Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:deafness-intellectual disability, Martin-Probst type syndrome
go back to main search page
Accession:DOID:0060830 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. (DO)
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE;   MRXSMP;   Martin-Probst Deafness-Mental Retardation Syndrome;   Martin-Probst syndrome
 primary_id: MESH:C564495;   RDO:0013440
 alt_id: OMIM:300519
 xref: ORDO:85321
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      deafness-intellectual disability, Martin-Probst type syndrome 0
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 658
                        syndromic X-linked intellectual disability 584
                          deafness-intellectual disability, Martin-Probst type syndrome 0
paths to the root

NHLBI Logo

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