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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Mullegama-Klein-Martinez syndrome
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Accession:DOID:0111845 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in STAG2 on chromosome Xq25. (DO)
Synonyms:exact_synonym: MKMS;   NEDXCF;   X-linked neurodevelopmental disorder with craniofacial abnormalities
 broad_synonym: STAG2-related disorder
 primary_id: OMIM:301022
For additional species annotation, visit the Alliance of Genome Resources.


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Mullegama-Klein-Martinez syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag2 stromal antigen 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES
ClinVar Annotator: match by term: MULLEGAMA-KLEIN-MARTINEZ SYNDROME
ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome
OMIM
ClinVar
PMID:25741868 PMID:28296084 PMID:29263825 PMID:30158690 PMID:31334757 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      musculoskeletal system disease 6245
        Musculoskeletal Abnormalities 2135
          Craniofacial Abnormalities 1858
            Mullegama-Klein-Martinez syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    syndromic intellectual disability 752
                      Mental Retardation, X-Linked 717
                        syndromic X-linked intellectual disability 588
                          Mullegama-Klein-Martinez syndrome 1
paths to the root