Popliteal pterygium syndrome

Preferred Label : Popliteal pterygium syndrome;

Symbol : PPS;

CISMeF acronym : PPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Faciogenitopopliteal syndrome; Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon regulatory factor 6 gene (IRF6, 607199.0003);

Prefixed ID : #119500;

Details

Origin ID

119500;

UMLS CUI

C5848052;

Automatic exact mappings (from CISMeF team)
- Aggregated lymphoid follicle of small intestine [FMA entity]
- IRF6 wt Allele [NCIt concept]
- Pancreatic peptide (substance) [SNOMED CT concept]
- Pancreatic polypeptide [LOINC component]
- Popliteal pterygium syndrome [ICD-11 More detail]
- Popliteal pterygium syndrome [MedDRA Preferred Term]
- Set of aggregated lymphoid nodules [FMA entity]
- Set of aggregated lymphoid nodules of small intestine [FMA entity]
- Uridine diphosphate (substance) [SNOMED CT concept]
- aggregated lymphoid follicle of small intestine [SNOMED Notion]
- peyer's patches [MeSH Descriptor]
- peyer's patches [MeSH concept]
- polio and post-polio syndrome [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Autosomal Dominant Popliteal Pterygium Syndrome [NCIt concept]
- Autosomal dominant popliteal pterygium syndrome [ORDO Disease]
- Autosomal dominant popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Popliteal pterygium syndrome [PASCAL descriptor]
- Popliteal pterygium syndrome [ORDO Disease]
- Popliteal pterygium syndrome [ACR pathology]
- Popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- popliteal pterygium syndrome [DO Concept]
- popliteal pterygium syndrome [SNOMED Notion]
- popliteal pterygium syndrome [MeSH concept]
- popliteal pterygium syndrome [MeSH Supplementary Concept]
DO Cross reference
- popliteal pterygium syndrome [DO Concept]
False automatic mappings
- Pentosan Polysulphate Sodium [MeSH concept]
- sunscreening agents [MeSH Descriptor]
Genes related to phenotype
- Interferon regulatory factor 6 [OMIM gene]
HPO term(s)
- Ankyloblepharon [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Dementia [HPO term]
- Fibrous syngnathia [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypoplasia of the vagina [HPO term]
- Hypoplastic labia majora [HPO term]
- Intercrural pterygium [HPO term]
- Lower lip pit [HPO term]
- Popliteal pterygium [HPO term]
- Pyramidal skinfold extending from the base to the top of the nails [HPO term]
- Small scrotum [HPO term]
- Spina bifida occulta [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Autosomal dominant popliteal pterygium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Dominant Popliteal Pterygium Syndrome [NCIt concept]
- Autosomal dominant popliteal pterygium syndrome [ORDO Disease]
- Autosomal dominant popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Popliteal pterygium syndrome [ACR pathology]
- Popliteal pterygium syndrome [ORDO Disease]
- Popliteal pterygium syndrome [PASCAL descriptor]
- Popliteal pterygium syndrome [MedDRA Preferred Term]
- Popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- popliteal pterygium syndrome [MeSH Supplementary Concept]
- popliteal pterygium syndrome [SNOMED Notion]
- popliteal pterygium syndrome [MeSH concept]
- popliteal pterygium syndrome [DO Concept]

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