MCID: CLB010
MIFTS: 52

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 56 12 74 52 58
Coloboma 12 25 54 43 15
Congenital Ocular Coloboma 12 25 29 6
Microphthalmia, Isolated, with Coloboma 25 39
Hereditary Macular Coloboma 52 71
Agenesis of Macula 56 52
Uveoretinal Coloboma 25
Macular Coloboma 52
Coloboma of Eye 12
Ocular Coloboma 25

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
coloboma of macula:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:12270
OMIM 56 120300
MeSH 43 D003103
NCIt 49 C98877
SNOMED-CT 67 93390002
ICD10 32 Q13.0
ICD10 via Orphanet 33 Q14.8
Orphanet 58 ORPHA98945
MedGen 41 C1852767
SNOMED-CT via HPO 68 263681008
UMLS 71 C0009363 C1852767

Summaries for Coloboma of Macula

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. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses. Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment). Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated. Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.

MalaCards based summary : Coloboma of Macula, also known as coloboma, is related to coloboma, ocular, autosomal dominant and coloboma of optic nerve. An important gene associated with Coloboma of Macula is PAX6 (Paired Box 6). 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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98945 Definition Coloboma 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.

Wikipedia : 74 A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

More information 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 548)
# Related Disease Score Top Affiliating Genes
1 coloboma, ocular, autosomal dominant 35.5 TMEM67 SALL2 PAX6 FZD5 ABCB6
2 coloboma of optic nerve 35.4 SALL2 PAX6 PAX2 FZD5 ABCB6
3 papillorenal syndrome 35.0 PAX6 PAX2 CRYAA CHD7
4 microphthalmia 34.9 YAP1 VSX2 VAX2 TMEM67 SALL2 RBP4
5 coloboma of iris 34.8 TMEM67 PAX6
6 coloboma of eye lens 34.7 SALL2 PAX6 FZD5 ABCB6
7 coloboma of eyelid 34.6 SALL2 PAX6 FZD5 ABCB6
8 charge syndrome 34.2 PAX6 PAX2 CHD7
9 colobomatous microphthalmia 33.6 VSX2 RBP4 PAX6 PAX2 ABCB6
10 aniridia 1 33.4 VSX2 PAX6 PAX2 CYP1B1 CRYAA
11 axenfeld-rieger syndrome 33.3 VSX2 PAX6 PAX2 MIR204 CYP1B1 CRYAA
12 fryns microphthalmia syndrome 33.2 VSX2 PAX6
13 ptosis 31.7 SNAP25 PAX6 MYH10 CRYAA CFAP47
14 pathologic nystagmus 31.7 TMEM67 PAX6 CRYAA
15 cataract 31.7 VSX2 PAX6 PAX2 MIR204 CRYAA
16 intraocular pressure quantitative trait locus 31.5 PAX6 MIR204 CYP1B1 CRYAA
17 optic nerve hypoplasia, bilateral 31.4 VSX2 PAX6 PAX2
18 persistent hyperplastic primary vitreous 31.3 VSX2 PAX6 PAX2 FZD5
19 fundus dystrophy 31.3 VSX2 TMEM67 PAX6 PAX2 MIR204 CRYAA
20 lens subluxation 31.3 VSX2 PAX6 CRYAA
21 anterior segment dysgenesis 31.2 PAX6 MIR204 CYP1B1 CRYAA
22 scleral staphyloma 31.2 PAX2 CRYAA
23 peters-plus syndrome 31.2 VSX2 PAX6 CYP1B1 CRYAA
24 keratitis, hereditary 31.1 VSX2 PAX6 PAX2 CYP1B1 CRYAA
25 eye disease 31.1 VSX2 RBP4 PAX6 MIR204 CYP1B1 CRYAA
26 microphthalmia, isolated 2 30.9 VSX2 PAX6 CYP1B1
27 syndromic microphthalmia 30.8 VSX2 PAX6 CRYAA
28 primary congenital glaucoma 30.8 PAX6 CYP1B1 CRYAA
29 microphthalmia, isolated 3 30.7 VSX2 PAX6
30 leukocoria 30.6 VSX2 CRYAA
31 phimosis 30.4 CYP1B1 CRYAA
32 leber plus disease 30.1 VSX2 TMEM67 PAX6 CRYAA
33 coloboma of macula with type b brachydactyly 12.8
34 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.6
35 microphthalmia, isolated, with coloboma 9 12.6
36 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.6
37 coloboma, ocular, autosomal recessive 12.6
38 microphthalmia, isolated, with coloboma 3 12.6
39 microphthalmia, isolated, with coloboma 5 12.6
40 microphthalmia/coloboma and skeletal dysplasia syndrome 12.6
41 retinochoroidal coloboma 12.5
42 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 12.5
43 nasopalpebral lipoma-coloboma syndrome 12.5
44 microphthalmia, isolated, with coloboma 7 12.5
45 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.5
46 microphthalmia, isolated, with coloboma 1 12.5
47 microphthalmia, isolated, with coloboma 6 12.5
48 coloboma of macula and skeletal anomalies 12.5
49 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.5
50 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 12.4

