PFVS
MCID: PRS062
MIFTS: 44

Persistent Hyperplastic Primary Vitreous (PFVS)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

MalaCards integrated aliases for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 12 58 36 29 43 15
Non-Syndromic Congenital Retinal Non-Attachment 58
Persistent Fetal Vasculature Syndrome 58
Congenital Retinal Detachment 58
Ncrna Disease 58
Pfvs 58
Phpv 58

Characteristics:

Orphanet epidemiological data:

58
persistent hyperplastic primary vitreous
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060282
KEGG 36 H02112
MeSH 43 D054514
SNOMED-CT 67 44647001 69927002
MESH via Orphanet 44 D054514
ICD10 via Orphanet 33 Q14.0
UMLS via Orphanet 72 C0266568 C1857299
Orphanet 58 ORPHA91495
UMLS 71 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

KEGG : 36 Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. PHPV typically presents unilaterally without association with systemic findings, but sometimes PHPV may be associated with rare systemic syndromes. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait.

MalaCards based summary : Persistent Hyperplastic Primary Vitreous, also known as non-syndromic congenital retinal non-attachment, is related to persistent hyperplastic primary vitreous, autosomal recessive and retinal detachment. An important gene associated with Persistent Hyperplastic Primary Vitreous is ATOH7 (Atonal BHLH Transcription Factor 7), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Signaling by Wnt. Affiliated tissues include eye, bone and retina, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.

Wikipedia : 74 Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), is a... more...

Related Diseases for Persistent Hyperplastic Primary Vitreous

Diseases in the Persistent Hyperplastic Primary Vitreous family:

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Persistent Hyperplastic Primary Vitreous, Autosomal Dominant

Diseases related to Persistent Hyperplastic Primary Vitreous via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous, autosomal recessive 35.4 TSPAN12 ATOH7
2 retinal detachment 31.4 TSPAN12 NDP LRP5 FZD4 ATOH7
3 leukocoria 31.2 VSX2 TSPAN12 NDP LRP5 FZD4
4 cataract 31.1 VSX2 PITX2 PAX6 OTX2 FOXC1 ATOH7
5 intraocular pressure quantitative trait locus 30.8 PITX2 PAX6 FOXC1
6 vitreoretinopathy 30.8 TSPAN12 NDP LRP5 FZD4
7 coats disease 30.8 TSPAN12 NDP LRP5 FZD4
8 exudative vitreoretinopathy 1 30.8 TSPAN12 NDP LRP5 FZD4
9 norrie disease 30.7 WNT7B TSPAN12 NDP LRP5 FZD4
10 axenfeld-rieger syndrome 30.7 PITX2 PAX6 FOXC1
11 sclerocornea 30.7 PITX2 PAX6 FOXC1
12 peters-plus syndrome 30.7 VSX2 PITX2 PAX6 FOXC1
13 anterior segment dysgenesis 30.6 PITX2 PAX6 FOXC1
14 osteoporosis-pseudoglioma syndrome 30.6 NDP LRP5 FZD4
15 retinal vascular disease 30.5 TSPAN12 NDP LRP5 FZD4
16 eye disease 30.4 VSX2 PITX2 PAX6 OTX2 NDP FOXC1
17 exudative vitreoretinopathy 30.3 WNT7B TSPAN12 NDP LRP5 FZD5 FZD4
18 coloboma of macula 30.2 VSX2 PITX2 PAX6 OTX2 FZD5 FOXC1
19 microphthalmia 30.2 WNT7B VSX2 SKI PITX2 PAX6 OTX2
20 persistent hyperplastic primary vitreous, autosomal dominant 13.0
21 oculopalatocerebral syndrome 11.9
22 suppression amblyopia 10.7
23 amblyopia 10.7
24 retinoblastoma 10.6
25 familial retinoblastoma 10.6
26 isolated aniridia 10.5 PAX6 FOXC1
27 coloboma of eyelid 10.5 PAX6 FZD5
28 coloboma of eye lens 10.5 PAX6 FZD5
29 retinal telangiectasia 10.5 TSPAN12 NDP FZD4
30 eye degenerative disease 10.4 TSPAN12 NDP FZD4
31 acquired color blindness 10.4 PITX2 PAX6 FOXC1
32 hydrophthalmos 10.4 PITX2 PAX6 FOXC1
33 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
34 axenfeld-rieger syndrome, type 1 10.4 PITX2 PAX6 FOXC1
35 juvenile glaucoma 10.4 PITX2 PAX6 FOXC1
36 uveitis 10.4
37 axenfeld-rieger syndrome, type 3 10.4 PITX2 PAX6 FOXC1
38 intestinal atresia 10.4 PITX2 PAX6 FOXC1
39 primary congenital glaucoma 10.4 PITX2 PAX6 FOXC1
40 vitreous disease 10.4 PAX6 OTX2 NDP
41 strabismus 10.4
42 yemenite deaf-blind hypopigmentation syndrome 10.4
43 mechanical strabismus 10.4
44 fryns microphthalmia syndrome 10.3 VSX2 PAX6 OTX2
45 microphthalmia, isolated 3 10.3 VSX2 PAX6 OTX2
46 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.3 PITX2 PAX6 FOXC1
47 glaucoma 3, primary congenital, a 10.3 PITX2 PAX6 FOXC1
48 microphthalmia, isolated 2 10.3 VSX2 PAX6 OTX2
49 aicardi syndrome 10.3
50 posterior polar cataract 10.3

