popliteal pterygium syndrome
Information
- Disease name
- popliteal pterygium syndrome
- Disease ID
- DOID:0060055
- Description
- "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." [url:http\://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome, url:https\://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2352260, url:https\://www.ncbi.nlm.nih.gov/pubmed/4384166]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:3242
- Cross Reference ID (Disease Ontology)
- MESH:C562509
- Cross Reference ID (Disease Ontology)
- MIM:119500
- Cross Reference ID (Disease Ontology)
- MIM:263650
- Cross Reference ID (Disease Ontology)
- NCI:C118786
- Cross Reference ID (Disease Ontology)
- ORDO:1300
- Cross Reference ID (Disease Ontology)
- ORDO:294963
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205820002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265259
- Exact Synonym (Disease Ontology)
- facio-genito-popliteal syndrome
- Exact Synonym (Disease Ontology)
- popliteal web syndrome