Facial dysmorphism, immunodeficiency, livedo, and short stature

Preferred Label : Facial dysmorphism, immunodeficiency, livedo, and short stature;

Symbol : FILS;

CISMeF acronym : FILS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA polymerase, epsilon gene (POLE, 174762.0002);

Prefixed ID : #615139;

Details

Origin ID

615139;

UMLS CUI

C3554576;

Automatic exact mappings (from CISMeF team)
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome [ORDO Disease]
- Fons (qualifier value) [SNOMED CT concept]
- POLE wt Allele [NCIt concept]
- Son [LOINC System]
- Son [NCIt concept]
- Son (person) [SNOMED CT concept]
- Thread (unit of presentation) [SNOMED CT concept]
- nuclear family [MeSH Descriptor]
- son, nos [SNOMED Notion]
- sons [MeSH concept]
Genes related to phenotype
- Polymerase, dna, epsilon [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone pain [HPO term]
- Broad forehead [HPO term]
- Congenital onset [HPO term]
- Immunodeficiency [HPO term]
- Malar flattening [HPO term]
- Recurrent respiratory infections [HPO term]
- Relative macrocephaly [HPO term]
- Short stature [HPO term]
- Telangiectases of the cheeks [HPO term]
ORDO concept(s)
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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