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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 9
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Accession:DOID:0111807 term browser browse the term
Definition:A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in STRA6 on chromosome 15q24.1. (DO)
Synonyms:exact_synonym: Anophthalmia with Pulmonary Hypoplasia;   ISOLATED ANOPHTHALMIA-MICROPHTHALMIA SYNDROME;   MCOPS9;   Matthew-Wood syndrome;   Spear Syndrome;   anophthalmia-pulmonary hypoplasia syndrome;   anophthalmia/microphthalmia and pulmonary hypoplasia;   clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations;   clinical anophthalmia with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm;   pulmonary agenesis microphthalmi and diaphragmatic defect;   syndromic microphthalmia type 9
 narrow_synonym: MCOPCB8;   PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8;   PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT
 primary_id: MESH:C537768
 alt_id: DOID:0050819;   OMIM:601186
 xref: ORDO:2470
For additional species annotation, visit the Alliance of Genome Resources.


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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 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect
ClinVar
OMIM
CTD
PMID:11857549, PMID:17273977, PMID:17503335, PMID:18316031, PMID:19213032, PMID:19309693, PMID:19839040, PMID:22686418, PMID:25741868, PMID:26373900, PMID:28492532 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 16108
    disease of anatomical entity 15356
      respiratory system disease 2733
        lung disease 1626
          syndromic microphthalmia 9 3
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            Eye Abnormalities 363
              microphthalmia 98
                syndromic microphthalmia 20
                  syndromic microphthalmia 9 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.