA1 SIX5
28 branchiootic syndrome 1 9.8
29 urethritis 9.8
30 vaginitis 9.8
31 ovarian cyst 9.8
32 encephalocele 9.8
33 cytomegalovirus infection 9.8
34 frontal encephalocele 9.8
35 atresia of urethra 9.8

Graphical network of the top 20 diseases related to Fraser Syndrome 1:



Diseases related to Fraser Syndrome 1

Symptoms & Phenotypes for Fraser Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
blindness
cryptophthalmos
absent or malformed lacrimal ducts

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Internal Genitalia Female:
bicornuate uterus
vaginal atresia

Skeletal Limbs:
syndactyly

Chest Breasts:
widely spaced nipples

Genitourinary External Genitalia Female:
clitoral enlargement

Head And Neck Nose:
hypoplastic, notched nares
broad, low nasal bridge
midline nasal cleavage

Abdomen External Features:
umbilical anomaly

Skeletal Pelvis:
diastasis of symphysis pubis

Neurologic Central Nervous System:
microcephaly
encephalocele
mental retardation
meningomyelocele

Genitourinary Internal Genitalia Male:
cryptorchidism
hypospadias

Respiratory Larynx:
laryngeal stenosis
laryngeal atresia

Head And Neck Ears:
conductive hearing loss
middle ear malformations
external ear malformations

Genitourinary External Genitalia Male:
small penis

Head And Neck Face:
unusual hairline with hair growth on temples extending to lateral eyebrow

Head And Neck Teeth:
teeth crowding

Genitourinary Kidneys:
renal agenesis/hypoplasia

Skin Nails Hair Hair:
unusual hairline


Clinical features from OMIM:

219000

Human phenotypes related to Fraser Syndrome 1:

31 (show top 50) (show all 87)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 frequent (33%) HP:0000316
2 low-set ears 31 HP:0000369
3 finger syndactyly 31 hallmark (90%) HP:0006101
4 high palate 31 occasional (7.5%) HP:0000218
5 hydrocephalus 31 HP:0000238
6 intellectual disability 31 occasional (7.5%) HP:0001249
7 dental malocclusion 31 frequent (33%) HP:0000689
8 depressed nasal bridge 31 frequent (33%) HP:0005280
9 corneal opacity 31 HP:0007957
10 wide nasal bridge 31 frequent (33%) HP:0000431
11 umbilical hernia 31 occasional (7.5%) HP:0001537
12 microcephaly 31 occasional (7.5%) HP:0000252
13 blindness 31 hallmark (90%) HP:0000618
14 cleft palate 31 HP:0000175
15 cryptorchidism 31 occasional (7.5%) HP:0000028
16 wide intermamillary distance 31 occasional (7.5%) HP:0006610
17 external ear malformation 31 frequent (33%) HP:0008572
18 renal hypoplasia/aplasia 31 HP:0008678
19 abnormality of the pinna 31 HP:0000377
20 underdeveloped nasal alae 31 occasional (7.5%) HP:0000430
21 microphthalmia 31 frequent (33%) HP:0000568
22 hypospadias 31 occasional (7.5%) HP:0000047
23 multicystic kidney dysplasia 31 hallmark (90%) HP:0000003
24 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
25 dental crowding 31 frequent (33%) HP:0000678
26 conductive hearing impairment 31 occasional (7.5%) HP:0000405
27 anal atresia 31 frequent (33%) HP:0002023
28 renal hypoplasia 31 hallmark (90%) HP:0000089
29 hypoplasia of penis 31 frequent (33%) HP:0008736
30 abnormal hair pattern 31 occasional (7.5%) HP:0010720
31 tracheal stenosis 31 occasional (7.5%) HP:0002777
32 vertebral segmentation defect 31 occasional (7.5%) HP:0003422
33 female pseudohermaphroditism 31 frequent (33%) HP:0010458
34 ambiguous genitalia 31 frequent (33%) HP:0000062
35 cutaneous finger syndactyly 31 HP:0010554
36 toe syndactyly 31 frequent (33%) HP:0001770
37 cleft upper lip 31 occasional (7.5%) HP:0000204
38 atresia of the external auditory canal 31 occasional (7.5%) HP:0000413
39 wide nose 31 HP:0000445
40 urethral atresia 31 occasional (7.5%) HP:0000068
41 anophthalmia 31 frequent (33%) HP:0000528
42 encephalocele 31 occasional (7.5%) HP:0002084
43 omphalocele 31 occasional (7.5%) HP:0001539
44 ectopic anus 31 occasional (7.5%) HP:0004397
45 aplasia/hypoplasia of the thumb 31 HP:0009601
46 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
47 scrotal hypoplasia 31 frequent (33%) HP:0000046
48 absent eyelashes 31 HP:0000561
49 facial cleft 31 HP:0002006
50 abnormal lung lobation 31 occasional (7.5%) HP:0002101

