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ONTOLOGY REPORT - ANNOTATIONS


Term:speech-language disorder-1
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Accession:DOID:0111275 term browser browse the term
Definition:A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. (DO)
Synonyms:exact_synonym: SPCH1;   childhood apraxia of speech;   developmental apraxia of speech;   speech and language disorder with orofacial dyspraxia;   speech-language disorder type 1
 primary_id: OMIM:602081
 alt_id: DOID:9001736;   RDO:0008847
 xref: GARD:12889;   ORDO:209908
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speech-language disorder-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh18 cadherin 18 JBrowse link 2 73,651,408 74,693,342 RGD:8554872
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:7240710
RGD:8554872
RGD:11070093
RGD:11526702
RGD:11526862
RGD:11536000
RGD:11072822
G Immp2l inner mitochondrial membrane peptidase subunit 2 JBrowse link 6 60,958,351 61,859,457 RGD:8554872
G Lrrn3 leucine rich repeat neuronal 3 JBrowse link 6 61,374,328 61,405,195 RGD:8554872
G Zgrf1 zinc finger, GRF-type containing 1 JBrowse link 2 231,881,893 231,944,760 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Language Development Disorders 87
        speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  communication disorder 212
                    language disorder 136
                      speech disorder 49
                        speech-language disorder-1 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.