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ONTOLOGY REPORT - ANNOTATIONS


Term:NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
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Accession:DOID:9005194 term browser browse the term
Definition:A severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. (OMIM)
Synonyms:exact_synonym: NMIHBA
 primary_id: OMIM:617481;   RDO:9001719
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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prune1 prune exopolyphosphatase 1 JBrowse link 2 196,427,714 196,457,105 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Neurodevelopmental Disorders 2761
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 1
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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Nervous System Malformations 652
            complex cortical dysplasia with other brain malformations 405
              Malformations of Cortical Development, Group I 266
                microcephaly 203
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE 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.