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ONTOLOGY REPORT - ANNOTATIONS


Term:IGSF1 deficiency syndrome
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Accession:DOID:0111140 term browser browse the term
Definition:A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: CHTE;   X-linked central congenital hypothyroidism with late-onset macroorchidism;   X-linked central congenital hypothyroidism with late-onset testicular enlargement;   central hypothyroidism and testicular enlargement;   central hypothyroidism with testicular enlargement
 primary_id: OMIM:300888
 xref: ORDO:329235
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IGSF1 deficiency syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:8554872
G Igsf1 immunoglobulin superfamily, member 1 JBrowse link X 136,792,637 136,808,107 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      hypothyroidism 139
        IGSF1 deficiency syndrome 2
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            X-linked monogenic disease 854
              X-linked recessive disease 212
                IGSF1 deficiency syndrome 2
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