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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:linear skin defects with multiple congenital anomalies 2
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Accession:DOID:0111877 term browser browse the term
Definition:A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: APLCC;   LSDMCA2;   reticulolinear aplasia cutis congenita with microcephaly, facial dysmorphism, and other congenital anomalies
 primary_id: OMIM:300887


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linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2		 OMIM
CTD
ClinVar		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      MLS syndrome 3
        linear skin defects with multiple congenital anomalies 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Malformations of Cortical Development, Group I 1373
                    microcephaly 1124
                      linear skin defects with multiple congenital anomalies 2 1
paths to the root