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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 14759
    Pathological Conditions, Signs and Symptoms 7254
      Anatomical Pathological Conditions 1300
        alopecia 74
          T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            hair disease 201
              hypotrichosis 93
                alopecia 74
                  T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
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