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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
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Accession:DOID:0080627 term browser browse the term
Definition:A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. (DO)
Synonyms:xref: GARD:612;   OMIM:PS203650;   ORDO:2850


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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 IAGP
EXP		 ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1		 ClinVar
CTD
OMIM		 PMID:9003486 PMID:15592877 PMID:15806395 PMID:25741868 PMID:28054173 More... NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
alopecia-mental retardation syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 ClinVar PMID:25741868 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G LOC112694753 Sharpr-MPRA regulatory region 3947 IAGP ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 ClinVar PMID:25741868 NCBI chr21:46,228,815...46,229,109 JBrowse link
G LOC130066869 ATAC-STARR-seq lymphoblastoid silent region 13414 IAGP ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 ClinVar PMID:25741868 NCBI chr21:46,228,639...46,228,808 JBrowse link
G LSS lanosterol synthase IAGP ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4
ClinVar Annotator: match by term: Alopecia-mental retardation syndrome 4		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30401459 More... NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      alopecia-mental retardation syndrome 5
        Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 0
        alopecia-mental retardation syndrome 1 1
        alopecia-mental retardation syndrome 2 0
        alopecia-mental retardation syndrome 3 0
        alopecia-mental retardation syndrome 4 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9728
            skin disease 4874
              hair disease 387
                hypotrichosis 167
                  alopecia 97
                    alopecia-mental retardation syndrome 5
                      Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 0
                      alopecia-mental retardation syndrome 1 1
                      alopecia-mental retardation syndrome 2 0
                      alopecia-mental retardation syndrome 3 0
                      alopecia-mental retardation syndrome 4 4
paths to the root