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ONTOLOGY REPORT - ANNOTATIONS


Term:Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
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Accession:DOID:9006140 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. (OMIM)
Synonyms:exact_synonym: NDMSBA
 primary_id: OMIM:617527
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Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plaa phospholipase A2, activating protein JBrowse link 5 113,548,913 113,578,928 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15469
    Developmental Diseases 8823
      Neurodevelopmental Disorders 4095
        Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 1
Path 2
Term Annotations click to browse term
  disease 15469
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7614
        genetic disease 7099
          monogenic disease 4781
            autosomal genetic disease 3756
              autosomal dominant disease 2226
                complex cortical dysplasia with other brain malformations 492
                  Malformations of Cortical Development, Group I 347
                    microcephaly 218
                      Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.