Even-plus syndrome

Preferred Label : Even-plus syndrome;

Symbol : EVPLS;

CISMeF acronym : EVPLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the heat-shock 70-kd protein-9 gene (HSPA9, 600548.0003);

Prefixed ID : #616854;

Détails

Origin ID

616854;

UMLS CUI

C4225180;

Currated CISMeF NLP mapping
- EVEN-plus syndrome [ORDO Disease]
- Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Heat-shock 70-kd protein 9 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Aplasia cutis congenita [HPO term]
- Atopic dermatitis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Brachycephaly [HPO term]
- Coronal cleft vertebrae [HPO term]
- Depressed nasal ridge [HPO term]
- Dysplasia of the femoral head [HPO term]
- Dysplastic corpus callosum [HPO term]
- Epiphyseal dysplasia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypodontia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Oligohydramnios [HPO term]
- Patent foramen ovale [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal hypoplasia [HPO term]
- Severe short stature [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Sparse hair [HPO term]
- Synophrys [HPO term]
- Vertebral clefting [HPO term]
- Vesicoureteral reflux [HPO term]
Not associated HPO term(s)
- Cataract [HPO term]
ORDO concept(s)
- EVEN-plus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EVEN-plus syndrome [ORDO Disease]
- Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) [SNOMED CT concept]

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