Graphical network of the top 20 diseases related to Persistent Hyperplastic Primary Vitreous:



Diseases related to Persistent Hyperplastic Primary Vitreous

Symptoms & Phenotypes for Persistent Hyperplastic Primary Vitreous

GenomeRNAi Phenotypes related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

26 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.37 CALM2
2 Decreased viability GR00221-A-1 10.37 CALM2 CDKN2A SKI
3 Decreased viability GR00221-A-2 10.37 CALM2
4 Decreased viability GR00221-A-3 10.37 CDKN2A
5 Decreased viability GR00221-A-4 10.37 CALM2 CDKN2A SKI
6 Decreased viability GR00240-S-1 10.37 RABAC1
7 Decreased viability GR00301-A 10.37 CALM2
8 Decreased viability GR00381-A-1 10.37 CADPS2 SPPL2B
9 Decreased viability GR00402-S-2 10.37 ATOH7 CADPS2 CALM2 CDKN2A COPS2 FOXC1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 ATOH7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.09 VSX2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.09 ATOH7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.09 OTX2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.09 SKI
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 VSX2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.09 SKI
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.09 OTX2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 ATOH7
19 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.09 OTX2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.09 ATOH7
21 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.09 OTX2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.09 OTX2 SKI VSX2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.09 SKI
24 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.09 VSX2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.09 ATOH7
26 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.09 SKI
27 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.09 SKI
28 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.09 ATOH7 OTX2 SKI VSX2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.09 VSX2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.09 SKI
31 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.09 OTX2
32 no effect GR00402-S-1 9.62 ATOH7 CADPS2 CALM2 CDKN2A COPS2 FOXC1

MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ATOH7 CDKN2A FOXC1 FZD4 FZD5 LRP5
2 cellular MP:0005384 10.29 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 FZD5
3 behavior/neurological MP:0005386 10.25 ATOH7 CADPS2 CDKN2A FZD4 FZD5 LRP5
4 nervous system MP:0003631 10.17 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 FZD5
5 embryo MP:0005380 10.13 CDKN2A FOXC1 FZD4 FZD5 LRP5 OTX2
6 endocrine/exocrine gland MP:0005379 10.1 CADPS2 CDKN2A FOXC1 FZD4 FZD5 LRP5
7 digestive/alimentary MP:0005381 10 CDKN2A FOXC1 FZD4 FZD5 OTX2 PAX6
8 muscle MP:0005369 9.91 CDKN2A FOXC1 FZD4 OTX2 PAX6 PITX2
9 pigmentation MP:0001186 9.91 CDKN2A FOXC1 FZD4 LRP5 NDP OTX2
10 reproductive system MP:0005389 9.85 ATOH7 CDKN2A FOXC1 FZD4 FZD5 NDP
11 skeleton MP:0005390 9.61 CDKN2A FOXC1 LRP5 NDP OTX2 PAX6
12 vision/eye MP:0005391 9.47 ATOH7 CDKN2A FOXC1 FZD4 FZD5 LRP5

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Surgical Treatment and Prognosis of Congenital Cataract With Persistent Fetal Vasculature Recruiting NCT03341624

Search NIH Clinical Center for Persistent Hyperplastic Primary Vitreous

Cochrane evidence based reviews: persistent hyperplastic primary vitreous

Genetic Tests for Persistent Hyperplastic Primary Vitreous

Genetic tests related to Persistent Hyperplastic Primary Vitreous:

