Dandy-walker malformation with postaxial polydactyly

Preferred Label : Dandy-walker malformation with postaxial polydactyly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Dwm with postaxial polydactyly; Pierquin syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 220220;

Détails

Origin ID

220220;

UMLS CUI

C1857351;

Currated CISMeF NLP mapping
- Dandy Walker malformation postaxial polydactyly [MeSH concept]
- Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) [SNOMED CT concept]
- Dandy-Walker malformation-postaxial polydactyly syndrome [ORDO Disease]
- dandy walker malformation postaxial polydactyly [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chorioretinal atrophy [HPO term]
- Cranial nerve paralysis [HPO term]
- Dandy-Walker malformation [HPO term]
- Depressed nasal bridge [HPO term]
- Dilated fourth ventricle [HPO term]
- Dolichocephaly [HPO term]
- Elevated imprint of the transverse sinuses [HPO term]
- Frontal bossing [HPO term]
- Hydrocephalus [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microretrognathia [HPO term]
- Narrow palpebral fissure [HPO term]
- Nystagmus [HPO term]
- Partial absence of cerebellar vermis [HPO term]
- Patent ductus arteriosus [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posterior embryotoxon [HPO term]
- Posterior fossa cyst at the fourth ventricle [HPO term]
- Thinning and bulging of the posterior fossa bones [HPO term]
- Truncal ataxia [HPO term]
- Vascular dilatation [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Dandy-Walker malformation-postaxial polydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dandy Walker malformation postaxial polydactyly [MeSH concept]
- Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) [SNOMED CT concept]
- Dandy-Walker malformation-postaxial polydactyly syndrome [ORDO Disease]
- dandy walker malformation postaxial polydactyly [MeSH Supplementary Concept]

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