ONTOLOGY REPORT - ANNOTATIONS


Term:Ter Haar Syndrome
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Accession:DOID:9001659 term browser browse the term
Synonyms:exact_synonym: BORRONE DERMATOCARDIOSKELETAL SYNDROME;   Borrone Di Rocco Crovato Syndrome;   FTHS;   Frank Ter Haar syndrome;   MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE;   Megalocornea, multiple skeletal anomalies, and developmental delay
 primary_id: MESH:C537274
 alt_id: DOID:9007566;   MESH:C536577;   OMIM:249420;   RDO:0002202;   RDO:0003085
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Ter Haar Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Ter Haar Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              Neurodevelopmental Disorders 2756
                Developmental Disabilities 342
                  Ter Haar Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.