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megalocornea - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:megalocornea
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Accession:DOID:0060305 term browser browse the term
Definition:A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. (DO)
Synonyms:exact_synonym: CHRDL1-RELATED CONDITION;   MGC1;   MGCN;   anterior megalophthalmos;   congenital anterior megalophthalmia
 narrow_synonym: ISOLATED CONGENITAL MEGALOCORNEA;   X-linked megalocornea 1
 primary_id: MESH:C562829
 alt_id: MIM:249300;   MIM:309300
 xref: ORDO:91489

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megalocornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Chrdl1 chordin like 1 ISO ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea OMIM
ClinVar		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chrNW_004624803:5,011,132...5,144,899
Ensembl chrNW_004624803:5,010,746...5,144,989 		JBrowse link
G G CHRDL1 chordin like 1 ISO ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea OMIM
ClinVar		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chr  X:98,490,291...98,611,811
Ensembl chr  X:98,489,874...98,611,951 		JBrowse link
G P CHRDL1 chordin like 1 ISO ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea OMIM
ClinVar		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chr  X:90,703,422...90,827,216
Ensembl chr  X:90,703,428...90,827,210 		JBrowse link
G S Chrdl1 chordin like 1 ISO ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea OMIM
ClinVar		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chrNW_004936499:4,474,899...4,587,563
Ensembl chrNW_004936499:4,474,884...4,587,501 		JBrowse link
G D CHRDL1 chordin like 1 ISO ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea OMIM
ClinVar		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chr  X:83,816,131...83,936,497
Ensembl chr  X:83,817,880...83,936,949 		JBrowse link
G B CHRDL1 chordin like 1 ISO ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea OMIM
ClinVar		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chr  X:99,781,730...99,915,778
Ensembl chr  X:110,251,525...110,375,289 		JBrowse link
G C Chrdl1 chordin like 1 ISO ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea OMIM
ClinVar		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chrNW_004955490:5,108,308...5,218,679
Ensembl chrNW_004955490:5,108,308...5,257,445 		JBrowse link
G R Chrdl1 chordin-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea		 CTD
ClinVar
OMIM		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921 		JBrowse link
G M Chrdl1 chordin-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea		 CTD
ClinVar
OMIM		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chr  X:142,068,670...142,177,282
Ensembl chr  X:142,068,670...142,177,258 		JBrowse link
G H CHRDL1 chordin like 1 IAGP
EXP		 ClinVar Annotator: match by term: Megalocornea
ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea
ClinVar Annotator: match by term: CHRDL1-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chr  X:110,673,856...110,795,817
Ensembl chr  X:110,673,856...110,795,819 		JBrowse link
G N Ltbp2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chrNW_004624734:27,058,531...27,162,229
Ensembl chrNW_004624734:27,059,213...27,159,654 		JBrowse link
G G LTBP2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr24:51,707,348...51,823,449
Ensembl chr24:51,708,479...51,823,347 		JBrowse link
G P LTBP2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
G S Ltbp2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
G D LTBP2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr 8:47,657,618...47,758,257
Ensembl chr 8:47,659,363...47,760,938 		JBrowse link
G B LTBP2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914 		JBrowse link
G C Ltbp2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256 		JBrowse link
G R Ltbp2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G M Ltbp2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306 		JBrowse link
G H LTBP2 latent transforming growth factor beta binding protein 2 IAGP associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chrNW_004624734:27,058,531...27,162,229
Ensembl chrNW_004624734:27,059,213...27,159,654 		JBrowse link
G G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chr24:51,707,348...51,823,449
Ensembl chr24:51,708,479...51,823,347 		JBrowse link
G P LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
G S Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
G D LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chr 8:47,657,618...47,758,257
Ensembl chr 8:47,659,363...47,760,938 		JBrowse link
G B LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914 		JBrowse link
G C Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256 		JBrowse link
G R Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G M Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306 		JBrowse link
G H LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        corneal disease 2564
          megalocornea 20
            Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            X-linked monogenic disease 14776
              X-linked recessive disease 8942
                megalocornea 20
                  Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 10
paths to the root