MCID: CLB010
MIFTS: 51

Coloboma of Macula

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coloboma of Macula

MalaCards integrated aliases for Coloboma of Macula:

Name: Coloboma of Macula 57 12 76 53 59
Coloboma 12 25 55 44 15
Congenital Ocular Coloboma 12 25 29 6
Microphthalmia, Isolated, with Coloboma 25 29 40
Hereditary Macular Coloboma 53 73
Agenesis of Macula 57 53
Ocular Coloboma 25 37
Uveoretinal Coloboma 25
Macular Coloboma 53
Coloboma of Eye 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coloboma of macula:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 120300
Disease Ontology 12 DOID:12270
ICD10 33 Q13.0
MeSH 44 D003103
NCIt 50 C98877
SNOMED-CT 68 92828000 93390002
Orphanet 59 ORPHA98945
ICD10 via Orphanet 34 Q14.8
MedGen 42 C1852767
KEGG 37 H01114
SNOMED-CT via HPO 69 263681008

Summaries for Coloboma of Macula

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98945Disease definitionColoboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.Visit the Orphanet disease page for more resources.

MalaCards based summary : Coloboma of Macula, also known as coloboma, is related to coloboma of optic nerve and coloboma, ocular, autosomal dominant. An important gene associated with Coloboma of Macula is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, retina and brain, and related phenotypes are macular coloboma and cellular

Disease Ontology : 12 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

Genetics Home Reference : 25 Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.

Wikipedia : 76 A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

Description from OMIM: 120300

Related Diseases for Coloboma of Macula

Diseases related to Coloboma of Macula via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 293)
# Related Disease Score Top Affiliating Genes
1 coloboma of optic nerve 34.1 SALL2 PAX6 PAX2 FZD5 ABCB6
2 coloboma, ocular, autosomal dominant 33.9 YAP1 TMEM67 SALL2 RBP4 PAX6 FZD5
3 coloboma of iris 33.8 TMEM67 PAX6
4 coloboma of eye lens 33.4 SALL2 PAX6 FZD5 ABCB6
5 coloboma of eyelid 33.4 PAX6 FZD5 ABCB6 SALL2
6 microphthalmia 32.2 VAX2 VAX1 RBP4 PAX6 PAX2 MFRP
7 colobomatous microphthalmia 31.5 RBP4 MCOPCB2 MCOPCB1 MAB21L2 GDF3 ABCB6
8 coloboma of macula with type b brachydactyly 12.6
9 retinochoroidal coloboma 12.4
10 nasopalpebral lipoma-coloboma syndrome 12.4
11 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.3
12 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 12.3
13 papillorenal syndrome 12.3
14 coloboma of macula and skeletal anomalies 12.3
15 coloboma, ocular, autosomal recessive 12.3
16 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.3
17 microphthalmia, isolated, with coloboma 5 12.3
18 microphthalmia, isolated, with coloboma 6 12.3
19 microphthalmia, isolated, with coloboma 3 12.3
20 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.3
21 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.3
22 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.3
23 microphthalmia, isolated, with coloboma 7 12.3
24 microphthalmia, isolated, with coloboma 9 12.3
25 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 12.2
26 microphthalmia/coloboma and skeletal dysplasia syndrome 12.2
27 microphthalmia, isolated, with coloboma 10 12.2
28 microphthalmia, isolated, with coloboma 1 12.2
29 microtia with nasolacrimal duct imperforation and eye coloboma 12.2
30 uveal coloboma-cleft lip and palate-intellectual disability 12.1
31 cerebral-cerebellar-coloboma syndrome, x-linked 12.0
32 retinal dystrophy and iris coloboma with or without congenital cataract 12.0
33 brachydactyly, coloboma, and anterior segment dysgenesis 12.0
34 microphthalmia, isolated, with coloboma 2 12.0
35 microphthalmia, isolated, with coloboma 4 11.9
36 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.9
37 coloboma of inferior eyelid 11.9
38 coloboma of superior eyelid 11.9
39 temtamy syndrome 11.9
40 aortic arch interruption, facial palsy, and retinal coloboma 11.9
41 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness 11.9
42 microphthalmia/anophthalmia/coloboma spectrum 11.9
43 coloboma of optic papilla 11.9
44 coloboma porencephaly hydronephrosis 11.9
45 esophageal atresia coloboma talipes 11.9
46 hypercalcinuria macular coloboma 11.9
47 short limb dwarf edema iris coloboma 11.9
48 charge syndrome 11.8
49 coach syndrome 11.8
50 microphthalmia, syndromic 9 11.7

Graphical network of the top 20 diseases related to Coloboma of Macula:



Diseases related to Coloboma of Macula

Symptoms & Phenotypes for Coloboma of Macula

Symptoms via clinical synopsis from OMIM:

57
Eyes:
agenesis of macula
coloboma of macula


Clinical features from OMIM:

120300

Human phenotypes related to Coloboma of Macula:

32
# Description HPO Frequency HPO Source Accession
1 macular coloboma 32 HP:0001116

