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neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies - Ontology Report - Rat Genome Database

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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:neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
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Accession:DOID:0070346 term browser browse the term
Definition:A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. (DO)
Synonyms:exact_synonym: INTS1-RELATED CONDITION;   NDCAGF
 primary_id: MIM:618571
 xref: EFO:0010561

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neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chrNW_004624740:26,952,076...26,983,595
Ensembl chrNW_004624740:26,956,688...26,983,394 		JBrowse link
G G INTS1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr28:20,098,155...20,132,683
Ensembl chr28:20,098,586...20,132,859 		JBrowse link
G P INTS1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr 3:979,403...1,005,584
Ensembl chr 3:979,405...1,005,527 		JBrowse link
G S Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chrNW_004936754:1,597,574...1,626,578
Ensembl chrNW_004936754:1,597,575...1,626,398 		JBrowse link
G D INTS1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr 6:15,453,491...15,483,240
Ensembl chr 6:15,447,391...15,483,239 		JBrowse link
G B INTS1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr 7:1,719,254...1,753,150
Ensembl chr 7:1,838,302...1,871,554 		JBrowse link
G C Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chrNW_004955460:9,116,650...9,149,470
Ensembl chrNW_004955460:9,116,891...9,143,120 		JBrowse link
G R Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr12:14,861,312...14,886,048
Ensembl chr12:14,861,318...14,886,037 		JBrowse link
G M Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr 5:139,737,037...139,761,455
Ensembl chr 5:139,737,037...139,761,429 		JBrowse link
G H INTS1 integrator complex subunit 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 		ClinVar
OMIM		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G H LOC129997774 ATAC-STARR-seq lymphoblastoid silent region 17854 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ClinVar PMID:25741868 NCBI chr 7:1,504,035...1,504,594 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    syndrome 133709
      neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 11
Path 2
Term Annotations click to browse term
  disease 292546
    disease of anatomical entity 276172
      nervous system disease 194347
        Neurologic Manifestations 126851
          sensory system disease 89671
            eye disease 42492
              lens disease 5695
                cataract 5574
                  neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 11
paths to the root