Spondylometaphyseal dysplasia with corneal dystrophy

Preferred Label : Spondylometaphyseal dysplasia with corneal dystrophy;

Symbol : SMDCD;

CISMeF acronym : SMDCD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase C, beta-3 gene (PLCB3, 600230.0001);

Prefixed ID : #618961;

Details

Origin ID

618961;

UMLS CUI

C5394555;

Currated CISMeF NLP mapping
- Spondylometaphyseal , corneal dystrophy syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Phospholipase C, beta-3 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Brachydactyly [HPO term]
- Coarse metaphyseal trabecularization [HPO term]
- Corneal opacity [HPO term]
- Death in childhood [HPO term]
- Depressed nasal bridge [HPO term]
- Hypertelorism [HPO term]
- Increased intervertebral space [HPO term]
- Limb undergrowth [HPO term]
- Lumbar platyspondyly [HPO term]
- Metaphyseal widening [HPO term]
- Narrow chest [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal respiratory distress [HPO term]
- Patent ductus arteriosus [HPO term]
- Proptosis [HPO term]
- Severe global developmental delay [HPO term]
- Short long bone [HPO term]
- Short nose [HPO term]
- Short ribs [HPO term]
- Squared iliac bones [HPO term]
- Thoracic platyspondyly [HPO term]
ORDO concept(s)
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal , corneal dystrophy syndrome (disorder) [SNOMED CT concept]

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