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

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Path 1
Term Annotations click to browse term
  disease 14926
    physical disorder 746
      congenital nervous system abnormality 300
        microcephaly 209
          MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Nervous System Malformations 664
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                microcephaly 209
                  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.