MGI Mouse Phenotypes related to Fraser Syndrome 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.86 EYA1 FRAS1 FREM1 FREM2 GRIP1 HOXD11
2 limbs/digits/tail MP:0005371 9.72 FREM1 FREM2 GRIP1 HOXD11 FRAS1
3 respiratory system MP:0005388 9.55 EYA1 FRAS1 FREM1 FREM2 ITGA8
4 skeleton MP:0005390 9.43 EYA1 FRAS1 FREM1 FREM2 HOXD11 ITGA8
5 vision/eye MP:0005391 9.1 EYA1 FRAS1 FREM1 FREM2 GRIP1 SIX5

Drugs & Therapeutics for Fraser Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877

Search NIH Clinical Center for Fraser Syndrome 1

Cochrane evidence based reviews: fraser syndrome

Genetic Tests for Fraser Syndrome 1

Genetic tests related to Fraser Syndrome 1:

# Genetic test Affiliating Genes
1 Cryptophthalmos Syndrome 28 FRAS1 FREM2 GRIP1

Anatomical Context for Fraser Syndrome 1

MalaCards organs/tissues related to Fraser Syndrome 1:

38
Skin, Kidney, Testes, Eye, Trachea, Tongue, T Cells

Publications for Fraser Syndrome 1

Articles related to Fraser Syndrome 1:

