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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 POOR GROWTH AND SKELETAL ANOMALIES
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Accession:DOID:9003634 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies.
Synonyms:exact_synonym: NEDGS
 primary_id: MIM:619880


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NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdhga1 protocadherin gamma subfamily A, 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,487,404...29,667,865
Ensembl chr18:29,487,482...29,492,857
Ensembl chr18:29,487,482...29,492,857 		JBrowse link
G Pcdhga10 protocadherin gamma subfamily A, 10 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,574,693...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga11 protocadherin gamma subfamily A, 11 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,583,373...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga12 protocadherin gamma subfamily A, 12 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,592,664...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga2 protocadherin gamma subfamily A, 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,493,954...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga3 protocadherin gamma subfamily A, 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,499,148...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga4 protocadherin gamma subfamily A, 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,508,152...29,543,103 JBrowse link
G Pcdhga5 protocadherin gamma subfamily A, 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,519,705...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga7 protocadherin gamma subfamily A, 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,543,018...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga8 protocadherin gamma subfamily A, 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,553,882...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga9 protocadherin gamma subfamily A, 9 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,564,614...29,667,865 JBrowse link
G Pcdhgb1 protocadherin gamma subfamily B, 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,501,739...29,508,024 JBrowse link
G Pcdhgb7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,579,129...29,667,868
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhgb8 protocadherin gamma subfamily B, 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,588,327...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhgc3 protocadherin gamma subfamily C, 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr18:29,633,016...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES 15
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              Neurodevelopmental Disorders 6965
                NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES 15
paths to the root