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ONTOLOGY REPORT - ANNOTATIONS


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
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MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msmo1 methylsterol monooxygenase 1 JBrowse link 16 26,859,441 26,875,880 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    physical disorder 755
      congenital nervous system abnormality 311
        microcephaly 216
          MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal dominant disease 2156
                complex cortical dysplasia with other brain malformations 488
                  Malformations of Cortical Development, Group I 344
                    microcephaly 216
                      MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.