ONTOLOGY REPORT - ANNOTATIONS


Term:Cornelia de Lange syndrome
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Accession:DOID:11725 term browser browse the term
Definition:A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
Synonyms:exact_synonym: BDLS;   Brachmann De Lange syndrome;   CDL;   CDLS;   CDLS1;   CDLS3;   CdLS, X-Linked;   Cornelia de Lange Syndrome 1;   Cornelia de Lange Syndrome 3;   De Lange's Syndrome;   de Lange syndrome;   typus degenerativus amstelodamensis
 primary_id: MESH:D003635
 alt_id: OMIM:122470;   OMIM:610759;   RDO:0002035
 xref: GARD:10109;   OMIM:PS122470;   ORDO:199
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Cornelia de Lange syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brd4 bromodomain containing 4 JBrowse link 7 14,222,101 14,303,055 RGD:11554173
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:7240710
RGD:8554872
RGD:11554173
G Pds5a PDS5 cohesin associated factor A JBrowse link 14 44,185,445 44,282,308 RGD:13592920
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:11554173
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
RGD:11554173
G Smc3 structural maintenance of chromosomes 3 JBrowse link 1 274,310,120 274,352,856 RGD:7240710
RGD:8554872
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
Cornelia De Lange Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
RGD:7240710
Cornelia De Lange Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:7240710
RGD:8554872
Cornelia De Lange Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmrtc1a DMRT-like family C1a JBrowse link X 72,624,660 72,654,258 RGD:8554872
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
RGD:7240710
RGD:11068490
RGD:13208817
G Nap1l2 nucleosome assembly protein 1-like 2 JBrowse link X 73,997,274 73,999,677 RGD:8554872
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A JBrowse link X 73,894,603 73,895,742 RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Cornelia de Lange syndrome 15
        Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
        Cornelia De Lange Syndrome 2 2
        Cornelia De Lange Syndrome 4 1
        Cornelia De Lange Syndrome 5 5
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    Cornelia de Lange syndrome 15
                      Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
                      Cornelia De Lange Syndrome 2 2
                      Cornelia De Lange Syndrome 4 1
                      Cornelia De Lange Syndrome 5 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.