(show top 50) (show all 106)
# Title Authors Year
1
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. ( 27624506 )
2016
2
Fraser Syndrome - a Case Report and Review of Literature. ( 28465758 )
2016
3
Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing - report of a novel homozygous missense FRAS1 mutation. ( 27341656 )
2016
4
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. ( 27859469 )
2016
5
Fraser Syndrome. ( 26522198 )
2015
6
A novel mutation in the FRAS1 gene in a patient with Fraser syndrome. ( 26043503 )
2015
7
Prenatal diagnosis of Fraser syndrome: a matter of life or death? ( 26552811 )
2015
8
Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome. ( 25811163 )
2015
9
Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature. ( 26384833 )
2015
10
Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. ( 26267579 )
2015
11
Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics. ( 25230075 )
2014
12
Vaginal atresia in a case of fraser syndrome. ( 25404827 )
2014
13
Fraser syndrome-oral manifestations and a dental care protocol. ( 25587460 )
2014
14
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. ( 24700879 )
2014
15
Fraser syndrome due to mutations in GRIP1-Clinical phenotype in two families and expansion of the mutation spectrum. ( 24357607 )
2013
16
Fraser syndrome: epidemiological study in a European population. ( 23532946 )
2013
17
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. ( 23473829 )
2013
18
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. ( 24551978 )
2013
19
Anesthetic management in a case of Fraser syndrome. ( 23717248 )
2013
20
Expression of Fraser syndrome genes in normal and polycystic murine kidneys. ( 21993971 )
2012
21
Basement membrane assembly of the integrin I+8I^1 ligand nephronectin requires Fraser syndrome-associated proteins. ( 22613833 )
2012
22
Mutations in GRIP1 cause Fraser syndrome. ( 22510445 )
2012
23
Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. ( 23064016 )
2012
24
Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele. ( 22730198 )
2012
25
MRI findings of intracranial malformations in a case with Fraser syndrome. ( 22827970 )
2012
26
Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling. ( 22029163 )
2011
27
Fused pulmonary lobes is a rat model of human Fraser syndrome. ( 21756877 )
2011
28
Fraser syndrome in three consecutive siblings. ( 21897626 )
2011
29
Case report: hypodontia and short roots in a child with Fraser syndrome. ( 21806907 )
2011
30
Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. ( 20419147 )
2010
31
A surgical strategy for the correction of Fraser syndrome cryptophthalmos. ( 19643480 )
2009
32
The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. ( 18661360 )
2008
33
Fraser syndrome. ( 19065328 )
2008
34
Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy. ( 17990920 )
2008
35
The presence of bilateral hip dysplasia and genu valgum in Fraser syndrome. ( 19292157 )
2008
36
Fraser syndrome due to homozygosity for a splice site mutation of FREM2. ( 18203166 )
2008
37
Quiz page April 2008: deafness, preauricular pits, and renal failure. BOR syndrome or Melnick-Fraser syndrome. ( 18371523 )
2008
38
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. ( 18787044 )
2008
39
Molecular study of 33 families with Fraser syndrome new data and mutation review. ( 18671281 )
2008
40
Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome. ( 18083592 )
2008
41
Fraser syndrome with partial anomalous pulmonary venous connection. ( 18599943 )
2008
42
Fraser syndrome: a new case report with review of the literature. ( 18568997 )
2008
43
Fraser syndrome. ( 18603689 )
2008
44
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. ( 18000968 )
2007
45
Intrafamilial variability in Fraser syndrome. ( 17546704 )
2007
46
Fraser syndrome: recurrence in a family. ( 18175849 )
2007
47
Recurrent Fraser syndrome. ( 17266165 )
2007
48
Clinical manifestations and oral findings in Fraser syndrome. ( 18482521 )
2007
49
Noncompaction in Melnick Fraser syndrome. ( 17669095 )
2007
50
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. ( 16880404 )
2006