# Genetic test Affiliating Genes
1 Persistent Hyperplastic Primary Vitreous 29

Anatomical Context for Persistent Hyperplastic Primary Vitreous

MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

40
Eye, Bone, Retina, Brain, Adipocyte, Skin, Pituitary

Publications for Persistent Hyperplastic Primary Vitreous

Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50) (show all 397)
# Title Authors PMID Year
1
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 61 6
22645276 2012
2
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous. 61 6
11527934 2001
3
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 6
22068589 2012
4
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. 6
21474777 2011
5
Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. 6
21441919 2011
6
High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population. 6
9677055 1998
7
A rare case of binocular persistent hyperplastic primary vitreous (PHPV) in a pregnant woman during two consecutive pregnancies. 61
31960951 2020
8
Plasma renin activity and aldosterone concentration in dogs with acquired portosystemic collaterals. 61
31729111 2020
9
Oculo-skeletal dysplasia in five Labrador Retrievers. 61
31595625 2019
10
Modulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease. 61
31462148 2019
11
Neogenin-loss in neural crest cells results in persistent hyperplastic primary vitreous formation. 61
31336386 2019
12
Regression of fetal vasculature and visual improvement in nonsurgical persistent hyperplastic primary vitreous: a case report. 61
31349817 2019
13
Myelinated retinal nerve fibers and persistent hyperplastic primary vitreous. 61
31124528 2019
14
Assessment and Characterization of Hyaloid Vessels in Mice. 61
31157789 2019
15
In vivo detecting mouse persistent hyperplastic primary vitreous by Spectralis Optical Coherence Tomography. 61
30817926 2019
16
Persistent hyperplastic primary vitreous in two piglets. 61
30643102 2019
17
The analysis of posterior segment findings in term and premature infants using RetCam images. 61
28780616 2018
18
[Bilateral posterior persistent hyperplastic primary vitreous]. 61
29079879 2018
19
Multiple acquired portosystemic shunts secondary to primary hypoplasia of the portal vein in a cat. 61
29628453 2018
20
VITRECTOMY FOR PHACOANAPHYLACTIC GLAUCOMA SECONDARY TO POSTERIOR CAPSULAR RUPTURE IN AN ADULT WITH PERSISTENT HYPERPLASTIC PRIMARY VITREOUS. 61
29554053 2018
21
Prenatal diagnosis of bilateral persistent hyperplastic primary vitreous: A case report. 61
29673626 2018
22
Morning glory syndrome with Moyamoya disease: A rare association with role of imaging. 61
30050238 2018
23
Prenatal Ultrasonographic Diagnosis of Cataract: In Utero Manifestations of Cryptic Disease. 61
28002851 2018
24
Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous. 61
28967071 2018
25
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. 61
28008699 2018
26
Osseous and Adipocytic Differentiations in the Intraocular Lens and Vitreous. 61
29191662 2018
27
Persistent hyperplastic primary vitreous (PHPV). 61
29031676 2017
28
[Rare causes of childhood leukocoria]. 61
28893456 2017
29
Bilateral Persistent Hyperplastic Primary Vitreous - A Rare Case Report. 61
29207745 2017
30
Portal Vein/Aorta Ratio in Dogs with Acquired Portosystemic Collaterals. 61
28804949 2017
31
[Ultrasound Manifestations of Eyes of Pediatric Patients with Morning Glory Syndrome]. 61
28752984 2017
32
Clinical Features of Congenital and Developmental Cataract in East China: A Five-year Retrospective Review. 61
28652574 2017
33
Washout Ratio in the Hepatic Vein Measured by Contrast-Enhanced Ultrasonography to Distinguish Between Inflammatory and Noninflammatory Hepatic Disorders in Dogs. 61
28382699 2017
34
Accuracy of self-collected human papillomavirus samples from Japanese women with abnormal cervical cytology. 61
28418208 2017
35
Intra-ocular medulloepithelioma as a masquerade for PHPV and Panophthalmitis: a Diagnostic Dilemma. 61
28559724 2017
36
The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period. 61
27073021 2017
37
Prevalence and geographical distribution of Papio hamadryas papillomavirus 1 (PhPV1) in Kenyan baboons. 61
27726166 2017
38
Clinicopathological Findings and Prognosis in Canine Cases Diagnosed As Primary Hypoplasia of the Portal Vein. 61
29312965 2017
39
Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous. 61
28393030 2017
40
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. 61
28154792 2017
41
Early Postnatal Hyperoxia in Mice Leads to Severe Persistent Vitreoretinopathy. 61
27918825 2016
42
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. 61
27896282 2016
43
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. 61
27582535 2016
44
Congenital cataract associated with persistent hyperplastic primary vitreous and persistent tunica vasculosa lentis in a sambar deer (Rusa unicolor) - clinical, ultrasonographic, and histological findings. 61
27386118 2016
45
Developmental regression of hyaloid vasculature is triggered by neurons. 61
27325890 2016
46
[Apply of RetCam Ⅱ and color Doppler imaging in persistent hyperplastic primary vitreous]. 61
27220710 2016
47
Mice Homozygous for a Deletion in the Glaucoma Susceptibility Locus INK4 Show Increased Vulnerability of Retinal Ganglion Cells to Elevated Intraocular Pressure. 61
26883755 2016
48
Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous. 61
26484646 2016
49
p19(Arf) limits primary vitreous cell proliferation driven by PDGF-B. 61
26778750 2016
50
Potential blindness in children of patients with hereditary bone disease. 61
26243358 2016

Variations for Persistent Hyperplastic Primary Vitreous

Expression for Persistent Hyperplastic Primary Vitreous

Search GEO for disease gene expression data for Persistent Hyperplastic Primary Vitreous.

