Disease
Popliteal pterygium syndrome
[ DI0003447 ]
- Summary
- Popliteal Pterygium Syndrome, also known as pps, is related to bartsocas-papas syndrome and syngnathia. An important gene associated with Popliteal Pterygium Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Hypothetical Craniofacial Development Pathway. Affiliated tissues include skin, uterus and testes, and relatedphenotypes are joint stiffness and cleft palate
- Synonym
- Autosomal dominant popliteal pterygium syndrome Autosomal dominant popliteal pterygium syndrome (disorder) CLEFT LIP/PALATE, PARAMEDIAN MUCOUS C Cleft Lip-Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies
- Xref
- DO: DOID:0060055 MSH: C562509 MTH: NOCODE NCI: C118786 OMIM: 119500 OMIM: 607199 RCD: PGyy3 RCD: PKy79 SNM: D-5140 SNMI: D4-00901 SNOMEDCT_US: 205531003 SNOMEDCT_US: 205820002 SNOMEDCT_US: 66783006 SNOMEDCT_US: 718222000
Classification
| PMappKB GV ID | Genomic Location | Alt | ProAlt | Gene symbol | Relation |
|---|
| Drug Name | Synonyms | Formular | PubChem_CID | ATC code | Drug Type | Drug Status | Relation |
|---|