MCID: FRY006
MIFTS: 52

Fryns Microphthalmia Syndrome

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Fryns Microphthalmia Syndrome

MalaCards integrated aliases for Fryns Microphthalmia Syndrome:

Name: Fryns Microphthalmia Syndrome 57 20 58
Anophthalmia 73 29 54 6
Microphthalmia with Facial Clefting 57 20 58
Anophthalmia Plus Syndrome 20 58 70
Leichtman Wood Rohn Syndrome 20 70
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 20
Fryns Anophthalmia Syndrome 20
Anophthalmia-Plus Syndrome 57

Characteristics:

Orphanet epidemiological data:

58
anophthalmia plus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fryns microphthalmia syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 600776
MESH via Orphanet 45 C537767
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1833339
Orphanet 58 ORPHA1104
MedGen 41 C1833339
UMLS 70 C1833339 C2931390

Summaries for Fryns Microphthalmia Syndrome

GARD : 20 Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect, midline abdominal wall defects, clinodactyly, eye colobomas and congenital glaucoma. It has been suggested that APS is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified.

MalaCards based summary : Fryns Microphthalmia Syndrome, also known as anophthalmia, is related to microphthalmia, syndromic 3 and microphthalmia, isolated 3. An important gene associated with Fryns Microphthalmia Syndrome is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, brain and pituitary, and related phenotypes are anophthalmia and hypertelorism

Wikipedia : 73 Anophthalmia, (Greek: ανόφθαλμος, "without eye"), is the medical term for the absence of one or both... more...

More information from OMIM: 600776

Related Diseases for Fryns Microphthalmia Syndrome

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

(show top 50) (show all 273)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 31.8 VSX2 SOX2 PAX6 OTX2
2 microphthalmia, isolated 3 30.9 VSX2 SOX2 PAX6 OTX2
3 colobomatous microphthalmia 30.9 VSX2 PAX6 OTX2 HESX1
4 microphthalmia, isolated 2 30.8 VSX2 SOX2 PAX6 OTX2
5 microphthalmia, syndromic 8 30.6 VSX2 SOX2 PAX6 OTX2
6 isolated microphthalmia 30.0 VSX2 OTX2
7 pituitary hypoplasia 29.9 OTX2 HESX1
8 pathologic nystagmus 29.7 PAX6 OTX2
9 charge syndrome 29.7 SOX2 OTX2
10 anterior segment dysgenesis 29.6 VSX2 PAX6 OTX2
11 pituitary hormone deficiency, combined, 2 29.5 OTX2 HESX1
12 cataract 29.4 VSX2 SOX2 PAX6 OTX2
13 syndromic microphthalmia 29.2 VSX2 SOX2 PAX6 OTX2
14 nanophthalmos 29.2 VSX2 PAX6 OTX2
15 hypopituitarism 29.2 SOX2 OTX2 HESX1
16 microphthalmia 29.0 VSX2 SOX2 PAX6 OTX2 HESX1
17 aniridia 1 28.9 VSX2 SOX2 PAX6 OTX2
18 optic nerve hypoplasia, bilateral 28.9 VSX2 PAX6 OTX2 HESX1
19 isolated growth hormone deficiency 28.9 PAX6 OTX2 HESX1
20 septooptic dysplasia 28.8 SOX2 PAX6 OTX2 HESX1
21 holoprosencephaly 28.8 SOX2 PAX6 OTX2 HESX1
22 periventricular nodular heterotopia 28.8 PAX6 HESX1
23 fundus dystrophy 28.7 VSX2 SOX2 PAX6 OTX2
24 coloboma of macula 28.5 VSX2 SOX2 PAX6 OTX2 HESX1
25 microphthalmia, syndromic 9 11.7
26 microphthalmia with limb anomalies 11.6
27 microphthalmia, syndromic 6 11.5
28 microphthalmia, syndromic 5 11.5
29 anophthalmos with limb anomalies 11.4
30 microphthalmia, syndromic 1 11.3
31 focal dermal hypoplasia 11.1
32 microphthalmia, isolated 1 11.1
33 anophthalmia megalocornea cardiopathy skeletal anomalies 11.1
34 manitoba oculotrichoanal syndrome 11.1
35 microphthalmia, syndromic 2 11.0
36 microphthalmia, syndromic 12 11.0
37 linear skin defects with multiple congenital anomalies 1 11.0
38 microphthalmia, syndromic 13 11.0
39 bosma arhinia microphthalmia syndrome 11.0
40 microphthalmia, syndromic 11 11.0
41 microphthalmia, isolated, with coloboma 9 11.0
42 microphthalmia/coloboma and skeletal dysplasia syndrome 11.0
43 syndromic microphthalmia-anophthalmia-coloboma 10.9
44 anophthalmia cleft palate micrognathia 10.9
45 anophthalmia esophageal atresia cryptorchidism 10.9
46 microphthalmia, isolated 4 10.9
47 arroyo garcia cimadevilla syndrome 10.9
48 samson viljoen syndrome 10.9
49 fraser syndrome 1 10.9
50 oculomaxillofacial dysostosis 10.9

