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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:Floating-Harbor syndrome
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Accession:DOID:0111358 term browser browse the term
Definition:A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: FLHS;   Leisti-Hollander-Rimoin syndrome;   Pelletier-Leisti syndrome
 primary_id: MESH:C537062
 alt_id: OMIM:136140
 xref: GARD:6455;   NCI:C175241;   ORDO:2044
For additional species annotation, visit the Alliance of Genome Resources.


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Floating-Harbor syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by OMIM:136140
ClinVar Annotator: match by term: Floating-Harbor syndrome
OMIM
ClinVar
PMID:11522779 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 More... NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Floating-Harbor syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Cardiovascular Abnormalities 1138
            congenital heart disease 1080
              heart septal defect 134
                ventricular septal defect 85
                  Floating-Harbor syndrome 1
paths to the root