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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
For additional species annotation, visit the Alliance of Genome Resources.



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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: Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM
ClinVar
PMID:21285510 PMID:24144731 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    physical disorder 4045
      congenital nervous system abnormality 1362
        microcephaly 1103
          Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
paths to the root