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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:alopecia-mental retardation syndrome 1
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Accession:DOID:0080628 term browser browse the term
Definition:An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. (DO)
Synonyms:exact_synonym: AHSG-RELATED CONDITION;   AMR Syndrome;   APMR1;   alopecia-intellectual disability syndrome 1
 primary_id: MESH:C565965
 alt_id: MIM:203650


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alopecia-mental retardation syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: AHSG-related condition | ClinVar Annotator: match by term: AMR SYNDROME | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9003486 PMID:15592877 PMID:15806395 PMID:25741868 PMID:28054173 More... NCBI chr11:91,625,975...91,632,583
Ensembl chr11:91,625,975...91,634,039 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      alopecia-mental retardation syndrome 3
        alopecia-mental retardation syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              hair disease 334
                hypotrichosis 152
                  alopecia 95
                    alopecia-mental retardation syndrome 3
                      alopecia-mental retardation syndrome 1 1
paths to the root