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Pathways

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:amelogenesis imperfecta hypomaturation type 2A4
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Accession:DOID:0110062 term browser browse the term
Definition:An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. (DO)
Synonyms:exact_synonym: AI2A4;   amelogenesis imperfecta type IIA4;   amelogenesis imperfecta, hypomaturation type IIA4
 primary_id: MIM:614832
 alt_id: RDO:9000167



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amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar
PMID:22901946 PMID:25741868 NCBI chr14:16,071,835...16,080,151
Ensembl chr14:16,356,104...16,364,420
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                amelogenesis imperfecta hypomaturation type 2A4 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            mouth disease 1044
              tooth disease 468
                Tooth Abnormalities 301
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      Amelogenesis Imperfecta Hypomaturation Type 6
                        amelogenesis imperfecta hypomaturation type 2A4 1
paths to the root