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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:Filippi syndrome
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Accession:DOID:0112194 term browser browse the term
Definition:A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. (DO)
Synonyms:exact_synonym: FLPIS;   Scott Bryant Graham Syndrome;   Scott craniodigital syndrome with mental retardation;   craniodigital syndrome with mental retardation;   craniodigital syndrome-mental retardation, Scott type;   syndactyly type I with microcephaly and mental retardation;   type 1 syndactyly-microcephaly-intellectual disability syndrome
 primary_id: MESH:C538152
 alt_id: MESH:C537528;   OMIM:272440
 xref: GARD:62;   ORDO:3255


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Filippi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: Filippi syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Filippi syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal dominant disease 6308
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group I 1379
                    microcephaly 1130
                      Filippi syndrome 1
paths to the root