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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:X-linked mental retardation-hypotonic facies syndrome-1
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Accession:DOID:0080982 term browser browse the term
Definition:A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. (DO)
Synonyms:exact_synonym: Carpenter-Waziri syndrome;   Chudley Lowry Hoar syndrome;   Chudley mental retardation syndrome;   Chudley syndrome 1;   Chudley-Lowry Syndrome;   Holmes-Gang syndrome;   MRXHF1;   SFM1;   SFMS;   Smith-Fineman-Myers syndrome 1;   X-Linked Mental Retardation-Hypotonic Facies Syndrome;   X-linked hypogonadism gynecomastia mental retardation;   XLMR-HYPOTONIC FACIES SYNDROME
 broad_synonym: ATRX-RELATED DISORDER
 primary_id: MESH:C537457
 alt_id: DOID:9005524;   OMIM:309580
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked mental retardation-hypotonic facies syndrome-1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human)
DNA:nonsense mutation:exon:324C>T (p.R37X) (human)
ClinVar Annotator: match by OMIM:309580
ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome, X-linked
DNA:mutation:exon:c. 6740A>C (p.H224P)(human)
ClinVar Annotator: match by term: ATRX-Related Disorder
ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1
ClinVar Annotator: match by term: XLMR-HYPOTONIC FACIES SYNDROME
OMIM
ClinVar
RGD
PMID:1684092 PMID:3239563 PMID:6682021 PMID:6711605 PMID:8630485 More... RGD:1599406, RGD:11040909, RGD:13442490 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Holmes-Gang syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Growth Disorders 783
          X-linked mental retardation-hypotonic facies syndrome-1 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 718
                        syndromic X-linked intellectual disability 590
                          X-linked mental retardation-hypotonic facies syndrome-1 2
paths to the root