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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: AFF3-RELATED CONDITION;   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: MIM: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		 OMIM:619297
ClinVar Annotator: match by term: AFF3-related condition | ClinVar Annotator: match by term: KINSSHIP syndrome		 OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31388108 PMID:33961779 NCBI chr 9:47,894,903...48,352,380
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 19139
    syndrome 11404
      KINSSHIP syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              developmental disorder of mental health 5653
                specific developmental disorder 4621
                  intellectual disability 4391
                    KINSSHIP syndrome 1
paths to the root