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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:Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
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Accession:DOID:9008036 term browser browse the term
Synonyms:exact_synonym: Pai Levkoff syndrome;   Pai syndrome;   median cleft of upper lip with polyps of facial skin and nasal mucosa
 primary_id: MESH:C536135
 alt_id: OMIM:155145



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      skin disease 3772
        Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Congenital Abnormalities 7497
          Musculoskeletal Abnormalities 3270
            Craniofacial Abnormalities 2638
              Maxillofacial Abnormalities 310
                Jaw Abnormalities 262
                  orofacial cleft 153
                    cleft lip 59
                      Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
paths to the root