Entry Search - 248500 609458 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '248500 609458 (Search in: MIM number)'
Results: 2 entries.

1:

2:
# 248500. MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA
Cytogenetic location: 19p13.13
Matching terms: 248500
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
19p13.13 Mannosidosis, alpha-, types I and II 248500 AR 3 MAN2B1 609458
ICD+
SNOMEDCT: 124466001, 65524005
ORPHA: 309282, 309288, 61
DO: 3413
Search: 248500 609458 (Search in: MIM number)
Results: 2 entries.

1:
* 609458. MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1
Cytogenetic location: 19p13.13, Genomic coordinates (GRCh38): 19:12,646,512-12,666,742
Matching terms: 609458

2:
# 248500. MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA
Cytogenetic location: 19p13.13
Matching terms: 248500