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ONTOLOGY REPORT - ANNOTATIONS


Term:T-cell immunodeficiency, congenital alopecia, and nail dystrophy
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Accession:DOID:0060769 term browser browse the term
Definition:A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO)
Synonyms:exact_synonym: Pignata Guarino syndrome;   alymphoid cystic thymic dysgenesis;   congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency;   severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome;   winged helix deficiency
 primary_id: MESH:C536781
 alt_id: OMIM:601705;   RDO:0002469
 xref: ORDO:169095
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T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    Pathological Conditions, Signs and Symptoms 8034
      Anatomical Pathological Conditions 1329
        alopecia 78
          T-cell immunodeficiency, congenital alopecia, and nail dystrophy 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
            X-linked monogenic disease 850
              combined T cell and B cell immunodeficiency 67
                severe combined immunodeficiency 52
                  T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.