Entry Search - 250100 607574 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '250100 607574 (Search in: MIM number)'
Results: 2 entries.

1:
* 607574. ARYLSULFATASE A; ARSA
Cytogenetic location: 22q13.33, Genomic coordinates (GRCh38): 22:50,622,754-50,628,152
Matching terms: 607574
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
22q13.33 Metachromatic leukodystrophy 250100 AR 3
ICD+
SNOMEDCT: 24326000, 396338004, 40802007, 44359008, 47683004
ICD10CM: E75.25, E75.29

2:
# 250100. METACHROMATIC LEUKODYSTROPHY; MLD
PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED
Cytogenetic location: 22q13.33
Matching terms: 250100
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
22q13.33 Metachromatic leukodystrophy 250100 AR 3 ARSA 607574
ICD+
SNOMEDCT: 238031009, 396338004, 44359008, 66521008
ICD10CM: E75.25, E75.29
ORPHA: 309256, 309263, 309271, 512
DO: 10581
Search: 250100 607574 (Search in: MIM number)
Results: 2 entries.

1:
* 607574. ARYLSULFATASE A; ARSA
Cytogenetic location: 22q13.33, Genomic coordinates (GRCh38): 22:50,622,754-50,628,152
Matching terms: 607574

2:
# 250100. METACHROMATIC LEUKODYSTROPHY; MLD
PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED
Cytogenetic location: 22q13.33
Matching terms: 250100