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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:Hao-Fountain Syndrome
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Accession:DOID:9001064 term browser browse the term
Definition:This disease is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies.
Synonyms:exact_synonym: HAFOUS;   USP7-RELATED NEURODEVELOPMENTAL DISORDER;   intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies
 related_synonym: chromosome 16p13.2 deletion syndrome
 primary_id: OMIM:616863


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Hao-Fountain Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019 		JBrowse link
G Mettl22 methyltransferase 22, Kin17 lysine ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr10:7,113,602...7,130,715
Ensembl chr10:7,113,660...7,130,654 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Tmem114 transmembrane protein 114 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr10:7,168,998...7,185,251
Ensembl chr10:7,169,746...7,185,251 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26365382 PMID:28492532 More... NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Neurodevelopmental Disorders 6834
        Hao-Fountain Syndrome 7
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            disease of mental health 8308
              Neurodevelopmental Disorders 6834
                Hao-Fountain Syndrome 7
paths to the root