complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBB3 gene on chromosome 16q24.3
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complex cortical dysplasia with other brain malformations 1
Summary
complex cortical dysplasia with other brain malformations 1 is a rare disease[1].
Key Facts
- complex cortical dysplasia with other brain malformations 1's instance of is recorded as rare disease[2].
- complex cortical dysplasia with other brain malformations 1's instance of is recorded as class of disease[3].
- complex cortical dysplasia with other brain malformations 1's subclass of is recorded as complex cortical dysplasia with other brain malformations[4].
- complex cortical dysplasia with other brain malformations 1's subclass of is recorded as genetic disease[5].
- complex cortical dysplasia with other brain malformations 1's OMIM ID is recorded as 614039[6].
- complex cortical dysplasia with other brain malformations 1's Disease Ontology ID is recorded as DOID:0090137[7].
- complex cortical dysplasia with other brain malformations 1's Orphanet ID is recorded as 300570[8].
- complex cortical dysplasia with other brain malformations 1's health specialty is recorded as medical genetics[9].
- complex cortical dysplasia with other brain malformations 1's genetic association is recorded as TUBB3[10].
- complex cortical dysplasia with other brain malformations 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090137[11].
- complex cortical dysplasia with other brain malformations 1's exact match is recorded as http://identifiers.org/doid/DOID:0090137[12].
- complex cortical dysplasia with other brain malformations 1's UMLS CUI is recorded as C3808397[13].
- complex cortical dysplasia with other brain malformations 1's ICD-10-CM is recorded as Q04.3[14].
- complex cortical dysplasia with other brain malformations 1's GARD rare disease ID is recorded as 13032[15].
- complex cortical dysplasia with other brain malformations 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- complex cortical dysplasia with other brain malformations 1's Mondo ID is recorded as MONDO_0013541[17].
- complex cortical dysplasia with other brain malformations 1's UniProt disease ID is recorded as DI-03150[18].