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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 COX7B 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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar
PMID:9747372, PMID:23122588, PMID:25741868 NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      MLS syndrome 3
        linear skin defects with multiple congenital anomalies 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      linear skin defects with multiple congenital anomalies 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.