Entry Search - 182125 612716 - OMIM
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Search: '182125 612716 (Search in: MIM number)'
Results: 2 entries.

1:
* 182125. SEPIAPTERIN REDUCTASE; SPR
Cytogenetic location: 2p13.2, Genomic coordinates (GRCh38): 2:72,887,408-72,892,158
Matching terms: 182125
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2p13.2 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 ?AD, AR 3
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ICD+
SNOMEDCT: 1187545003
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2:
# 612716. DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Cytogenetic location: 2p13.2
Matching terms: 612716
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
2p13.2 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 ?AD, AR 3 SPR 182125
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ICD+
SNOMEDCT: 1187545003
ORPHA: 70594
DO: 0111168
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Search: 182125 612716 (Search in: MIM number)
Results: 2 entries.

1:
* 182125. SEPIAPTERIN REDUCTASE; SPR
Cytogenetic location: 2p13.2, Genomic coordinates (GRCh38): 2:72,887,408-72,892,158
Matching terms: 182125

2:
# 612716. DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Cytogenetic location: 2p13.2
Matching terms: 612716


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025