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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: Popliteal pterygium syndrome
ClinVar Annotator: match by OMIM:119500
OMIM
ClinVar
PMID:12219090, PMID:14757865, PMID:18478600, PMID:18617879, PMID:19036739, PMID:20803643, PMID:22488974, PMID:25547932, PMID:25548624, PMID:25691407, PMID:28492532, PMID:29453417 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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 chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
JBrowse link
Popliteal Pterygium Syndrome, Lethal Type 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 OMIM:263650
ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by term: Bartsocas-Papas syndrome
OMIM
ClinVar
PMID:10925380, PMID:15264293, PMID:22197488, PMID:22197489, PMID:23074676, PMID:23610050, PMID:25326635, PMID:25741868, PMID:26752647, PMID:28492532, PMID:28940926 NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      popliteal pterygium syndrome 2
        Familial Popliteal Pterygium Syndrome 0
        Popliteal Pterygium Syndrome, Lethal Type 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft lip 58
                      popliteal pterygium syndrome 2
                        Familial Popliteal Pterygium Syndrome 0
                        Popliteal Pterygium Syndrome, Lethal Type 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.