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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:Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
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Accession:DOID:9009244 term browser browse the term
Definition:An autosomal dominant syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients.
Synonyms:exact_synonym: MFRG
 primary_id: OMIM:618142

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Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar		 PMID:25081361 PMID:25741868 PMID:25741916 PMID:26633546 PMID:27480277 More... NCBI chrNW_004936641:980,493...986,015
Ensembl chrNW_004936641:980,533...984,506 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital nervous system abnormality 1447
        microcephaly 1105
          Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group I 1335
                    microcephaly 1105
                      Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
paths to the root