MGI Mouse Phenotypes related to Coloboma of Macula:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 ABCB6 CHD7 GDF3 PAX2 PAX6 RBP4
2 cardiovascular system MP:0005385 10.06 CHD7 FZD5 MAB21L2 PAX2 PAX6 RBP4
3 mortality/aging MP:0010768 9.97 ABCB6 CHD7 FZD5 GDF3 MAB21L2 PAX2
4 digestive/alimentary MP:0005381 9.92 CHD7 FZD5 PAX6 RBP4 TMEM67 VAX1
5 embryo MP:0005380 9.91 CHD7 FZD5 GDF3 PAX2 PAX6 SALL2
6 nervous system MP:0003631 9.7 CHD7 FZD5 MFRP PAX2 PAX6 SALL2
7 vision/eye MP:0005391 9.36 CHD7 CYP1B1 FZD5 MAB21L2 MFRP PAX2

Drugs & Therapeutics for Coloboma of Macula

Search Clinical Trials , NIH Clinical Center for Coloboma of Macula

Cochrane evidence based reviews: coloboma

Genetic Tests for Coloboma of Macula

Genetic tests related to Coloboma of Macula:

# Genetic test Affiliating Genes
1 Congenital Ocular Coloboma 29 PAX6
2 Microphthalmia, Isolated, with Coloboma 29

Anatomical Context for Coloboma of Macula

MalaCards organs/tissues related to Coloboma of Macula:

41
Eye, Retina, Brain, Skin, Heart, Endothelial, Pancreas

Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

(show top 50) (show all 124)
# Title Authors Year
1
Corneal Endothelial Cell Density in Uveal Coloboma Associated With Microcornea. ( 30222717 )
2019
2
Surgical technique for management of isolated lenticular coloboma with high corneal astigmatism. ( 29582820 )
2018
3
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. ( 29930474 )
2018
4
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). ( 29575628 )
2018
5
Bilateral lens coloboma associated with Marfan syndrome. ( 30038176 )
2018
6
Optic nerve sheath meningocele associated with coloboma. ( 30270035 )
2018
7
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. ( 29498412 )
2018
8
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. ( 30513139 )
2018
9
Serous macular detachment due to nasally located optic disc pit-coloboma. ( 30450323 )
2018
10
Association of giant retinal tear with iridofundal coloboma in a case of paediatric retinal detachment. ( 30173139 )
2018
11
RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA. ( 28338555 )
2018
12
Atypical superior iris and retinochoroidal coloboma. ( 30249843 )
2018
13
Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). ( 28702949 )
2018
14
Corneal thickness in uveal coloboma with microcornea. ( 29192683 )
2018
15
Retino-choroidal coloboma: Study through retinography, fluorescence angiography, ecography and optical coherence tomography. ( 29398229 )
2018
16
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye. ( 29522511 )
2018
17
Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma. ( 29643788 )
2018
18
Low-vision aids improve the visual performance of children with bilateral chorioretinal coloboma. ( 29730056 )
2018
19
Bilateral macular coloboma. ( 29773313 )
2018
20
Modified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens. ( 30038167 )
2018
21
Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses. ( 30038168 )
2018
22
"HOURGLASS COLOBOMA": A CASE REPORT AND REVIEW OF ETIOPATHOGENESIS. ( 30045150 )
2018
23
SUCCESSFUL SURGICAL OUTCOME OF FULL-THICKNESS MACULAR HOLE WITH CHOROIDAL COLOBOMA. ( 30048407 )
2018
24
Multiloculated Ciliary Body Cysts and Lenticular Coloboma: A Rare Phenotypic Variation Associated With Persistent Fetal Vasculature. ( 30388281 )
2018
25
Bilateral congenital macular coloboma: Swept-source optical coherence tomography findings. ( 30430533 )
2018
26
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors. ( 30445451 )
2018
27
Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity. ( 30549247 )
2018
28
OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA. ( 29280939 )
2017
29
Spontaneous rupture of chorioretinal coloboma in an 8-year-old child is treated by temporal fascia graft. ( 27866070 )
2017
30
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants. ( 28074499 )
2017
31
Coloboma of the Optic Disc and Retina. ( 28353130 )
2017
32
Vitrectomy-assisted phacoemulsification for lenticular coloboma. ( 28366360 )
2017
33
Pediatric Choroidal Coloboma with Macular Hole at the Edge of the Coloboma. ( 28433125 )
2017
34
Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma. ( 28677725 )
2017
35
Aborted choroidal coloboma: fundus imaging and optical coherence tomography. ( 28784898 )
2017
36
Bilateral optic disc coloboma. ( 28824002 )
2017
37
Optic disc coloboma with pit treated as glaucoma: diagnostic utility of ultrasound and swept source optical coherence tomography. ( 28830904 )
2017
38
Ultrasonographic evaluation of transition from normal to ectatic area: A comparison between myopic staphylomata and coloboma. ( 29044079 )
2017
39
Three Cases of Associated Persistent Fetal Vasculature and Ocular Coloboma: Posterior Segment Dysgenesis. ( 29156060 )
2017
40
Endoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome. ( 29157424 )
2017
41
A 5-day-old-newborn with a large right upper eyelid coloboma. ( 29162995 )
2017
42
Optic disc coloboma in two nigerian siblings: Case report and review of literature. ( 29303140 )
2017
43
Evaluations of Corneas in Eyes with Isolated Iris Coloboma. ( 27266586 )
2017
44
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. ( 27889061 )
2016
45
Atypical chorioretinal coloboma in a Golden Retriever: a retinographic, fluoroangiographic, and optical coherence tomography study. ( 26559650 )
2016
46
Chorioretinal coloboma in a patient with pancreas divisum: clinical and imaging features. ( 27405286 )
2016
47
Large upper eyelid coloboma repair: a one-stage, one-site technique. ( 27664845 )
2016
48
Uveal coloboma: about 3 cases at the University Teaching Hospital, Yaounde, Cameroon. ( 27795796 )
2016
49
Utility of optical coherence tomography in a case of bilateral congenital macular coloboma. ( 27853022 )
2016
50
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency. ( 27980677 )
2016

