ONTOLOGY REPORT - ANNOTATIONS


Term:anonychia congenita
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Accession:DOID:0050643 term browser browse the term
Definition:A nail disease that is characterized by absence of fingernails and toenails, has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (DO)
Synonyms:exact_synonym: ANONYCHIA TOTALIS;   ANONYCHIA/HYPONYCHIA CONGENITA;   Anonychia;   Hyponychia congenita
 primary_id: MESH:C536377
 alt_id: RDO:0001940
 xref: GARD:12930
For additional species annotation, visit the Alliance of Genome Resources.


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anonychia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:8554872
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:8554872
G Rspo4 R-spondin 4 JBrowse link 3 147,358,690 147,391,719 RGD:8554872
RGD:11554173
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:11554173
nonsyndromic congenital nail disorder 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Rspo4 R-spondin 4 JBrowse link 3 147,358,690 147,391,719 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        nail disease 43
          anonychia congenita 5
            nonsyndromic congenital nail disorder 4 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            nail disease 43
              Malformed Nails 19
                anonychia congenita 5
                  nonsyndromic congenital nail disorder 4 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.