Entry Search - 213700 606530 - OMIM
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Search: '213700 606530 (Search in: MIM number)'
Results: 2 entries.

2:
# 213700. CEREBROTENDINOUS XANTHOMATOSIS; CTX
Cytogenetic location: 2q35
Matching terms: 213700
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
2q35 Cerebrotendinous xanthomatosis 213700 AR 3 CYP27A1 606530
ICD+
SNOMEDCT: 63246000
ORPHA: 909
DO: 4810
Search: 213700 606530 (Search in: MIM number)
Results: 2 entries.

1:
* 606530. CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:218,782,147-218,815,293
Matching terms: 606530

2:
# 213700. CEREBROTENDINOUS XANTHOMATOSIS; CTX
Cytogenetic location: 2q35
Matching terms: 213700