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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 MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
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Accession:DOID:9001150 term browser browse the term
Definition:An autosomal recessive disorder characterized by severe global developmental delay.
Synonyms:exact_synonym: NEDMABA
 primary_id: OMIM:618622
For additional species annotation, visit the Alliance of Genome Resources.


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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
OMIM
ClinVar
PMID:25741868 PMID:31495489 NCBI chr11:87,522,971...87,546,687
Ensembl chr11:87,522,971...87,546,687
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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
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          monogenic disease 6354
            autosomal genetic disease 5505
              autosomal dominant disease 3758
                complex cortical dysplasia with other brain malformations 1164
                  Malformations of Cortical Development, Group I 1024
                    microcephaly 873
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 1
paths to the root