Entry Search - 300000 300552 - OMIM
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Search: '300000 300552 (Search in: MIM number)'
Results: 2 entries.

1:
* 300552. MIDLINE 1; MID1
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:10,445,310-10,833,683
Matching terms: 300552
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp22.2 Opitz GBBB syndrome 300000 XLR 3
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ICD+
SNOMEDCT: 81771002
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2:
# 300000. OPITZ GBBB SYNDROME; GBBB
Cytogenetic location: Xp22.2
Matching terms: 300000
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xp22.2 Opitz GBBB syndrome 300000 XLR 3 MID1 300552
▲ Close
ICD+
SNOMEDCT: 81771002
ORPHA: 2745
DO: 0080697
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Search: 300000 300552 (Search in: MIM number)
Results: 2 entries.

1:
* 300552. MIDLINE 1; MID1
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:10,445,310-10,833,683
Matching terms: 300552

2:
# 300000. OPITZ GBBB SYNDROME; GBBB
Cytogenetic location: Xp22.2
Matching terms: 300000


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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