ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 17q11.2 deletion syndrome, 1.4Mb
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Accession:DOID:0060403 term browser browse the term
Synonyms:exact_synonym: 17q11 microdeletion syndrome;   MMFD;   Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome;   NF1 microdeletion syndrome;   Van Asperen syndrome;   macrocephaly, macrosomia, facial dysmorphism syndrome;   neurofibromatosis type 1 microdeletion syndrome
 primary_id: MESH:C563524
 alt_id: OMIM:613675;   OMIM:614192;   RDO:0012759;   RDO:9000673
 xref: ORDO:97685
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chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      chromosomal deletion syndrome 325
        chromosome 17q11.2 deletion syndrome, 1.4Mb 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
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  communication disorder 214
                    learning disability 74
                      chromosome 17q11.2 deletion syndrome, 1.4Mb 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.