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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:NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
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Accession:DOID:9003425 term browser browse the term
Definition:A disease characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes.
Synonyms:exact_synonym: HS2ST1-RELATED CONDITION;   NEURODEVELOPMENTAL DISORDER WITH CORPUS CALLOSUM AGENESIS, CRANIOFACIAL DYSMORPHISM, AND SKELETAL ANOMALIES, WITH OR WITHOUT RENAL AGENESIS;   NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS;   NFSRA
 primary_id: MIM:619194


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NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs2st1 heparan sulfate 2-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: HS2ST1-related condition | ClinVar Annotator: match by term: Neurofacioskeletal syndrome with or without renal agenesis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33159882 NCBI chr 2:233,508,018...233,641,769
Ensembl chr 2:233,508,021...233,641,769 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              Neurodevelopmental Disorders 6965
                NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS 1
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