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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:autosomal recessive cutis laxa type IIA
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Accession:DOID:0070134 term browser browse the term
Definition:An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: ARCL2;   ARCL2A;   CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION;   CUTIS LAXA WITH OSTEODYSTROPHY;   Cutis Laxa With Bone Dystrophy;   Cutis Laxa With Growth And Developmental Delay;   Cutis Laxa With Joint Laxity And Retarded Development;   cutis laxa with or without congenital disorder of glycosylation;   cutis laxa, Debre type
 primary_id: MESH:C562632
 alt_id: MIM:219200


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autosomal recessive cutis laxa type IIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa with osteodystrophy		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 More... NCBI chr12:37,608,211...37,640,860
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy ClinVar PMID:25741868 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      skin disease 4322
        cutis laxa 48
          Autosomal Recessive Cutis Laxa 37
            autosomal recessive cutis laxa type II classic type 6
              autosomal recessive cutis laxa type IIA 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              Genetic Skin Diseases 1891
                cutis laxa 48
                  Autosomal Recessive Cutis Laxa 37
                    autosomal recessive cutis laxa type II classic type 6
                      autosomal recessive cutis laxa type IIA 2
paths to the root