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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:syndromic microphthalmia 1
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Accession:DOID:0111799 term browser browse the term
Definition:A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28. (DO)
Comment:type 4 obsoleted by omim, merged into type 1[LS]
Synonyms:exact_synonym: ANOP1;   ANOPHTHALMIA - MICROPHTHALMIA;   Lenz dysmorphogenic syndrome;   Lenz dysplasia;   Lenz microphthalmia;   Lenz microphthalmia syndrome;   Lenz syndrome;   Lenz type microphthalmia;   MAA;   MCOPS1;   microphthalmia or anophthalmos with associated anomalies;   microphthalmia with ankyloblepharon and mental retardation;   microphthalmia-ankyloblepharon-intellectual disability syndrome
 narrow_synonym: MCOPS4;   syndromic microphthalmia 4
 primary_id: MESH:C537464;   MESH:C564457
 alt_id: DOID:0111810;   OMIM:309800
 xref: GARD:5066;   GARD:87;   ORDO:568;   ORDO:85275
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:309800
ClinVar Annotator: match by term: Lenz microphthalmia syndrome
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4520
        intellectual disability 2163
          Mental Retardation, X-Linked 669
            syndromic microphthalmia 1 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    syndromic intellectual disability 692
                      Mental Retardation, X-Linked 669
                        syndromic microphthalmia 1 2
paths to the root