Pathways for Persistent Hyperplastic Primary Vitreous

Pathways related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 WNT7B FZD5 FZD4 CDKN2A CALM2
2
Show member pathways
12.68 WNT7B LRP5 FZD5 FZD4 CALM2
3
Show member pathways
12.54 WNT7B LRP5 FZD5 FZD4 CDKN2A
4 12.46 WNT7B LRP5 FZD5 FZD4 CDKN2A CALM2
5
Show member pathways
12.36 WNT7B LRP5 FZD5 FZD4
6
Show member pathways
12.3 WNT7B LRP5 FZD5 FZD4
7 12.21 WNT7B LRP5 FZD5 FZD4
8
Show member pathways
12.2 WNT7B FZD5 FZD4 CALM2
9
Show member pathways
11.96 WNT7B LRP5 FZD5 FZD4
10
Show member pathways
11.91 PITX2 PAX6 OTX2 FZD5 FZD4 FOXC1
11 11.89 WNT7B LRP5 FZD5 FZD4
12 11.78 FZD5 FZD4 CDKN2A
13 11.77 WNT7B PAX6 FZD5 FZD4
14 11.43 PAX6 FZD5 FZD4
15 11.39 WNT7B FZD5 FZD4
16 11.38 PAX6 FOXC1 CALM2
17
Show member pathways
10.93 OTX2 CDKN2A
18
Show member pathways
10.82 LRP5 FZD5 FZD4
19 10.37 WNT7B LRP5 FZD5 FZD4

GO Terms for Persistent Hyperplastic Primary Vitreous

Cellular components related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 VSX2 PITX2 PAX6 OTX2 FOXC1 ATOH7

Biological processes related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 SKI PITX2 PAX6 OTX2 LRP5 FZD5
2 positive regulation of transcription, DNA-templated GO:0045893 9.87 PAX6 OTX2 NDP LRP5 FZD4 FOXC1
3 neuron differentiation GO:0030182 9.76 WNT7B FZD5 FZD4 COPS2
4 blood vessel development GO:0001568 9.65 PAX6 FZD4 FOXC1
5 positive regulation of DNA binding GO:0043388 9.58 SKI FOXC1 CALM2
6 regulation of insulin secretion involved in cellular response to glucose stimulus GO:0061178 9.57 SYBU LRP5
7 embryonic camera-type eye morphogenesis GO:0048596 9.56 PAX6 FZD5
8 canonical Wnt signaling pathway GO:0060070 9.56 WNT7B LRP5 FZD5 FZD4
9 iris morphogenesis GO:0061072 9.55 PITX2 PAX6
10 positive regulation of core promoter binding GO:1904798 9.54 PAX6 FOXC1
11 lacrimal gland development GO:0032808 9.52 PAX6 FOXC1
12 retinal blood vessel morphogenesis GO:0061304 9.51 LRP5 FZD4
13 retina vasculature morphogenesis in camera-type eye GO:0061299 9.49 NDP FZD4
14 camera-type eye development GO:0043010 9.46 SKI PITX2 PAX6 FOXC1
15 extracellular matrix-cell signaling GO:0035426 9.43 NDP FZD4
16 Wnt signaling pathway GO:0016055 9.43 WNT7B TSPAN12 NDP LRP5 FZD5 FZD4
17 multicellular organism development GO:0007275 9.32 WNT7B VSX2 PITX2 PAX6 OTX2 LRP5

Molecular functions related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 WNT7B TSPAN12 SYBU SPPL2B SKI RABAC1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 VSX2 SKI PITX2 PAX6 OTX2 FOXC1
3 protein kinase binding GO:0019901 9.65 SKI PAX6 FZD5 CDKN2A CALM2
4 ubiquitin protein ligase binding GO:0031625 9.62 SKI PAX6 FZD5 FZD4
5 Wnt-protein binding GO:0017147 9.13 LRP5 FZD5 FZD4
6 Wnt-activated receptor activity GO:0042813 8.92 TSPAN12 LRP5 FZD5 FZD4

Sources for Persistent Hyperplastic Primary Vitreous

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72 UMLS via Orphanet
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