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ONTOLOGY REPORT - ANNOTATIONS


Term:MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
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Accession:DOID:9000271 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. (OMIM)
Synonyms:exact_synonym: MDFPMR
 primary_id: OMIM:617011
 alt_id: RDO:9001229
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MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Pathological Conditions, Signs and Symptoms 7743
      Pathologic Processes 4927
        Disease Attributes 443
          Facies 134
            MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            complex cortical dysplasia with other brain malformations 405
              Malformations of Cortical Development, Group I 266
                Macrocephaly 54
                  MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.