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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:syndromic X-linked intellectual disorder Lujan-Fryns-type
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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 Fryns Syndrome;   Lujan 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
 primary_id: MESH:C537724
 alt_id: DOID:9001908;   OMIM:309520
 xref: GARD:3307
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:309520
DNA:missense mutation:cds:p.N1007S(human)
ClinVar Annotator: match by term: Lujan Fryns syndrome
ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome
OMIM
ClinVar
PMID:6711603 PMID:10405444 PMID:17334363 PMID:17369503 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24077912 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26350204 PMID:28369444 PMID:28492532, PMID:17369503 RGD:12910949 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Marfan syndrome 210
        syndromic X-linked intellectual disorder Lujan-Fryns-type 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            disease of mental health 7036
              developmental disorder of mental health 4371
                specific developmental disorder 3629
                  intellectual disability 3441
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 717
                        syndromic X-linked intellectual disability 589
                          syndromic X-linked intellectual disorder Lujan-Fryns-type 1
paths to the root