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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: CTU2-RELATED CONDITION;   MFRG
 primary_id: MIM:618142



show annotations for term's descendants           Sort by:
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: CTU2-related condition | ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar
PMID:25081361 PMID:25741868 PMID:26633546 PMID:27480277 PMID:28492532 More... NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    physical disorder 5192
      congenital nervous system abnormality 1536
        microcephaly 1146
          Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal dominant disease 6779
                complex cortical dysplasia with other brain malformations 1641
                  Malformations of Cortical Development, Group I 1399
                    microcephaly 1146
                      Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
paths to the root