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



Diseases related to Coloboma of Macula

Symptoms & Phenotypes for Coloboma of Macula

Human phenotypes related to Coloboma of Macula:

31
# Description HPO Frequency HPO Source Accession
1 macular coloboma 31 HP:0001116

Symptoms via clinical synopsis from OMIM:

56
Eyes:
agenesis of macula
coloboma of macula

Clinical features from OMIM:

120300

MGI Mouse Phenotypes related to Coloboma of Macula:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 ABCB6 CHD7 FZD5 MYH10 PAX2 PAX6
2 embryo MP:0005380 9.81 CHD7 FZD5 MYH10 PAX2 PAX6 SALL2
3 digestive/alimentary MP:0005381 9.8 CHD7 FZD5 PAX6 RBP4 TMEM67 VAX2
4 nervous system MP:0003631 9.73 CHD7 FZD5 MYH10 PAX2 PAX6 RBP4
5 vision/eye MP:0005391 9.32 CHD7 CYP1B1 FZD5 MYH10 PAX2 PAX6

Drugs & Therapeutics for Coloboma of Macula

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
2 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status NCT03167463
3 Health- and Vision-Related Quality of Life in Children and Young People With Childhood Glaucoma, Childhood Cataract and Congenital Eye Defects Completed NCT02490267
4 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
5 Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases Completed NCT00076271
6 Genetics of Uveal Coloboma Recruiting NCT01778543
7 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
8 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
9 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
10 Family Studies of Uveal Coloboma Terminated NCT00368004

Search 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

Anatomical Context for Coloboma of Macula

MalaCards organs/tissues related to Coloboma of Macula:

40
Eye, Retina, Brain, Bone, Heart, Kidney, Testes

Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

(show top 50) (show all 2175)
# Title Authors PMID Year
1
Hereditary macular coloboma. 61 56
4992343 1970
2
Bilateral "Macular Coloboma" in Mother and Son. 61 56
19986141 1927
3
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. 54 61
20186814 2010
4
Cardiac phenotyping in ex vivo murine embryos using microMRI. 61 54
19598179 2009
5
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. 61 54
19251738 2009
6
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. 54 61
18485342 2008
7
A clinico-genetic study of renal coloboma syndrome in children. 54 61
17541647 2007
8
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. 54 61
17403695 2007
9
Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. 54 61
17269592 2007
10
[Molecular diagnosis of CHARGE syndrom]. 61 54
17280632 2007
11
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. 61 54
16049068 2005
12
Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. 54 61
12759129 2003
13
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 61 54
12503095 2003
14
[Renal-coloboma syndrome]. 61 54
12410411 2002
15
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 61 54
11826019 2002
16
Identification of DNA variants in the SNAP-25 gene and linkage study of these polymorphisms and attention-deficit hyperactivity disorder. 61 54
10889551 2000
17
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. 61 54
10587573 2000
18
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. 61 54
10466411 1999
19
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 54 61
9783702 1998
20
Effects of PAX2 expression in a human fetal kidney (HEK293) cell line. 54 61
9459485 1998
21
Pax genes and organogenesis. 54 61
9297966 1997
22
Dominant inheritance of optic pits. 61 54
9222245 1997
23
Genomic structure of the human PAX2 gene. 61 54
8661132 1996
24
AUTOLOGOUS NEUROSENSORY RETINAL TRANSPLANT TO TREAT REFRACTORY SEROUS RETINAL DETACHMENT SECONDARY TO OPTIC DISC COLOBOMA. 61
32568957 2020
25
Lacrimal drainage system anomalies in microphthalmia anophthalmia coloboma complex. 61
31267812 2020
26
Hyaloid vasculature and mmp2 activity play a role during optic fissure fusion in zebrafish. 61
32576859 2020
27
Mitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure closure. 61
32541011 2020
28
Use of free oral mucosal graft for treatment of feline eyelid agenesis in seven patients. 61
32524714 2020
29
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants. 61
32530092 2020
30
Clinical and genetic variability of PAX2-related disorder in the Japanese population. 61
32203253 2020
31
Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication. 61
32506980 2020
32
Ocular and Systemic Findings in Adults with Uveal Coloboma. 61
32434002 2020
33
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort. 61
31689711 2020
34
[Unilateral chorio retinal coloboma]. 61
32475706 2020
35
Prenatal description of retinal coloboma. 61
32438134 2020
36
Unusual superior iris and retinochoroidal coloboma. 61
32317490 2020
37
Retinal astigmatism induced by a chorioretinal coloboma? 61
32452047 2020
38
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases. 61
32466763 2020
39
Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation. 61
32247258 2020
40
Total and near-total lower eyelid reconstruction with prefabricated orbicularis oculi musculocutaneous island flap. 61
32246579 2020
41
The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016. 61
32489745 2020
42
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 61
31712251 2020
43
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. 61
32032630 2020
44
A 14q distal chromoanagenesis elucidated by whole genome sequencing. 61
31562959 2020
45
Fraser syndrome without cryptophthalmos: Two cases. 61
31923588 2020
46
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye. 61
31913554 2020
47
In Vivo Analysis of Optic Fissure Fusion in Zebrafish: Pioneer Cells, Basal Lamina, Hyaloid Vessels, and How Fissure Fusion is Affected by BMP. 61
32316164 2020
48
[Diagnosis and treatment of primary intraspinal abscess]. 61
32306010 2020
49
Ocular features of Townes-Brocks syndrome. 61
31981611 2020
50
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region. 61
32316019 2020

