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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 OMIM NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12691
    physical disorder 2873
      congenital nervous system abnormality 996
        microcephaly 873
          MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
Path 2
Term Annotations click to browse term
  disease 12691
    Developmental Disease 9631
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8379
        genetic disease 7954
          monogenic disease 6460
            autosomal genetic disease 5761
              autosomal dominant disease 4090
                complex cortical dysplasia with other brain malformations 1148
                  Malformations of Cortical Development, Group I 1022
                    microcephaly 873
                      MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
paths to the root