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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 mental retardation syndrome;   Chudley syndrome 1;   Chudley-Lowry syndrome;   Chudley-Lowry-Hoar 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;   X-linked intellectual disability-hypotonic facies syndrome;   XLMR-hypotonic facies syndrome
 broad_synonym: ATRX-RELATED DISORDER
 primary_id: MESH:C537457
 alt_id: DOID:9005524;   OMIM:309580


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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)
DNA:mutation:exon:c. 6740A>C (p.H224P)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1		 OMIM
CTD
ClinVar
RGD		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 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: Carpenter-Waziri 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
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:25741868 NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Pathologic Processes 7991
        Growth Disorders 1012
          X-linked mental retardation-hypotonic facies syndrome-1 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    syndromic intellectual disability 758
                      syndromic X-linked intellectual disability 619
                        X-linked mental retardation-hypotonic facies syndrome-1 3
paths to the root