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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:Amish Lethal Microcephaly
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Accession:DOID:9006375 term browser browse the term
Synonyms:exact_synonym: Amish microcephaly;   MCPHA;   THMD3;   microcephaly, Amish type;   thiamine metabolism dysfunction syndrome 3 (microcephaly type)
 broad_synonym: SLC25A19-RELATED CONDITION
 primary_id: MESH:C538247
 alt_id: MIM:607196


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Amish Lethal Microcephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A19 solute carrier family 25 member 19 ISO ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: SLC25A19-related condition | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) OMIM
ClinVar		 PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More... NCBI chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    physical disorder 5170
      congenital nervous system abnormality 1535
        microcephaly 1141
          Amish Lethal Microcephaly 1
Path 2
Term Annotations click to browse term
  disease 15838
    Developmental Disease 13862
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          monogenic disease 10862
            autosomal genetic disease 10401
              autosomal dominant disease 6753
                complex cortical dysplasia with other brain malformations 1637
                  Malformations of Cortical Development, Group I 1387
                    microcephaly 1141
                      Amish Lethal Microcephaly 1
paths to the root