Focal facial dermal dysplasia 4

Preferred Label : Focal facial dermal dysplasia 4;

Symbol : FFDD4;

CISMeF acronym : FFDD4;

Type : Phenotype, molecular basis known;

Description : The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD4 is characterized by isolated, preauricular skin lesions (summary by Slavotinek et al., 2013). For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450, subfamily XXVIC, polypeptide 1 gene (CYP26C1, 608428.0001);

Prefixed ID : #614974;

Details

Origin ID

614974;

UMLS CUI

C3554246;

Currated CISMeF NLP mapping
- Focal Facial Dermal Dysplasia 4 [MeSH concept]
- Focal facial dermal dysplasia type IV [ORDO Disease]
Genes related to phenotype
- Cytochrome p450, subfamily xxvic, polypeptide 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bitemporal forceps marks [HPO term]
ORDO concept(s)
- Focal facial dermal dysplasia [ORDO Disease]
- Focal facial dermal dysplasia type IV [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Focal facial dermal dysplasia type IV (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Focal facial dermal dysplasia [ORDO Disease]

Keyword's position in hierarchy(ies) :

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