Graphical network of the top 20 diseases related to Fryns Microphthalmia Syndrome:



Diseases related to Fryns Microphthalmia Syndrome

Symptoms & Phenotypes for Fryns Microphthalmia Syndrome

Human phenotypes related to Fryns Microphthalmia Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 abnormal nasal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005105
4 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
5 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
6 facial cleft 58 31 frequent (33%) Frequent (79-30%) HP:0002006
7 bilateral cleft lip and palate 58 31 frequent (33%) Frequent (79-30%) HP:0002744
8 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
9 aplasia/hypoplasia of the earlobes 58 31 occasional (7.5%) Occasional (29-5%) HP:0009906
10 spina bifida 58 31 occasional (7.5%) Occasional (29-5%) HP:0002414
11 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
12 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
13 deviation of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004097
14 eyelid coloboma 31 occasional (7.5%) HP:0000625
15 macrotia 31 HP:0000400
16 cleft palate 58 Frequent (79-30%)
17 microphthalmia 31 HP:0000568
18 cleft eyelid 58 Occasional (29-5%)
19 abnormality of the vertebral column 31 HP:0000925
20 non-midline cleft lip 58 Frequent (79-30%)
21 abnormality of the genitourinary system 31 HP:0000119
22 abnormality of the ear 31 HP:0000598
23 neural tube defect 31 HP:0045005

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Ears:
macrotia
absent ear lobule

Mouth:
bilateral cleft lip/palate

Spine:
open sacral neural tube defect

Eyes:
bilateral anophthalmia

Facies:
bilateral lateral facial cleft

G U:
uterus unicornis

Clinical features from OMIM®:

600776 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Fryns Microphthalmia Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.83 HESX1 OTX2 PAX6 SOX2 VSX2
2 craniofacial MP:0005382 9.78 HESX1 OTX2 PAX6 SOX2
3 nervous system MP:0003631 9.77 HESX1 OTX2 PAX6 SOX2 VSX2
4 embryo MP:0005380 9.76 HESX1 OTX2 PAX6 SOX2
5 hearing/vestibular/ear MP:0005377 9.71 HESX1 OTX2 PAX6 SOX2
6 normal MP:0002873 9.62 HESX1 OTX2 PAX6 SOX2
7 pigmentation MP:0001186 9.56 OTX2 PAX6 SOX2 VSX2
8 respiratory system MP:0005388 9.46 HESX1 OTX2 PAX6 SOX2
9 taste/olfaction MP:0005394 9.26 HESX1 OTX2 PAX6 SOX2
10 vision/eye MP:0005391 9.02 HESX1 OTX2 PAX6 SOX2 VSX2

Drugs & Therapeutics for Fryns Microphthalmia Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders Completed NCT00011843

Search NIH Clinical Center for Fryns Microphthalmia Syndrome

Genetic Tests for Fryns Microphthalmia Syndrome

Genetic tests related to Fryns Microphthalmia Syndrome:

# Genetic test Affiliating Genes
1 Anophthalmia 29

Anatomical Context for Fryns Microphthalmia Syndrome

MalaCards organs/tissues related to Fryns Microphthalmia Syndrome:

40
Eye, Brain, Pituitary, Retina, Heart, Bone, Cortex

Publications for Fryns Microphthalmia Syndrome

Articles related to Fryns Microphthalmia Syndrome:

