loading...| Preferred Name |
Isolated Dandy-Walker malformation |
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| Synonyms |
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| Definitions |
A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_217 |
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| definition |
A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 |
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| has_age_of_onset |
Antenatal Neonatal |
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| has_inheritance |
Multigenic/multifactorial |
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| hasDbXref |
ICD-11:LA06.0 OMIM:220200 ICD-10:Q03.1 UMLS:C5680466 |
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| label |
Isolated Dandy-Walker malformation |
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| notation |
ORPHA:217 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_217 |
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| prefLabel |
Isolated Dandy-Walker malformation |
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| present_in |
Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_217 | EFO | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_456 | HRDO | LOOM | |
| http://www.gamuts.net/entity#Dandy_Walker_malformation | GAMUTS | REST |