Term: | Retinal coloboma |
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Accession: | HP:0000480
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browse the term
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Definition: | A notch or cleft of the retina. |
Synonyms: | exact_synonym: | Hole in the back of the eye |
| alt_id: | HP:0007808 |
| xref: | UMLS:C3540764 |
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AHI1 |
Abelson helper integration site 1 |
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IAGP |
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HPO |
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ORPHA:220493 |
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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ALDH1A3 |
aldehyde dehydrogenase 1 family member A3 |
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IAGP |
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HPO |
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MIM:615113 |
NCBI chr15:100,879,831...100,916,626
Ensembl chr15:100,861,924...100,916,626
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B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:261540 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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C2CD3 |
C2 domain containing 3 centriole elongation regulator |
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IAGP |
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HPO |
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MIM:615948 ORPHA:434179 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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MIM:300749 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CEP120 |
centrosomal protein 120 |
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IAGP |
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HPO |
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ORPHA:220493 |
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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MIM:610188 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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CEP41 |
centrosomal protein 41 |
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IAGP |
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HPO |
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ORPHA:220493 |
NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
ClinVar Annotator: match by term: Retinal coloboma |
ClinVar HPO |
PMID:25741868 |
MIM:214800 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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FIBP |
FGF1 intracellular binding protein |
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IAGP |
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HPO |
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MIM:617107 ORPHA:500095 |
NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
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FZD5 |
frizzled class receptor 5 |
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IAGP |
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HPO |
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MIM:620731 |
NCBI chr 2:207,762,598...207,769,906
Ensembl chr 2:207,762,598...207,769,906
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HMX1 |
H6 family homeobox 1 |
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IAGP |
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HPO |
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MIM:612109 |
NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839
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INPP5E |
inositol polyphosphate-5-phosphatase E |
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IAGP |
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HPO |
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ORPHA:220493 |
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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INTS1 |
integrator complex subunit 1 |
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IAGP |
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HPO |
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MIM:618571 |
NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389
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KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KIAA0586 |
KIAA0586 |
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IAGP |
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HPO |
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MIM:616546 |
NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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MAN2C1 |
mannosidase alpha class 2C member 1 |
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IAGP |
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HPO |
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MIM:619775 |
NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612
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MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:220493 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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PAX2 |
paired box 2 |
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IAGP |
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HPO |
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MIM:120330 ORPHA:1475 |
NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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MIM:280000 ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
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HPO |
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ORPHA:508488 ORPHA:508498 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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RAB18 |
RAB18, member RAS oncogene family |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117
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RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
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RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RAP1B |
RAP1B, member of RAS oncogene family |
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IAGP |
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HPO |
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MIM:620654 |
NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901
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SALL2 |
spalt like transcription factor 2 |
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IAGP |
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HPO |
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MIM:216820 |
NCBI chr14:21,521,080...21,537,121
Ensembl chr14:21,521,080...21,537,216
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SALL4 |
spalt like transcription factor 4 |
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IAGP |
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HPO |
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MIM:607323 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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TBC1D20 |
TBC1 domain family member 20 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
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TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
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HPO |
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MIM:113620 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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CLDN19 |
claudin 19 |
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IAGP |
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HPO |
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MIM:248190 ORPHA:2196 |
NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
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CRB1 |
crumbs cell polarity complex component 1 |
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IAGP |
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HPO |
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MIM:613835 |
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
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DHX38 |
DEAH-box helicase 38 |
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IAGP |
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HPO |
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MIM:618220 |
NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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LCA5 |
lebercilin LCA5 |
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IAGP |
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HPO |
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ORPHA:364055 |
NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
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LRAT |
lecithin retinol acyltransferase |
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IAGP |
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HPO |
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ORPHA:364055 |
NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
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MMACHC |
metabolism of cobalamin associated C |
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IAGP |
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HPO |
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ORPHA:79282 |
NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
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NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
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IAGP |
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HPO |
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MIM:608553 MIM:619260 |
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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IAGP |
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HPO |
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ORPHA:423479 |
NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993
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RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
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HPO |
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ORPHA:364055 |
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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SPATA7 |
spermatogenesis associated 7 |
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IAGP |
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HPO |
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ORPHA:364055 |
NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
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TENM3 |
teneurin transmembrane protein 3 |
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IAGP |
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HPO |
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MIM:615145 |
NCBI chr 4:181,447,613...182,803,024
Ensembl chr 4:182,143,987...182,803,024
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