Ankyloblepharon-ectodermal defects-cleft lip/palate

Preferred Label : Ankyloblepharon-ectodermal defects-cleft lip/palate;

Symbol : AEC;

CISMeF acronym : AEC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aec syndrome; Hay-wells syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the tumor protein p63 gene (TP63, 603273.0009);

Prefixed ID : #106260;

Details

Origin ID

106260;

UMLS CUI

C0406709;

Automatic exact mappings (from CISMeF team)
- Altered state of consciousness [MedDRA Preferred Term]
- caprine arthritis-encephalitis [SNOMED Notion]
Currated CISMeF NLP mapping
- AEC syndrome [MedDRA LLT]
- Ankyloblepharon - ectodermal defects - cleft lip or palate [ICD-11 More detail]
- Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate [NCIt concept]
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [ORDO Disease]
- Hay-Wells syndrome [PASCAL descriptor]
- Hay-Wells syndrome [MedDRA LLT]
- Hay-Wells syndrome [MeSH concept]
- Hay-Wells syndrome [MeSH Supplementary Concept]
- Hay-Wells syndrome of ectodermal dysplasia (disorder) [SNOMED CT concept]
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [DO Concept]
- hay-wells syndrome of ectodermal dysplasia [SNOMED Notion]
DO Cross reference
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [DO Concept]
Genes related to phenotype
- Tumor protein p63 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormality of the nervous system [HPO term]
- Absent eyelashes [HPO term]
- Anhidrosis [HPO term]
- Ankyloblepharon [HPO term]
- Anonychia [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharitis [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Conical tooth [HPO term]
- Conjunctivitis [HPO term]
- Hyperconvex nail [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypospadias [HPO term]
- Lacrimal duct atresia [HPO term]
- Micropenis [HPO term]
- Nail dystrophy [HPO term]
- Oval face [HPO term]
- Palmoplantar keratoderma [HPO term]
- Patchy alopecia [HPO term]
- Patent ductus arteriosus [HPO term]
- Selective tooth agenesis [HPO term]
- Sparse body hair [HPO term]
- Sparse eyelashes [HPO term]
- Sparse to absent eyelashes [HPO term]
- Supernumerary nipple [HPO term]
- Vaginal dryness [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AEC syndrome [MedDRA LLT]
- Ankyloblepharon - ectodermal defects - cleft lip or palate [ICD-11 More detail]
- Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate [NCIt concept]
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [MedDRA LLT]
- Hay-Wells syndrome [MeSH Supplementary Concept]
- Hay-Wells syndrome [MeSH concept]
- Hay-Wells syndrome [PASCAL descriptor]
- Hay-Wells syndrome [MedDRA LLT]
- Hay-Wells syndrome of ectodermal dysplasia (disorder) [SNOMED CT concept]
- hay-wells syndrome of ectodermal dysplasia [SNOMED Notion]

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