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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:Anophthalmia
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Accession:DOID:9002049 term browser browse the term
Definition:Congenital absence of the eye or eyes.
Synonyms:exact_synonym: anophthalmias;   anophthalmos
 primary_id: MESH:D000853
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Anophthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar PMID:29178648 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
Ensembl chr15:25,502,019...25,505,691 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chr18:61,638,352...61,642,056
Ensembl chr18:61,638,352...61,642,056 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO DNA:nonsense mutations: :multiple
CTD Direct Evidence: marker/mechanism		 CTD PMID:21532573, PMID:12612584 RGD:1599088 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437 		JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO DNA:missense mutation:exon:254C>T (p.P85L) (human)
ClinVar Annotator: match by term: Lenz microphthalmia syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:28492532, PMID:15004558 RGD:1600504 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Lenz microphthalmia syndrome
ClinVar Annotator: match by OMIM:309800		 OMIM
ClinVar		 PMID:1679229 PMID:11426460 PMID:16114045 PMID:24431331 PMID:25741868 PMID:30842225 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950 		JBrowse link
syndromic microphthalmia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28590501 NCBI chr 1:127,302,920...127,337,828
Ensembl chr 1:127,301,128...127,337,882 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Microphthalmia syndromic 9
ClinVar Annotator: match by term: Matthew-Wood syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:11857549 PMID:17273977 PMID:17503335 PMID:17576681 PMID:18316031 PMID:19213032 PMID:19309693 PMID:19839040 PMID:22686418 PMID:25741868 PMID:26373900 PMID:28492532 PMID:30639323 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Microphthalmia syndromic 9 ClinVar PMID:25741868 NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        Eye Abnormalities 357
          Anophthalmia 10
            Anophthalmia Plus Syndrome 0
            Arroyo Garcia Cimadevilla Syndrome 0
            Cerebrooculonasal Syndrome 0
            Leichtman Wood Rohn Syndrome 0
            Samson Viljoen Syndrome 0
            Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
            syndromic microphthalmia 1 2
            syndromic microphthalmia 9 3
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            Eye Abnormalities 357
              Anophthalmia 10
                Anophthalmia Plus Syndrome 0
                Arroyo Garcia Cimadevilla Syndrome 0
                Cerebrooculonasal Syndrome 0
                Leichtman Wood Rohn Syndrome 0
                Samson Viljoen Syndrome 0
                Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
                syndromic microphthalmia 1 2
                syndromic microphthalmia 9 3
paths to the root