Variations for Coloboma of Macula

ClinVar genetic disease variations for Coloboma of Macula:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
2 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
3 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
4 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh38 Chromosome 11, 31793795: 31793795
5 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh37 Chromosome 2, 38298394: 38298394
6 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh38 Chromosome 2, 38071251: 38071251
7 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 GRCh37 Chromosome 2, 38302291: 38302291
8 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 GRCh38 Chromosome 2, 38075148: 38075148
9 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 GRCh37 Chromosome 2, 38301847: 38301847
10 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 GRCh38 Chromosome 2, 38074704: 38074704
11 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh37 Chromosome 2, 38301664: 38301664
12 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh38 Chromosome 2, 38074521: 38074521
13 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh37 Chromosome 20, 17474721: 17474722
14 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh38 Chromosome 20, 17494076: 17494077
15 BFSP1 NM_001161705.1(BFSP1): c.401G> C (p.Cys134Ser) single nucleotide variant Uncertain significance rs557601555 GRCh37 Chromosome 20, 17479645: 17479645
16 BFSP1 NM_001161705.1(BFSP1): c.401G> C (p.Cys134Ser) single nucleotide variant Uncertain significance rs557601555 GRCh38 Chromosome 20, 17499000: 17499000
17 SLC16A12 NM_213606.3(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 GRCh37 Chromosome 10, 91198917: 91198917
18 SLC16A12 NM_213606.3(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 GRCh38 Chromosome 10, 89439160: 89439160
19 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
20 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh37 Chromosome 11, 101984923: 101984923
21 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181
22 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh37 Chromosome 11, 65652652: 65652652
23 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
24 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
25 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh37 Chromosome 9, 123234112: 123234112
26 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh38 Chromosome 9, 120471834: 120471834
27 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 93593997: 93593997
28 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 95353754: 95353754

Copy number variations for Coloboma of Macula from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 80271 13 88800000 93800000 Deletion coloboma

Expression for Coloboma of Macula

Search GEO for disease gene expression data for Coloboma of Macula.

Pathways for Coloboma of Macula

Pathways related to Coloboma of Macula according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 FZD5 GDF3 PAX6 YAP1
2 11.29 FZD5 PAX6 VAX2

GO Terms for Coloboma of Macula

Biological processes related to Coloboma of Macula according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 FZD5 GDF3 MAB21L2 PAX2 PAX6 VAX1
2 brain development GO:0007420 9.78 ABCB6 PAX6 VAX1 VAX2
3 central nervous system development GO:0007417 9.72 CHD7 PAX6 VAX1
4 axonogenesis GO:0007409 9.67 PAX2 PAX6 VAX2
5 visual perception GO:0007601 9.63 CYP1B1 MFRP PAX2 PAX6 RBP4 VAX2
6 retina development in camera-type eye GO:0060041 9.56 CHD7 MFRP PAX6 VAX2
7 cell fate determination GO:0001709 9.54 PAX2 PAX6
8 eye photoreceptor cell development GO:0042462 9.52 MFRP PAX6
9 embryonic camera-type eye morphogenesis GO:0048596 9.51 FZD5 PAX6
10 regulation of neurogenesis GO:0050767 9.5 CHD7 PAX6 YAP1
11 notochord development GO:0030903 9.46 GDF3 YAP1
12 dorsal/ventral axis specification GO:0009950 9.43 PAX6 VAX2
13 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.37 PAX2 YAP1
14 eye development GO:0001654 9.35 GDF3 MAB21L2 PAX6 RBP4 SALL2
15 camera-type eye development GO:0043010 9.1 CHD7 MAB21L2 PAX2 PAX6 VAX1 VAX2
16 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 CHD7 FZD5 PAX2 PAX6 SALL2 YAP1

Molecular functions related to Coloboma of Macula according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.13 PAX6 VAX1 VAX2
2 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding GO:0001162 8.62 VAX1 VAX2

Sources for Coloboma of Macula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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