Entry Search - 242900 606622 - OMIM
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Search: '242900 606622 (Search in: MIM number)'
Results: 2 entries.

1:
* 606622. SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1; SMARCAL1
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:216,412,484-216,483,053
Matching terms: 606622
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2q35 Schimke immunoosseous dysplasia 242900 AR 3
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ICD+
SNOMEDCT: 723995003
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2:
# 242900. SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD
Cytogenetic location: 2q35
Matching terms: 242900
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
2q35 Schimke immunoosseous dysplasia 242900 AR 3 SMARCAL1 606622
▲ Close
ICD+
SNOMEDCT: 723995003
ORPHA: 1830
DO: 0060490
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Search: 242900 606622 (Search in: MIM number)
Results: 2 entries.

1:
* 606622. SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1; SMARCAL1
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:216,412,484-216,483,053
Matching terms: 606622

2:
# 242900. SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD
Cytogenetic location: 2q35
Matching terms: 242900


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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