Entry Search - 222700 603593 - OMIM
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Search: '222700 603593 (Search in: MIM number)'
Results: 2 entries.

1:
* 603593. SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 7; SLC7A7
Cytogenetic location: 14q11.2, Genomic coordinates (GRCh38): 14:22,773,222-22,819,791
Matching terms: 603593
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q11.2 Lysinuric protein intolerance 222700 AR 3
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ICD+
SNOMEDCT: 303852004
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2:
# 222700. LYSINURIC PROTEIN INTOLERANCE; LPI
Cytogenetic location: 14q11.2
Matching terms: 222700
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
14q11.2 Lysinuric protein intolerance 222700 AR 3 SLC7A7 603593
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ICD+
SNOMEDCT: 303852004
ORPHA: 470
DO: 0060439
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Search: 222700 603593 (Search in: MIM number)
Results: 2 entries.

1:
* 603593. SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 7; SLC7A7
Cytogenetic location: 14q11.2, Genomic coordinates (GRCh38): 14:22,773,222-22,819,791
Matching terms: 603593

2:
# 222700. LYSINURIC PROTEIN INTOLERANCE; LPI
Cytogenetic location: 14q11.2
Matching terms: 222700


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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