Vici syndrome
autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation, with material basis in mutation in the EPG5 gene on chromosome 18q12.3.
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Vici syndrome
Summary
Vici syndrome is a developmental defect during embryogenesis[1]. It is known by 13 alternative names across languages and contexts.[2]
Key Facts
- Vici syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Vici syndrome's instance of is recorded as rare disease[4].
- Vici syndrome's instance of is recorded as class of disease[5].
- Vici syndrome is a type of autosomal recessive disease[6].
- Vici syndrome is a type of leukoderma[7].
- Vici syndrome is a type of syndrome with combined immunodeficiency[8].
- Vici syndrome is a type of genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature[9].
- Vici syndrome is a type of syndrome associated with dilated cardiomyopathy[10].
- Vici syndrome is a type of syndromic cataract[11].
- Vici syndrome is a type of multiple congenital anomalies/dysmorphic syndrome without intellectual disability[12].
- Vici syndrome is a type of syndrome[13].
- Vici syndrome's NCI Thesaurus ID is recorded as C138174[14].
- Vici syndrome's genetic association is recorded as EPG5[15].
- Vici syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060356[16].
- Vici syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060356[17].
- Vici syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1493[18].
- Vici syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
Why It Matters
Vici syndrome is known by 13 alternative names across languages and contexts.[2]