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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: ICD10CM:Q85.0;   ORDO:97685
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      chromosomal deletion syndrome 506
        chromosome 17q11.2 deletion syndrome, 1.4Mb 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                ectodermal dysplasia 252
                  Neurocutaneous Syndromes 126
                    neurofibromatosis 13
                      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.