Traboulsi syndrome

Preferred Label : Traboulsi syndrome;

CISMeF acronym : FDLAB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism; FDLAB; Shawaf-traboulsi syndrome; Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aspartate beta-hydroxylase gene (ASPH, 600582.0001);

Prefixed ID : #601552;

Détails

Origin ID

601552;

UMLS CUI

C1832167;

Automatic exact mappings (from CISMeF team)
- ASPH wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) [SNOMED CT concept]
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [ORDO Disease]
- ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism [MeSH concept]
- ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism [MeSH Supplementary Concept]
Genes related to phenotype
- Aspartate beta-hydroxylase [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Convex nasal ridge [HPO term]
- Craniofacial dysmorphism [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Ectopia lentis [HPO term]
- Iris atrophy [HPO term]
- Large beaked nose [HPO term]
- Low intraocular pressure [HPO term]
- Microphthalmia [HPO term]
- Prominent nose [HPO term]
- Retrognathia [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) [SNOMED CT concept]
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [ORDO Disease]
- ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism [MeSH Supplementary Concept]
- ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism [MeSH concept]

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