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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Aplasia/Hypoplasia of the lens
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Accession:HP:0008063 term browser browse the term
Definition:Absence or underdevelopment of the lens.
Synonyms:exact_synonym: Absent/small lens;   Absent/underdeveloped lens
 xref: UMLS:C4024738


show annotations for term's descendants           Sort by:
Aplasia/Hypoplasia of the lens term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO ORPHA:85194 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
Congenital aphakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 IAGP HPO OMIM:610256 ORPHA:83461 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
Lens coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO OMIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
Microphakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 IAGP HPO OMIM:617319 NCBI chr19:16,892,951...17,026,810
Ensembl chr19:16,892,951...17,026,815 		JBrowse link
G HMX1 H6 family homeobox 1 IAGP HPO OMIM:612109 NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
Microspherophakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO OMIM:277600 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:129600 OMIM:154700 OMIM:608328 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Microspherophakia
DNA:frameshift mutation:CDS:p.H1816PfsX28
DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856)		 ClinVar
HPO
RGD		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:20617341 PMID:21081970 More... OMIM:251750 OMIM:614819, RGD:156451653, RGD:243049250 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G RRAGC Ras related GTP binding C IAGP HPO OMIM:620609 NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the eye 3540
        Abnormal eye morphology 2880
          Abnormal anterior eye segment morphology 1442
            Abnormal lens morphology 907
              Aplasia/Hypoplasia of the lens 16
                Congenital aphakia 3
                Lens coloboma 3
                Microphakia 3
                Microspherophakia 4
Path 2
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the eye 3540
        Abnormal eye morphology 2880
          Abnormal anterior eye segment morphology 1442
            Ocular anterior segment dysgenesis 381
              Aplasia/Hypoplasia affecting the anterior segment of the eye 146
                Aplasia/Hypoplasia of the lens 16
                  Congenital aphakia 3
                  Lens coloboma 3
                  Microphakia 3
                  Microspherophakia 4
paths to the root