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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


show annotations for term's descendants           Sort by:
Filippi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CKAP2L cytoskeleton associated protein 2 like IAGP
EXP		 ClinVar Annotator: match by term: Filippi syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G NT5DC4 5'-nucleotidase domain containing 4 IAGP ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:112,718,876...112,742,879
Ensembl chr 2:112,721,020...112,742,879 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Filippi syndrome 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal dominant disease 10884
                complex cortical dysplasia with other brain malformations 2173
                  Malformations of Cortical Development, Group I 1862
                    microcephaly 1521
                      Filippi syndrome 2
paths to the root