Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:syndromic X-linked intellectual disorder Lujan-Fryns-type
go back to main search page
Accession:DOID:0080985 term browser browse the term
Definition:A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. (DO)
Synonyms:exact_synonym: Lujan syndrome;   Lujan-Fryns syndrome;   MRXSLF;   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;   X-linked mental retardation with marfanoid habitus 1;   X-linked mental retardation with marfanoid habitus syndrome;   XLMR with Marfanoid Features;   syndromic X-linked intellectual developmental disorder, Lujan-Fryns type
 broad_synonym: MED12-RELATED INTELLECTUAL DISABILITY SYNDROME
 alt_id: DOID:9001908
 xref: GARD:3307;   MESH:C537724;   MIM:309520;   MONDO:0010655


show annotations for term's descendants           Sort by:
syndromic X-linked intellectual disorder Lujan-Fryns-type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO DNA:missense mutation:cds:p.N1007S(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, with marfanoid habitus | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 More... RGD:12910949 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      Marfan syndrome 233
        syndromic X-linked intellectual disorder Lujan-Fryns-type 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              developmental disorder of mental health 5647
                specific developmental disorder 4611
                  intellectual disability 4384
                    X-Linked Intellectual Developmental Disorders 824
                      syndromic X-linked intellectual disability 619
                        syndromic X-linked intellectual disorder Lujan-Fryns-type 1
paths to the root