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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: OMIM:602081
 xref: GARD:12889;   ORDO:209908


show annotations for term's descendants           Sort by:
speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH18 cadherin 18 IAGP ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 5:19,471,296...20,575,713
Ensembl chr 5:19,471,296...20,575,873 		JBrowse link
G FOXP2 forkhead box P2 no_association IAGP DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
ClinVar Annotator: match by term: Childhood apraxia of speech
ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition
DNA:deletions: :multiple
DNA:mutations:5' utr, exon, intron:multiple
DNA:missense mutation: :p.P215A (human)
DNA:missense mutation:exon:p.R553H (human)		 ClinVar
OMIM
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11070093, RGD:11526702, RGD:11526862, RGD:11536000, RGD:11072822 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G IMMP2L inner mitochondrial membrane peptidase subunit 2 IAGP ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 7:110,662,644...111,562,492
Ensembl chr 7:110,662,644...111,562,517 		JBrowse link
G LRRN3 leucine rich repeat neuronal 3 IAGP ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 7:111,091,127...111,125,454
Ensembl chr 7:111,091,006...111,125,454 		JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 IAGP ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 4:112,539,339...112,636,909
Ensembl chr 4:112,539,333...112,636,995 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Language Development Disorders 83
        speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  communication disorder 605
                    language disorder 221
                      speech disorder 110
                        speech-language disorder-1 5
paths to the root