ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive cutis laxa type IID
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Accession:DOID:0070129 term browser browse the term
Definition:An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. (DO)
Synonyms:exact_synonym: ARCL2D
 primary_id: OMIM:617403
 alt_id: DOID:9003484;   RDO:9001696
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autosomal recessive cutis laxa type IID term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link 11 61,531,386 61,584,634 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14919
    sensory system disease 4264
      skin disease 2267
        cutis laxa 18
          Autosomal Recessive Cutis Laxa 10
            autosomal recessive cutis laxa type IID 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        sensory system disease 4264
          skin disease 2267
            Genetic Skin Diseases 581
              cutis laxa 18
                Autosomal Recessive Cutis Laxa 10
                  autosomal recessive cutis laxa type II classic type 3
                    autosomal recessive cutis laxa type IID 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.