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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:MLS syndrome
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Accession:DOID:0111875 term browser browse the term
Definition:A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. (DO)
Synonyms:exact_synonym: MLS;   linear skin defects with multiple congenital anomalies;   microphthalmia with linear skin defects;   microphthalmia with linear skin defects syndrome
 xref: OMIM:PS309801
For additional species annotation, visit the Alliance of Genome Resources.


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MLS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: MLS syndrome ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link
linear skin defects with multiple congenital anomalies 1 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 CTD NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
G Hccs holocytochrome c synthase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
ClinVar Annotator: match by OMIM:309801
OMIM
ClinVar
PMID:16059943 PMID:17033964 PMID:25741868 NCBI chr  X:24,932,943...24,942,376
Ensembl chr  X:24,933,002...24,942,366
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD
ClinVar
PMID:25741868 PMID:25772934 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link
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:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
linear skin defects with multiple congenital anomalies 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 OMIM
ClinVar
PMID:25741868 PMID:25772934 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    physical disorder 3086
      MLS syndrome 3
        linear skin defects with multiple congenital anomalies 1 3
        linear skin defects with multiple congenital anomalies 2 1
        linear skin defects with multiple congenital anomalies 3 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            Skin Abnormalities 766
              MLS syndrome 3
                linear skin defects with multiple congenital anomalies 1 3
                linear skin defects with multiple congenital anomalies 2 1
                linear skin defects with multiple congenital anomalies 3 1
paths to the root