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Term:Amish Lethal Microcephaly
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Accession:DOID:9006375 term browser browse the term
Synonyms:exact_synonym: Amish Microcephaly;   MCPHA;   Microcephaly, Amish type;   THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE);   THMD3
 primary_id: MESH:C538247;   RDO:0004198
 alt_id: OMIM:607196
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Amish Lethal Microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a19 solute carrier family 25 member 19 JBrowse link 10 104,166,594 104,179,523 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    physical disorder 744
      congenital nervous system abnormality 304
        microcephaly 210
          Amish Lethal Microcephaly 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      Amish Lethal Microcephaly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.