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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 the HCCS gene on chromosome Xp22.2. (DO)
Synonyms:exact_synonym: LSDMCA1;   MCOPS7;   Microphthalmia with linear skin defect syndrome;   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


show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16059943 PMID:17033964 PMID:17893649 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      MLS syndrome 3
        linear skin defects with multiple congenital anomalies 1 3
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Eye Abnormalities 778
                microphthalmia 214
                  syndromic microphthalmia 76
                    linear skin defects with multiple congenital anomalies 1 3
paths to the root