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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:Ulnar Hypoplasia with Mental Retardation
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Accession:DOID:9008491 term browser browse the term
Synonyms:exact_synonym: Bilateral ulnar hypoplasia and mental retardation;   Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation;   Mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation;   Ulna Hypoplasia with Mental Retardation
 primary_id: MESH:C536934;   MESH:C564757
 alt_id: OMIM:276821



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      bone development disease 2307
        Ulnar Hypoplasia with Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        Congenital Abnormalities 7581
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Lower Extremity Deformities, Congenital 183
                Congenital Foot Deformities 175
                  Talipes 47
                    clubfoot 34
                      Ulnar Hypoplasia with Mental Retardation 0
paths to the root