Cleft, median, of upper lip with polyps of facial skin and nasal mucosa

Preferred Label : Cleft, median, of upper lip with polyps of facial skin and nasal mucosa;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pai syndrome;

Description : Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development (Guion-Almeida et al., 2007).;

Inheritance : Autosomal dominant;

Prefixed ID : %155145;

Details

Origin ID

155145;

UMLS CUI

C1835087;

Currated CISMeF NLP mapping
- Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) [SNOMED CT concept]
- Pai syndrome [ICD-11 More detail]
- Pai syndrome [ORDO Disease]
- median cleft lip, corpus callosum, lipoma, and skin polyps [MeSH concept]
- median cleft lip, corpus callosum, lipoma, and skin polyps [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Broad forehead [HPO term]
- Downslanted palpebral fissures [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Iris coloboma [HPO term]
- Median cleft lip [HPO term]
- Midline central nervous system lipomas [HPO term]
- Nasal polyposis [HPO term]
- Nasal polyps [HPO term]
- Skin tags [HPO term]
ORDO concept(s)
- Pai syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) [SNOMED CT concept]
- Pai syndrome [ORDO Disease]
- median cleft lip, corpus callosum, lipoma, and skin polyps [MeSH Supplementary Concept]
- median cleft lip, corpus callosum, lipoma, and skin polyps [MeSH concept]

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