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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:Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
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Accession:DOID:9002853 term browser browse the term
Definition:An inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols.
Synonyms:exact_synonym: MCCPD;   MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS;   SC4MOL DEFICIENCY
 primary_id: OMIM:616834


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Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monoxygenase 1 ISO ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21285510 PMID:24144731 NCBI chr 8:65,171,157...65,186,822
Ensembl chr 8:65,171,173...65,186,826 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    physical disorder 5003
      congenital nervous system abnormality 1499
        microcephaly 1131
          Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
Path 2
Term Annotations click to browse term
  disease 18302
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10373
            autosomal genetic disease 9546
              autosomal dominant disease 6298
                complex cortical dysplasia with other brain malformations 1600
                  Malformations of Cortical Development, Group I 1382
                    microcephaly 1131
                      Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
paths to the root