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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:popliteal pterygium syndrome
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Accession:DOID:0060055 term browser browse the term
Definition:A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. (DO)
Synonyms:exact_synonym: PPS;   cleft lip-palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies;   facio-genito-popliteal syndrome;   faciogenitopopliteal syndrome;   popliteal web syndrome
 primary_id: MESH:C562509
 alt_id: OMIM:119500
 xref: GARD:3242;   NCI:C118786;   ORDO:1300;   ORDO:294963
For additional species annotation, visit the Alliance of Genome Resources.



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popliteal pterygium syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar
PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
ISS
ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
ClinVar
MouseDO
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE OMIM
ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar
PMID:25691407 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      chromosomal duplication syndrome 1021
        syndactyly 61
          popliteal pterygium syndrome 3
            Bartsocas-Papas Syndrome 1 1
            Bartsocas-Papas Syndrome 2 1
            Familial Popliteal Pterygium Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Musculoskeletal Abnormalities 2678
            Craniofacial Abnormalities 2309
              Maxillofacial Abnormalities 280
                Jaw Abnormalities 233
                  orofacial cleft 135
                    cleft palate 103
                      popliteal pterygium syndrome 3
                        Bartsocas-Papas Syndrome 1 1
                        Bartsocas-Papas Syndrome 2 1
                        Familial Popliteal Pterygium Syndrome 0
paths to the root