Filippi syndrome

Preferred Label : Filippi syndrome;

Symbol : FLPIS;

CISMeF acronym : FLPIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scott craniodigital syndrome with mental retardation; Syndactyly, type I, with microcephaly and mental retardation;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytoskeleton-associated protein 2-like gene (CKAP2L, 616174.0001);

Prefixed ID : #272440;

Détails

Origin ID

272440;

UMLS CUI

C0795940;

Automatic exact mappings (from CISMeF team)
- scott bryant graham syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Filippi syndrome [ICD-11 More detail]
- Filippi syndrome [MedDRA Preferred Term]
- Filippi syndrome [DO Concept]
- Filippi syndrome [MeSH concept]
- Filippi syndrome [ORDO Disease]
- Filippi syndrome (disorder) [SNOMED CT concept]
- filippi syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Cytoskeleton-associated protein 2-like [OMIM gene]
HPO term(s)
- 2-4 toe syndactyly [HPO term]
- Abnormality of dental morphology [HPO term]
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Cerebellar atrophy [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous syndactyly [HPO term]
- Decreased body weight [HPO term]
- Dystonia [HPO term]
- Finger clinodactyly [HPO term]
- Frontal hirsutism [HPO term]
- Growth retardation, prenatal and postnatal [HPO term]
- Hypertrichosis [HPO term]
- Hypodontia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Low hanging columella [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Optic atrophy [HPO term]
- Postnatal growth retardation [HPO term]
- Proptosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Sparse hair [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
- Ventricular septal defect [HPO term]
- Visual impairment [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Filippi syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Filippi syndrome [ORDO Disease]
- Filippi syndrome [MeSH concept]
- Filippi syndrome [MedDRA Preferred Term]
- Filippi syndrome (disorder) [SNOMED CT concept]
- filippi syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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