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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
 narrow_synonym: ABNORMALITY OF THE CEREBRUM
 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: Abnormality of the cerebrum | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar
PMID:25741868 PMID:31495489 NCBI chr11:83,362,534...83,386,257
Ensembl chr11:83,362,534...83,386,250
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Neurodevelopmental Disorders 6154
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          monogenic disease 8606
            autosomal genetic disease 7607
              autosomal dominant disease 5130
                complex cortical dysplasia with other brain malformations 1438
                  Malformations of Cortical Development, Group I 1283
                    microcephaly 1107
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 1
paths to the root