Variations for Coloboma of Macula

ClinVar genetic disease variations for Coloboma of Macula:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro)SNV Pathogenic 625873 17:8395781-8395781 17:8492463-8492463
2 FZD5 NM_003468.4(FZD5):c.820del (p.Leu274fs)deletion Pathogenic 694329 2:208632644-208632644 2:207767920-207767920
3 PAX6 NM_000280.4(PAX6):c.773T>C (p.Phe258Ser)SNV Pathogenic 3477 rs121907925 11:31815343-31815343 11:31793795-31793795
4 CYP1B1 NM_000104.3(CYP1B1):c.868dup (p.Arg290fs)duplication Pathogenic 68468 rs587778875 2:38301663-38301664 2:38074520-38074521
5 YAP1 NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter)SNV Pathogenic 120326 rs587777249 11:101984923-101984923 11:102114192-102114192
6 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
7 RBP4 NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn)SNV Pathogenic 430902 rs1329285216 10:95353754-95353754 10:93593997-93593997
8 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)SNV Pathogenic/Likely pathogenic 189359 rs786204849 11:65652652-65652652 11:65885181-65885181
9 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
10 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
11 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
12 CDON NM_001243597.1(CDON):c.622C>T (p.Arg208Ter)SNV Likely pathogenic 637955 11:125888243-125888243 11:126018348-126018348
13 FZD5 NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)insertion Likely pathogenic 694330 2:208632382-208632383 2:207767658-207767659
14 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)SNV Likely pathogenic 633618 10:1126409-1126409 10:1080469-1080469
15 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)SNV Likely pathogenic 633616 10:1126406-1126406 10:1080466-1080466
16 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)SNV Likely pathogenic 633617 10:1126376-1126376 10:1080436-1080436
17 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
18 FZD5 NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)deletion Likely pathogenic 694331 2:208632218-208632283 2:207767494-207767559
19 CYP1B1 NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His)SNV Conflicting interpretations of pathogenicity 7739 rs79204362 2:38298394-38298394 2:38071251-38071251
20 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn)SNV Conflicting interpretations of pathogenicity 7744 rs9282671 2:38302291-38302291 2:38075148-38075148
21 CYP1B1 NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys)SNV Conflicting interpretations of pathogenicity, other 68467 rs57865060 2:38301847-38301847 2:38074704-38074704
22 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln)SNV Uncertain significance 374241 rs749612238 9:123234112-123234112 9:120471834-120471834
23 BFSP1 NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser)SNV Uncertain significance 68471 rs557601555 20:17479645-17479645 20:17499000-17499000
24 SLC16A12 NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)SNV Uncertain significance 68476 rs150800688 10:91198917-91198917 10:89439160-89439160
25 BFSP1 NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)deletion Benign 68470 rs548358901 20:17474721-17474722 20:17494076-17494077

Copy number variations for Coloboma of Macula from CNVD:

7
# CNVD ID Chromosome 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

GO Terms for Coloboma of Macula

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10 YAP1 VSX2 SALL2 PAX6 PAX2 FZD5
2 axonogenesis GO:0007409 9.56 VAX2 PAX6 PAX2 MYH10
3 eye development GO:0001654 9.54 SALL2 RBP4 PAX6
4 aorta development GO:0035904 9.52 MYH10 CHD7
5 cell fate determination GO:0001709 9.51 PAX6 PAX2
6 regulation of neurogenesis GO:0050767 9.5 YAP1 PAX6 CHD7
7 embryonic camera-type eye morphogenesis GO:0048596 9.49 PAX6 FZD5
8 adult heart development GO:0007512 9.48 MYH10 CHD7
9 retina development in camera-type eye GO:0060041 9.46 VAX2 PAX6 MYH10 CHD7
10 dorsal/ventral axis specification GO:0009950 9.43 VAX2 PAX6
11 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.4 YAP1 PAX2
12 camera-type eye development GO:0043010 9.26 VAX2 PAX6 PAX2 CHD7
13 visual perception GO:0007601 9.17 VSX2 VAX2 RBP4 PAX6 PAX2 CYP1B1

Sources for Coloboma of Macula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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