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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


show annotations for term's descendants           Sort by:
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: Alopecia mental retardation syndrome 1 | 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 chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999 		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 ISO ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 ClinVar PMID:25741868 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
G Lss lanosterol synthase ISO 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 chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      alopecia-mental retardation syndrome 3
        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 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              hair disease 328
                hypotrichosis 148
                  alopecia 94
                    alopecia-mental retardation syndrome 3
                      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 2
paths to the root