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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


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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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ochoa syndrome
OMIM:236730 | OMIM:615112		 CTD
ClinVar
MouseDO		 PMID:16199547 PMID:20560209 PMID:20560210 PMID:25145936 PMID:25510506 More... NCBI chr 1:241,582,904...242,284,348
Ensembl chr 1:241,583,187...242,246,118 		JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579 		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: HPSE2-related condition | ClinVar Annotator: match by term: Urofacial syndrome type 1 OMIM
ClinVar		 PMID:11446407 PMID:16199547 PMID:19669792 PMID:19839856 PMID:20560209 More... NCBI chr 1:241,582,904...242,284,348
Ensembl chr 1:241,583,187...242,246,118 		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 OMIM
ClinVar		 PMID:23313374 PMID:25741868 NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      urofacial syndrome 2
        Urofacial Syndrome 1 1
        Urofacial Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                urofacial syndrome 2
                  Urofacial Syndrome 1 1
                  Urofacial Syndrome 2 1
paths to the root