Frontonasal Dysplasia

Preferred Label : Frontonasal Dysplasia;

NCIt synonyms : FND1; Frontonasal Dysplasia 1;

NCIt definition : Frontonasal dysplasia caused by mutations in the ALX3 gene, encoding homeobox protein aristaless-like 3. It is inherited in an autosomal recessive fashion.;

Details

Origin ID

C129028;

UMLS CUI

C5574965;

Currated CISMeF NLP mapping
- Frontonasal dysplasia [MeSH concept]
- Frontonasal dysplasia [ORDO Disease]
- Frontonasal dysplasia [ICD-11 More detail]
- Frontonasal dysplasia 1 [OMIM Phenotype]
- Frontorhiny [ORDO Disease]
- Frontorhiny (disorder) [SNOMED CT concept]
- Midline facial cleft - Tessier cleft 0 (disorder) [SNOMED CT concept]
- Tessier number 0 facial cleft [HPO term]
- frontonasal dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Frontonasal dysplasia [ORDO Disease]
- Frontonasal dysplasia [MeSH concept]
- Frontonasal dysplasia 1 [OMIM Phenotype]
- Frontorhiny (disorder) [SNOMED CT concept]
- frontonasal dysplasia [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ALX3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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