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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:Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
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Accession:DOID:9005524 term browser browse the term
Definition:The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 (ATRX) gene on chromosome Xq13 and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. (OMIM)
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;   RDO:0003301
 alt_id: OMIM:309580
For additional species annotation, visit the Alliance of Genome Resources.


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Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 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
PMID:1684092 PMID:3239563 PMID:6682021 PMID:6711605 PMID:8630485 PMID:8968741 PMID:9043863 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10751095 PMID:10995512 PMID:11050622 PMID:15508018 PMID:15565397 PMID:15591283 PMID:16222662 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:24327140 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284, PMID:8630485, PMID:10632111, PMID:26997013 RGD:1599406, RGD:11040909, RGD:13442490 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
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 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Pathological Conditions, Signs and Symptoms 8840
      Pathologic Processes 6201
        Growth Disorders 324
          Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    syndromic intellectual disability 693
                      Mental Retardation, X-Linked 669
                        syndromic X-linked intellectual disability 589
                          Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 2
paths to the root