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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: FOXP2-RELATED CONDITION;   SPCH1;   childhood apraxia of speech;   developmental apraxia of speech;   speech and language disorder with orofacial dyspraxia;   speech-language disorder type 1
 primary_id: MIM:602081
 xref: GARD:12889;   ORDO:209908


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speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh18 cadherin 18 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 2:72,818,076...73,820,144 JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
DNA:deletions: :multiple
DNA:mutations:5' utr, exon, intron:multiple
DNA:missense mutation: :p.P215A (human)
DNA:missense mutation:exon:p.R553H (human)
ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: Speech-language disorder 1		 OMIM
ClinVar
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11070093, RGD:11526702, RGD:11526862, RGD:11536000, RGD:11072822 NCBI chr 4:44,099,848...44,677,700 JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:58,070,035...58,970,165 JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:58,489,060...58,520,322 JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 2:216,012,911...216,075,608 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Language Development Disorders 74
        speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  communication disorder 421
                    language disorder 172
                      speech disorder 85
                        speech-language disorder-1 5
paths to the root