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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: NEURODEVELOPMENTAL DISORDER WITH CORPUS CALLOSUM AGENESIS, CRANIOFACIAL DYSMORPHISM, AND SKELETAL ANOMALIES, WITH OR WITHOUT RENAL AGENESIS;   NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS;   NFSRA
 pimary_id: OMIM:619194
For additional species annotation, visit the Alliance of Genome Resources.


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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: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ClinVar
OMIM
PMID:33159882 NCBI chr 2:250,467,428...250,600,517
Ensembl chr 2:250,467,429...250,600,517
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              Neurodevelopmental Disorders 5572
                NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS 1
paths to the root