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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;   MIM: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: AHSG-related condition | 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 chr11:91,625,975...91,632,583
Ensembl chr11:91,625,975...91,634,039 		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 chr19:9,261,290...9,352,636
Ensembl chr19:9,261,294...9,352,636 		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 chr20:12,090,641...12,118,230
Ensembl chr20:12,073,543...12,118,253 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11436
      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 19150
    disease of anatomical entity 18458
      nervous system disease 14370
        Neurologic Manifestations 10484
          sensory system disease 7403
            skin disease 4342
              hair disease 334
                hypotrichosis 151
                  alopecia 96
                    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