FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:Lujan Fryns Syndrome
go back to main search page
Accession:DOID:9001908 term browser browse the term
Synonyms:exact_synonym: Lujan Syndrome;   Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies;   X-Linked Intellectual Deficit with Marfanoid Habitus;   X-Linked Mental Retardation with Marfanoid Habitus;   XLMR with Marfanoid Features
 primary_id: MESH:C537724;   RDO:0003614
 alt_id: OMIM:309520
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Lujan Fryns Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910949

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Lujan Fryns Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        Lujan Fryns Syndrome 1
paths to the root