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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 1
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Accession:DOID:0111808 term browser browse the term
Definition:A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in HCCS on chromosome Xp22.2. (DO)
Synonyms:exact_synonym: LSDMCA1;   MCOPS7;   Midas syndrome;   microphthalmia with linear skin lesions syndrome;   microphthalmia, dermal aplasia, and sclerocornea;   microphthalmia-dermal aplasia-sclerocornea syndrome;   syndromic microphthalmia 7;   syndromic microphthalmia type 7
 primary_id: MESH:C537466
 alt_id: OMIM:309801
For additional species annotation, visit the Alliance of Genome Resources.


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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:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
G Hccs holocytochrome c synthase ISO ClinVar Annotator: match by OMIM:309801
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
OMIM
ClinVar
PMID:16059943, PMID:17033964, PMID:25741868 NCBI chr  X:26,294,028...26,303,461
Ensembl chr  X:26,294,066...26,303,461
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:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
JBrowse link

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 1 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Eye Abnormalities 365
              microphthalmia 98
                syndromic microphthalmia 20
                  linear skin defects with multiple congenital anomalies 1 3
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.