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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: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
For additional species annotation, visit the Alliance of Genome Resources.



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IGSF1 deficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by term: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by OMIM:300888
OMIM
ClinVar
PMID:23143598 PMID:23966245 PMID:25741868 PMID:27310681 PMID:30086211 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      hypothyroidism 158
        IGSF1 deficiency syndrome 4
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            X-linked monogenic disease 1027
              X-linked recessive disease 383
                IGSF1 deficiency syndrome 4
paths to the root