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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:KINSSHIP syndrome
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Accession:DOID:0112383 term browser browse the term
Definition:A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. (DO)
Synonyms:exact_synonym: KINS;   MESOMELIC DYSPLASIA, AFF3-RELATED;   MESOMELIC DYSPLASIA, STEICHEN-GERSDORF TYPE;   horseshoe KIdney, Nievergelt/Savarirayan mesomelic dysplasia, Seizures, Hypertrichosis, impaired Intellectual development, Pulmonary involvement
 primary_id: OMIM:619297
 alt_id: DOID:9001233


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KINSSHIP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff3 ALF transcription elongation factor 3 ISO
ISS		 ClinVar Annotator: match by term: KINSSHIP syndrome
OMIM:619297		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:31388108 PMID:33961779 NCBI chr 9:40,399,099...40,856,716
Ensembl chr 9:40,404,375...40,857,247 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      KINSSHIP syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    KINSSHIP syndrome 1
paths to the root