ONTOLOGY REPORT - ANNOTATIONS


Term:IGSF1 deficiency syndrome
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Accession:DOID:0111140 term browser browse the term
Definition:An X-linked recessive disease 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
 primary_id: OMIM:300888
 alt_id: RDO:9000468
 xref: ORDO:329235
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IGSF1 deficiency syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igsf1 immunoglobulin superfamily, member 1 JBrowse link X 136,792,637 136,808,107 RGD:7240710
RGD:8554872

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Path 1
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  disease 14920
    syndrome 4714
      hypothyroidism 136
        IGSF1 deficiency syndrome 1
Path 2
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            X-linked monogenic disease 838
              X-linked recessive disease 168
                IGSF1 deficiency syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.