Entry Search - 252600 607840 - OMIM
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Search: '252600 607840 (Search in: MIM number)'
Results: 2 entries.

1:

2:
# 252600. MUCOLIPIDOSIS III ALPHA/BETA
MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
Cytogenetic location: 12q23.2
Matching terms: 252600
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
12q23.2 Mucolipidosis III alpha/beta 252600 AR 3 GNPTAB 607840
ICD+
SNOMEDCT: 65764006
ORPHA: 423461, 577
DO: 0080071
Search: 252600 607840 (Search in: MIM number)
Results: 2 entries.

1:
* 607840. N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Cytogenetic location: 12q23.2, Genomic coordinates (GRCh38): 12:101,745,499-101,830,959
Matching terms: 607840

2:
# 252600. MUCOLIPIDOSIS III ALPHA/BETA
MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
Cytogenetic location: 12q23.2
Matching terms: 252600