(show top 50) (show all 960)
# Title Authors PMID Year
1
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 6 61
29178648 2017
2
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. 61 57
18564500 2008
3
Anophthalmia-plus syndrome: a clinical report and review of the literature. 61 57
17152069 2007
4
A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. 61 57
16080293 2005
5
Fryns "Anophthalmia-Plus" syndrome associated with developmental regression. 57 61
12514364 2003
6
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. 61 57
9375920 1997
7
Apparently new "anophthalmia-plus" syndrome in sibs. 61 57
8533799 1995
8
Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect. 61 57
8160751 1994
9
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 61 54
20396904 2010
10
Novel SOX2 partner-factor domain mutation in a four-generation family. 54 61
19471311 2009
11
Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. 54 61
19397404 2009
12
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. 54 61
18628516 2008
13
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 54 61
18285410 2008
14
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. 61 54
18385377 2008
15
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 61 54
18385794 2008
16
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. 54 61
17522144 2007
17
Anophthalmia and microphthalmia. 61 54
18039390 2007
18
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 61 54
17661825 2007
19
Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. 61 54
16892407 2006
20
SOX2 is a dose-dependent regulator of retinal neural progenitor competence. 61 54
16651659 2006
21
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. 54 61
15503273 2004
22
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 61 54
15257456 2004
23
HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. 54 61
10626545 1999
24
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. 54 61
7951315 1994
25
Ubiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine. 61
33573910 2021
26
New insights into the obligatory nature of cyclooxygenase-2 and PGE2 during early chick embryogenesis. 61
33454433 2021
27
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. 61
33749989 2021
28
The UK National Artificial Eye Questionnaire Study: predictors of artificial eye wearers' experience Part 2 - visual function and quality of life. 61
33649575 2021
29
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease. 61
32728807 2021
30
SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family. 61
33108933 2021
31
Eye Conformers as Socket Expanders in Children: Experience at a Tertiary Eye Hospital in Central Saudi Arabia. 61
33777554 2021
32
Issues of rehabilitation of the patients with symblepharon using oral mucosal autografts. 61
33074375 2021
33
[Isolated congenital anophthalmia and microphthalmia: Report of 3 cases]. 61
33341290 2021
34
The Impact of an Ocular Prosthesis on the Quality of Life, Perceived Stress, and Clinical Adaptation of Anophthalmic Patients: A Clinical and Longitudinal Trial. 61
33464687 2021
35
A Dynamic Costal Cartilage Platform Promotes Ocular Prosthetic Excursion: Preliminary Report. 61
33564583 2021
36
Functional Role of the RNA-Binding Protein Rbm24a and Its Target sox2 in Microphthalmia. 61
33494192 2021
37
Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner. 61
33111437 2021
38
Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature. 61
33491151 2021
39
A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate. 61
32394010 2021
40
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma. 61
32737437 2021
41
De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf. 61
33388042 2021
42
The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development. 61
32594240 2020
43
Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management. 61
32436650 2020
44
Treatment of pathological fractures due to brown tumours in a patient with hyperparathyroidism and lack of parafibromin expression - A case report. 61
33204800 2020
45
A COMPREHENSIVE ASSESSMENT OF CO-OCCURRING BIRTH DEFECTS AMONG INFANTS WITH NON-SYNDROMIC ANOPHTHALMIA OR MICROPHTHALMIA. 61
33345678 2020
46
Visual function and quality of life in children and adolescents with anophthalmia and microphthalmia treated with ocular prosthesis. 61
32356375 2020
47
Ocular Injury Presenting to a Level-III Pediatric Trauma Center. 61
29912087 2020
48
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report. 61
33218365 2020
49
Compound heterozygous splicing CDON variants result in isolated ocular coloboma. 61
32729136 2020
50
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. 61
32799327 2020

