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ONTOLOGY REPORT - ANNOTATIONS


Term:Anterior Segment Dysgenesis 6
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Accession:DOID:9000536 term browser browse the term
Synonyms:exact_synonym: ASGD6;   Anterior segment dysgenesis 6, multiple subtypes
 narrow_synonym: IRIDO-CORNEO-TRABECULAR DYSGENESIS
 broad_synonym: CYP1B1-RELATED DISORDER
 primary_id: OMIM:617315
 alt_id: RDO:9001345
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Anterior Segment Dysgenesis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
RGD:7240710
G Dab1 DAB adaptor protein 1 JBrowse link 5 123,154,360 124,279,170 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Ephb2 Eph receptor B2 JBrowse link 5 155,024,478 155,143,539 RGD:8554872
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Pitrm1 pitrilysin metallopeptidase 1 JBrowse link 17 68,477,423 68,509,113 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Prpf8 pre-mRNA processing factor 8 JBrowse link 10 63,635,239 63,658,360 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:8554872
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        Congenital Abnormalities 3618
          Eye Abnormalities 280
            anterior segment dysgenesis 23
              Anterior Segment Dysgenesis 6 15
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye disease 2257
              corneal disease 172
                sclerocornea 23
                  anterior segment dysgenesis 23
                    Anterior Segment Dysgenesis 6 15
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.