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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 14759
    disease of anatomical entity 13978
      integumentary system disease 2240
        nail disease 31
          anonychia congenita 5
            nonsyndromic congenital nail disorder 4 2
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
            nail disease 31
              anonychia congenita 5
                nonsyndromic congenital nail disorder 4 2
paths to the root