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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 ClinVar Annotator: match by term: Cutis laxa with osteodystrophy OMIM
ClinVar		 PMID:9536098 PMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 More... NCBI chrNW_004624747:23,471,697...23,501,018
Ensembl chrNW_004624747:23,471,403...23,504,576 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy ClinVar PMID:25741868 NCBI chrNW_004624747:23,439,647...23,470,470 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    sensory system disease 6543
      skin disease 3824
        cutis laxa 47
          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 14230
    disease of anatomical entity 13932
      nervous system disease 12272
        Neurologic Manifestations 9180
          sensory system disease 6543
            skin disease 3824
              Genetic Skin Diseases 1732
                cutis laxa 47
                  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