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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:urofacial syndrome
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Accession:DOID:0050816 term browser browse the term
Definition:A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO)
Synonyms:exact_synonym: Inverted smile and occult neuropathic bladder;   Ochoa syndrome;   UFS;   hydronephrosis with peculiar facial expression;   hydronephrosis-inverted smile;   inverted smile-neurogenic bladder;   partial facial palsy with urinary abnormalities;   urofacial Ochoa's syndrome
 primary_id: MESH:C536480
 xref: GARD:2781;   OMIM:PS236730;   ORDO:2704
For additional species annotation, visit the Alliance of Genome Resources.


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urofacial syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpse2 heparanase 2 (inactive) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20560209 NCBI chr 1:262,020,903...263,138,299 JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:206,928,708...206,997,915
Ensembl chr 2:206,931,204...206,997,519
JBrowse link
Urofacial Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpse2 heparanase 2 (inactive) ISO ClinVar Annotator: match by term: Urofacial syndrome 1 OMIM
ClinVar
PMID:11446407, PMID:19669792, PMID:19839856, PMID:20560209, PMID:20560210, PMID:21332471, PMID:25741868, PMID:28492532 NCBI chr 1:262,020,903...263,138,299 JBrowse link
Urofacial Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Urofacial syndrome 2
ClinVar Annotator: match by OMIM:615112
OMIM
ClinVar
PMID:23313374, PMID:25741868 NCBI chr 2:206,928,708...206,997,915
Ensembl chr 2:206,931,204...206,997,519
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      urofacial syndrome 2
        Urofacial Syndrome 1 1
        Urofacial Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                urofacial syndrome 2
                  Urofacial Syndrome 1 1
                  Urofacial Syndrome 2 1
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.