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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:NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
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Accession:DOID:9001002 term browser browse the term
Definition:A global neurodevelopmental disorder with highly variable features. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet.
Synonyms:exact_synonym: NEDDFSA;   ZMIZ1-RELATED CONDITION
 alt_id: MIM:618659
 xref: EFO:0010659


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NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmiz1 zinc finger, MIZ-type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | ClinVar Annotator: match by term: ZMIZ1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:30639322 PMID:38686122 NCBI chr16:1,033,983...1,239,425
Ensembl chr16:1,034,020...1,239,406 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Neurodevelopmental Disorders 6980
        NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      nervous system disease 14371
        central nervous system disease 12649
          brain disease 0
            disease of mental health 8487
              Neurodevelopmental Disorders 6980
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES 1
paths to the root