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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: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
 xref: ICD10CM:D82.8;   ORDO:169095
For additional species annotation, visit the Alliance of Genome Resources.


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T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by OMIM:601705
ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia and nail dystrophy
ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
OMIM
ClinVar
PMID:1447097, PMID:1566583, PMID:8911612, PMID:10206641, PMID:15180707, PMID:15897400, PMID:18339010, PMID:20864124, PMID:20978268, PMID:21507891, PMID:24033266, PMID:25173801, PMID:25741868, PMID:27484032, PMID:28492532, PMID:28636882, PMID:31447097 NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Pathological Conditions, Signs and Symptoms 8735
      Anatomical Pathological Conditions 1525
        alopecia 93
          T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            hair disease 262
              hypotrichosis 127
                alopecia 93
                  T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.