Variations for Fryns Microphthalmia Syndrome

ClinVar genetic disease variations for Fryns Microphthalmia Syndrome:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTX2 NM_021728.4(OTX2):c.296C>A (p.Ala99Asp) SNV Pathogenic 430900 rs1555350254 GRCh37: 14:57269051-57269051
GRCh38: 14:56802333-56802333
2 VSX2 NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) SNV Pathogenic 14862 rs121912545 GRCh37: 14:74726404-74726404
GRCh38: 14:74259701-74259701
3 PAX6 , ELP4 NM_019040.5(ELP4):c.*3859G>A SNV Uncertain significance 304323 rs886048190 GRCh37: 11:31808931-31808931
GRCh38: 11:31787383-31787383
4 LOC106014249 , PAX6 NM_000280.4(PAX6):c.-501del Deletion Uncertain significance 304368 rs886048208 GRCh37: 11:31832847-31832847
GRCh38: 11:31811299-31811299
5 PAX6 , ELP4 NM_019040.5(ELP4):c.*4023C>A SNV Uncertain significance 304330 rs886048194 GRCh37: 11:31809095-31809095
GRCh38: 11:31787547-31787547
6 TBX18 GRCh37/hg19 6q14.3(chr6:85220808-85517846)x3 copy number gain Uncertain significance 813842 GRCh37: 6:85220808-85517846
GRCh38:
7 overlap with 2 genes GRCh37/hg19 4p11(chr4:48784236-48907733)x3 copy number gain Uncertain significance 813840 GRCh37: 4:48784236-48907733
GRCh38:
8 SEMA5A GRCh37/hg19 5p15.31(chr5:7952706-9108420)x1 copy number loss Uncertain significance 813841 GRCh37: 5:7952706-9108420
GRCh38:
9 PAX6 NM_000280.4(PAX6):c.-147_-146dup Duplication Uncertain significance 304363 rs886048205 GRCh37: 11:31832392-31832393
GRCh38: 11:31810844-31810845
10 PAX6 , ELP4 NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG Indel Uncertain significance 304290 rs886048180 GRCh37: 11:31806561-31806563
GRCh38: 11:31785013-31785015
11 ELP4 , PAX6 NM_019040.5(ELP4):c.*6227dup Duplication Uncertain significance 304354 rs886048200 GRCh37: 11:31811298-31811299
GRCh38: 11:31789750-31789751
12 PAX6 , ELP4 NM_019040.5(ELP4):c.*3703_*3705del Deletion Uncertain significance 304320 rs886048189 GRCh37: 11:31808775-31808777
GRCh38: 11:31787227-31787229
13 ELP4 , PAX6 NM_019040.5(ELP4):c.*6067del Deletion Uncertain significance 304349 rs200391530 GRCh37: 11:31811126-31811126
GRCh38: 11:31789578-31789578
14 PAX6 , ELP4 NM_019040.5(ELP4):c.*2710_*2711CA[2] Microsatellite Uncertain significance 304306 rs886048186 GRCh37: 11:31807781-31807782
GRCh38: 11:31786233-31786234
15 PAX6 , ELP4 NM_019040.5(ELP4):c.*3523del Deletion Uncertain significance 304318 rs886048188 GRCh37: 11:31808595-31808595
GRCh38: 11:31787047-31787047
16 PAX6 , ELP4 NM_019040.5(ELP4):c.*3164_*3165insAAAA Insertion Benign 304309 rs34919147 GRCh37: 11:31808235-31808236
GRCh38: 11:31786687-31786688
17 PAX6 , ELP4 NM_019040.5(ELP4):c.*3514_*3517dup Duplication Benign 304317 rs397795797 GRCh37: 11:31808585-31808586
GRCh38: 11:31787037-31787038
18 PAX6 , ELP4 NM_019040.5(ELP4):c.*2673_*2674del Deletion Benign 304305 rs141022497 GRCh37: 11:31807745-31807746
GRCh38: 11:31786197-31786198

Expression for Fryns Microphthalmia Syndrome

Search GEO for disease gene expression data for Fryns Microphthalmia Syndrome.

Pathways for Fryns Microphthalmia Syndrome

GO Terms for Fryns Microphthalmia Syndrome

Cellular components related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 VSX2 SOX2 PAX6 OTX2 HESX1

Biological processes related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.81 VSX2 PAX6 OTX2 HESX1
2 positive regulation of transcription, DNA-templated GO:0045893 9.71 SOX2 PAX6 OTX2
3 regulation of transcription, DNA-templated GO:0006355 9.65 VSX2 SOX2 PAX6 OTX2 HESX1
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.62 VSX2 SOX2 PAX6 HESX1
5 multicellular organism development GO:0007275 9.55 VSX2 SOX2 PAX6 OTX2 HESX1
6 response to wounding GO:0009611 9.52 SOX2 PAX6
7 cell fate commitment GO:0045165 9.49 SOX2 PAX6
8 negative regulation of epithelial cell proliferation GO:0050680 9.48 SOX2 PAX6
9 camera-type eye development GO:0043010 9.46 PAX6 HESX1
10 negative regulation of neuron differentiation GO:0045665 9.43 SOX2 PAX6
11 eye development GO:0001654 9.4 SOX2 PAX6
12 gene expression GO:0010467 9.37 PAX6 HESX1
13 pituitary gland development GO:0021983 9.13 SOX2 PAX6 HESX1
14 forebrain development GO:0030900 8.92 SOX2 PAX6 OTX2 HESX1

Molecular functions related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 SOX2 PAX6 OTX2 HESX1
2 DNA-binding transcription factor activity GO:0003700 9.58 SOX2 PAX6 OTX2
3 DNA binding GO:0003677 9.55 VSX2 SOX2 PAX6 OTX2 HESX1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.54 SOX2 PAX6 OTX2
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.43 VSX2 PAX6 HESX1
6 sequence-specific double-stranded DNA binding GO:1990837 9.26 VSX2 PAX6 OTX2 HESX1
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 VSX2 SOX2 PAX6 OTX2 HESX1

Sources for Fryns Microphthalmia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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