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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, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation. (DO)
Synonyms:xref: GARD:612;   OMIM:PS203650;   ORDO:2850
For additional species annotation, visit the Alliance of Genome Resources.



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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: Alopecia mental retardation syndrome 1 ClinVar
OMIM
PMID:9003486 PMID:15592877 PMID:15806395 PMID:25741868 PMID:28054173 NCBI chr11:78,117,903...78,145,956
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-MENTAL RETARDATION 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-MENTAL RETARDATION SYNDROME 4 OMIM
ClinVar
PMID:25741868 PMID:30401459 PMID:30723320 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 17445
    syndrome 8267
      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 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  intellectual disability 3518
                    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