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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: HCCS-RELATED CONDITION;   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: MIM:309801


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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 Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: HCCS-related condition ClinVar PMID:18414213 PMID:28492532 NCBI chr  X:24,953,464...25,490,003 JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:71,083,486...71,089,733 JBrowse link
G Hccs holocytochrome c synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HCCS-related condition | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1		 OMIM
CTD
ClinVar		 PMID:16059943 PMID:17033964 PMID:17893649 PMID:18414213 PMID:23596069 More... NCBI chr  X:24,932,943...24,942,376 JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:25772934 NCBI chr  X:1,572,805...1,575,063 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      MLS syndrome 4
        linear skin defects with multiple congenital anomalies 1 4
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            eye disease 3722
              Eye Abnormalities 814
                microphthalmia 229
                  syndromic microphthalmia 91
                    linear skin defects with multiple congenital anomalies 1 4
paths to the root