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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: 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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 2:73,651,408...74,693,342
Ensembl chr 2:74,360,622...74,693,341
JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: CHILDHOOD APRAXIA OF SPEECH
ClinVar Annotator: match by term: Speech-language disorder 1
ClinVar Annotator: match by OMIM:602081
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)
OMIM
ClinVar
PMID:2332125, PMID:11586359, PMID:15877281, PMID:16470794, PMID:16984964, PMID:17033973, PMID:17330859, PMID:20858596, PMID:22105961, PMID:22106036, PMID:22144704, PMID:22434823, PMID:22766611, PMID:23918746, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386, PMID:16984964, PMID:17033973, PMID:15877281, PMID:19352412, PMID:11586359 RGD:11070093, RGD:11526702, RGD:11526862, RGD:11536000, RGD:11072822 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 6:60,958,351...61,859,457 JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 6:61,374,328...61,405,195
Ensembl chr 6:61,374,328...61,405,195
JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 2:231,881,893...231,944,760
Ensembl chr 2:231,884,337...231,940,877
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Language Development Disorders 134
        speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  communication disorder 295
                    language disorder 207
                      speech disorder 75
                        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.