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ONTOLOGY REPORT - ANNOTATIONS


Term:COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
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Accession:DOID:9000714 term browser browse the term
Synonyms:exact_synonym: COMMAD
 primary_id: OMIM:617306;   RDO:0016188
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COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15851
    sensory system disease 4944
      eye disease 2378
        microphthalmia 91
          COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
Path 2
Term Annotations click to browse term
  disease 15851
    Developmental Diseases 9270
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8085
        genetic disease 7598
          monogenic disease 5251
            autosomal genetic disease 4215
              autosomal dominant disease 2598
                complex cortical dysplasia with other brain malformations 520
                  Malformations of Cortical Development, Group I 370
                    Macrocephaly 54
                      COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
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.