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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 CKAP2L 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 NCBI chr 3:121,796,221...121,822,352
Ensembl chr 3:121,796,238...121,822,436
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Filippi syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    microcephaly 872
                      Filippi syndrome 1
paths to the root