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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. (OMIM)
Synonyms:exact_synonym: MCCPD;   MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS;   SC4MOL DEFICIENCY
 primary_id: OMIM:616834;   RDO:9000354
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 CATARACTS, AND PSORIASIFORM DERMATITIS
ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis
ClinVar
OMIM
PMID:21285510 PMID:24144731 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      congenital nervous system abnormality 1031
        microcephaly 887
          MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                complex cortical dysplasia with other brain malformations 1183
                  Malformations of Cortical Development, Group I 1042
                    microcephaly 887
                      MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
paths to the root