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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:Haspeslagh Fryns Muelenaere Syndrome
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Accession:DOID:9001755 term browser browse the term
Synonyms:exact_synonym: Haspeslagh syndrome;   distinctive craniofacial features with pterygia and mental retardation;   mental retardation with pterygia, shortness and distinct facial appearance;   pterygia, impaired intellectual development, and distinctive craniofacial features;   pterygia, mental retardation, and distinctive craniofacial features
 primary_id: MESH:C535844
 alt_id: MIM:177980


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    syndrome 10594
      Haspeslagh Fryns Muelenaere Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15754
    disease of anatomical entity 15375
      nervous system disease 13503
        central nervous system disease 12069
          brain disease 11335
            disease of mental health 8213
              developmental disorder of mental health 5598
                specific developmental disorder 4571
                  intellectual disability 4367
                    Haspeslagh Fryns Muelenaere Syndrome 0
paths to the root