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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 the STRA6 gene 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


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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 PMID:28590501 NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect		 CTD
OMIM
ClinVar
RGD		 PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:18316031 More... RGD:155631273 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Matthew-Wood syndrome ClinVar PMID:25741868 PMID:35790350 NCBI chr 7:116,634,817...116,679,459
Ensembl chr 7:116,634,814...116,679,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        Eye Abnormalities 778
          Anophthalmia 14
            syndromic microphthalmia 9 5
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
                    syndromic microphthalmia 9 5
paths to the root