Spondyloocular syndrome

Preferred Label : Spondyloocular syndrome;

Symbol : SOS;

CISMeF acronym : SOS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the xylosyltransferase-2 gene (XYLT2, 608125.0002);

Prefixed ID : #605822;

Details

Origin ID

605822;

UMLS CUI

C4225412;

Automatic exact mappings (from CISMeF team)
- hepatic veno-occlusive disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Spondylo-ocular syndrome [ICD-11 More detail]
- Spondylo-ocular syndrome [ORDO Disease]
- Spondyloocular syndrome (disorder) [SNOMED CT concept]
- spondyloocular syndrome, autosomal recessive [MeSH concept]
- spondyloocular syndrome, autosomal recessive [MeSH Supplementary Concept]
Genes related to phenotype
- Xylosyltransferase 2 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Decreased body weight [HPO term]
- Long fingers [HPO term]
- Long toe [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Mitral valve prolapse [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Osteopenia [HPO term]
- Pes planus [HPO term]
- Posteriorly rotated ears [HPO term]
- Retinal detachment [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shield chest [HPO term]
- Short stature [HPO term]
- Unilateral cryptorchidism [HPO term]
- Vertebral compression fracture [HPO term]
- Webbed neck [HPO term]
Not associated HPO term(s)
- Abnormal sclera morphology [HPO term]
- Abnormality of the dentition [HPO term]
ORDO concept(s)
- Spondylo-ocular syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloocular syndrome (disorder) [SNOMED CT concept]

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