Entry Search - 105650 180468 180472 300945 300946 305371 602412 603474 603632 603633 603634 603658 603674 603685 603701 603702 603704 604174 604175 604179 606129 606164 607526 610629 612527 612528 612561 612562 612563 613308 613309 614900 615550 615909 618310 618312 618313 618315 - OMIM
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Search: '105650 180468 180472 300945 300946 305371 602412 603474 603632 603633 603634 603658 603674 603685 603701 603702 603704 604174 604175 604179 606129 606164 607526 610629 612527 612528 612561 612562 612563 613308 613309 614900 615550 615909 618310 618312 618313 618315 (Search in: MIM number)'
Results: 38 entries.
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1:
# 105650. DIAMOND-BLACKFAN ANEMIA 1; DBA1
Cytogenetic location: 19q13.2
Matching terms: 105650
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
19q13.2 Diamond-Blackfan anemia 1 105650 AD 3 RPS19 603474
▲ Close
ICD+
ORPHA: 124
DO: 0111895
▲ Close

2:
% 606129. DIAMOND-BLACKFAN ANEMIA 2; DBA2
Cytogenetic location: 8p23.3-p22, Genomic coordinates (GRCh38): 8:1-19,200,000
Matching terms: 606129
► Gene-Phenotype Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
8p23.3-p22 Diamond-Blackfan anemia 2 606129 2
▲ Close
ICD+
ORPHA: 124
DO: 0111885
▲ Close

3:
# 606164. DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
Cytogenetic location: 19p13.2
Matching terms: 606164
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
19p13.2 Diamond Blackfan anemia 15 with mandibulofacial dysostosis 606164 AD 3 RPS28 603685
▲ Close
ICD+
ORPHA: 124
DO: 0111894
▲ Close

4:
* 300945. TSR2 RIBOSOME MATURATION FACTOR; TSR2
Cytogenetic location: Xp11.22, Genomic coordinates (GRCh38): X:54,440,404-54,448,032
Matching terms: 300945
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp11.22 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 300946 XLR 3
▲ Close

5:
# 300946. DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14
Cytogenetic location: Xp11.22
Matching terms: 300946
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xp11.22 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 300946 XLR 3 TSR2 300945
▲ Close
ICD+
ORPHA: 124
DO: 0111897
▲ Close

6:
# 610629. DIAMOND-BLACKFAN ANEMIA 3; DBA3
Cytogenetic location: 10q22.3
Matching terms: 610629
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
10q22.3 Diamond-blackfan anemia 3 610629 AD 3 RPS24 602412
▲ Close
ICD+
ORPHA: 124
DO: 0111887
▲ Close

7:
# 613308. DIAMOND-BLACKFAN ANEMIA 9; DBA9
Cytogenetic location: 6p21.31
Matching terms: 613308
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
6p21.31 Diamond-Blackfan anemia 9 613308 AD 3 RPS10 603632
▲ Close
ICD+
ORPHA: 124
DO: 0111884
▲ Close

8:
# 613309. DIAMOND-BLACKFAN ANEMIA 10; DBA10
Cytogenetic location: 12q13.2
Matching terms: 613309
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q13.2 Diamond-Blackfan anemia 10 613309 AD 3 RPS26 603701
▲ Close
ICD+
ORPHA: 124
DO: 0111888
▲ Close

9:
# 612527. DIAMOND-BLACKFAN ANEMIA 4; DBA4
Cytogenetic location: 15q25.2
Matching terms: 612527
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
15q25.2 Diamond-Blackfan anemia 4 612527 AD 3 RPS17 180472
▲ Close
ICD+
ORPHA: 124
DO: 0111890
▲ Close

10:
# 612528. DIAMOND-BLACKFAN ANEMIA 5; DBA5
Cytogenetic location: 3q29
Matching terms: 612528
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3q29 Diamond-Blackfan anemia 5 612528 AD 3 RPL35A 180468
▲ Close
ICD+
ORPHA: 124
DO: 0111883
▲ Close

« First  |  ‹ Previous  |  Next ›  |  Last »
Search: 105650 180468 180472 300945 300946 305371 602412 603474 603632 603633 603634 603658 603674 603685 603701 603702 603704 604174 604175 604179 606129 606164 607526 610629 612527 612528 612561 612562 612563 613308 613309 614900 615550 615909 618310 618312 618313 618315 (Search in: MIM number)
Results: 38 entries.

1:
# 105650. DIAMOND-BLACKFAN ANEMIA 1; DBA1
Cytogenetic location: 19q13.2
Matching terms: 105650

2:
% 606129. DIAMOND-BLACKFAN ANEMIA 2; DBA2
Cytogenetic location: 8p23.3-p22, Genomic coordinates (GRCh38): 8:1-19,200,000
Matching terms: 606129

3:
# 606164. DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
Cytogenetic location: 19p13.2
Matching terms: 606164

4:
* 300945. TSR2 RIBOSOME MATURATION FACTOR; TSR2
Cytogenetic location: Xp11.22, Genomic coordinates (GRCh38): X:54,440,404-54,448,032
Matching terms: 300945

5:
# 300946. DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14
Cytogenetic location: Xp11.22
Matching terms: 300946

6:
# 610629. DIAMOND-BLACKFAN ANEMIA 3; DBA3
Cytogenetic location: 10q22.3
Matching terms: 610629

7:
# 613308. DIAMOND-BLACKFAN ANEMIA 9; DBA9
Cytogenetic location: 6p21.31
Matching terms: 613308

8:
# 613309. DIAMOND-BLACKFAN ANEMIA 10; DBA10
Cytogenetic location: 12q13.2
Matching terms: 613309

9:
# 612527. DIAMOND-BLACKFAN ANEMIA 4; DBA4
Cytogenetic location: 15q25.2
Matching terms: 612527

10:
# 612528. DIAMOND-BLACKFAN ANEMIA 5; DBA5
Cytogenetic location: 3q29
Matching terms: 612528


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.

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