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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;   MSMO1-RELATED CONDITION;   SC4MOL DEFICIENCY
 primary_id: MIM: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 monooxygenase 1 ISO ClinVar Annotator: match by term: MSMO1-related condition | ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM
ClinVar		 PMID:21285510 PMID:24144731 PMID:25741868 PMID:28492532 NCBI chr16:29,747,113...29,764,360
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    physical disorder 5192
      congenital nervous system abnormality 1536
        microcephaly 1146
          Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal dominant disease 6779
                complex cortical dysplasia with other brain malformations 1641
                  Malformations of Cortical Development, Group I 1399
                    microcephaly 1146
                      Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
paths to the root