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;   RDO:9001752
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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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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Neurodevelopmental Disorders 2768
        NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                microcephaly 209
                  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.