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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;   COX7B-RELATED CONDITION;   LSDMCA2;   reticulolinear aplasia cutis congenita with microcephaly, facial dysmorphism, and other congenital anomalies
 primary_id: MIM: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 ClinVar Annotator: match by term: COX7B-related condition | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar
PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:71,083,456...71,089,732
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    physical disorder 5192
      MLS syndrome 4
        linear skin defects with multiple congenital anomalies 2 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal dominant disease 6779
                complex cortical dysplasia with other brain malformations 1641
                  Malformations of Cortical Development, Group I 1399
                    microcephaly 1146
                      linear skin defects with multiple congenital anomalies 2 1
paths to the root