Variations for Fraser Syndrome 1

ClinVar genetic disease variations for Fraser Syndrome 1:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 FRAS1 NM_025074.6(FRAS1): c.1931delG (p.Gly644Valfs) deletion Pathogenic rs794727195 GRCh37 Chromosome 4, 79238633: 79238633
2 FRAS1 NM_025074.6(FRAS1): c.2722+1G> A single nucleotide variant Pathogenic rs794727365 GRCh37 Chromosome 4, 79285209: 79285209
3 FRAS1 NM_025074.6(FRAS1): c.3370dupT (p.Ser1124Phefs) duplication Pathogenic rs797044696 GRCh37 Chromosome 4, 79300957: 79300957
4 FRAS1 NM_025074.6(FRAS1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs377046630 GRCh37 Chromosome 4, 79173606: 79173606
5 FRAS1 NM_025074.6(FRAS1): c.9806G> A (p.Arg3269Gln) single nucleotide variant risk factor rs61729366 GRCh37 Chromosome 4, 79432453: 79432453
6 FRAS1 NM_025074.6(FRAS1): c.8602C> T (p.Gln2868Ter) single nucleotide variant Pathogenic rs120074156 GRCh37 Chromosome 4, 79403116: 79403116
7 FRAS1 NM_025074.6(FRAS1): c.9013C> T (p.Gln3005Ter) single nucleotide variant Pathogenic rs120074157 GRCh37 Chromosome 4, 79418013: 79418013
8 FRAS1 FRAS1, 1-BP INS, 5605T insertion Pathogenic
9 FRAS1 NM_025074.6(FRAS1): c.3799C> T (p.Gln1267Ter) single nucleotide variant Pathogenic rs120074158 GRCh37 Chromosome 4, 79308679: 79308679
10 FRAS1 NM_025074.6(FRAS1): c.4271C> G (p.Ser1424Ter) single nucleotide variant Pathogenic rs120074159 GRCh37 Chromosome 4, 79328958: 79328958
11 FRAS1 NM_025074.6(FRAS1): c.5419_5424delTTCTCT (p.Phe1807_Ser1808del) deletion Pathogenic rs730882178 GRCh37 Chromosome 4, 79360108: 79360113
12 FRAS1 NM_025074.6(FRAS1): c.6963_6964dupGG (p.Val2322Glyfs) duplication Pathogenic rs730882179 GRCh37 Chromosome 4, 79385671: 79385672
13 FRAS1 NM_025074.6(FRAS1): c.7522+1G> T single nucleotide variant Pathogenic rs730882180 GRCh37 Chromosome 4, 79393485: 79393485
14 FRAS1 NM_025074.6(FRAS1): c.5664_5665+19delinsT indel Pathogenic rs886037766 GRCh38 Chromosome 4, 78441296: 78441316
15 FRAS1 NM_025074.6(FRAS1): c.10287delC (p.Tyr3429Terfs) deletion Pathogenic rs886037765 GRCh38 Chromosome 4, 78515911: 78515911
16 FRAS1 NM_025074.6(FRAS1): c.7551T> A (p.Tyr2517Ter) single nucleotide variant Pathogenic rs745597204 GRCh38 Chromosome 4, 78473466: 78473466
17 FREM2 NM_207361.5(FREM2): c.5954dupT (p.Met1985Ilefs) duplication Pathogenic rs886043213 GRCh37 Chromosome 13, 39358880: 39358880
18 FREM2 NM_207361.5(FREM2): c.4031G> A (p.Arg1344His) single nucleotide variant risk factor rs143044921 GRCh38 Chromosome 13, 38691375: 38691375
19 FRAS1 NM_025074.6(FRAS1): c.2719C> T (p.Gln907Ter) single nucleotide variant Pathogenic rs755750961 GRCh38 Chromosome 4, 78364051: 78364051

Expression for Fraser Syndrome 1

Search GEO for disease gene expression data for Fraser Syndrome 1.

Pathways for Fraser Syndrome 1

GO Terms for Fraser Syndrome 1

Cellular components related to Fraser Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.56 FRAS1 FREM3 HMCN1 NPNT
2 proteinaceous extracellular matrix GO:0005578 9.46 FREM1 FREM3 HMCN1 NPNT
3 basement membrane GO:0005604 9.1 FRAS1 FREM1 FREM2 FREM3 HMCN1 NPNT
4 integrin alpha8-beta1 complex GO:0034678 8.96 ITGA8 NPNT

Biological processes related to Fraser Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.72 FREM1 FREM2 FREM3 ITGA8 NPNT
2 cell-matrix adhesion GO:0007160 9.54 FREM1 ITGA8 NPNT
3 inner ear morphogenesis GO:0042472 9.51 EYA1 ITGA8
4 multicellular organism development GO:0007275 9.5 EYA1 FREM1 FREM2 HOXD11 ITGA8 NPNT
5 ureteric bud development GO:0001657 9.49 EYA1 NPNT
6 establishment of protein localization GO:0045184 9.48 ITGA8 NPNT
7 metanephros development GO:0001656 9.46 EYA1 ITGA8
8 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.43 ITGA8 NPNT
9 branching involved in ureteric bud morphogenesis GO:0001658 9.43 EYA1 HOXD11 NPNT
10 morphogenesis of an epithelium GO:0002009 9.4 FRAS1 FREM2
11 positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation GO:2000721 9.16 ITGA8 NPNT
12 cell communication GO:0007154 8.92 FRAS1 FREM1 FREM2 FREM3

Sources for Fraser Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
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54 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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