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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 the SRCAP gene on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: FLHS;   Leisti-Hollander-Rimoin syndrome;   Pelletier-Leisti syndrome
 broad_synonym: SRCAP-RELATED CONDITION
 primary_id: MESH:C537062
 alt_id: MIM:136140
 xref: GARD:6455;   NCI:C175241;   ORDO:2044


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Floating-Harbor syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:17576681 PMID:18414213 More... NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      Floating-Harbor syndrome 2
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        Congenital Abnormalities 7883
          Cardiovascular Abnormalities 1610
            congenital heart disease 1408
              heart septal defect 223
                ventricular septal defect 163
                  Floating-Harbor syndrome 2
paths to the root