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RGD uses the Human Disease Ontology (DO, 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.

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Accession:DOID:9001233 term browser browse the term
Definition:This disease is an autosomal dominant disorder characterized by a recognizable pattern of anomalies including developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive.
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff3 AF4/FMR2 family, member 3 ISO ClinVar Annotator: match by term: KINSSHIP SYNDROME ClinVar
PMID:31388108 PMID:33961779 NCBI chr 9:40,399,109...40,856,716
Ensembl chr 9:40,404,375...40,857,247
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Neurodevelopmental Disorders 5786
        Developmental Disabilities 572
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  intellectual disability 3518
                    KINSSHIP SYNDROME 1
paths to the root