Entry Search - 193400 277480 613160 613554 - OMIM
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Search: '193400 277480 613160 613554 (Search in: MIM number)'
Results: 4 entries.

1:
* 613160. VON WILLEBRAND FACTOR; VWF
Cytogenetic location: 12p13.31, Genomic coordinates (GRCh38): 12:5,948,877-6,124,670
Matching terms: 613160
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
12p13.31 von Willebrand disease, type 1 193400 AD 3
von Willebrand disease, type 3 277480 AR 3
von Willebrand disease, types 2A, 2B, 2M, and 2N 613554 AD, AR 3
ICD+
SNOMEDCT: 128106003, 128108002, 359711001, 359717002, 359732009
ICD10CM: D68.01, D68.020, D68.021, D68.022, D68.023, D68.03

2:
# 613554. VON WILLEBRAND DISEASE, TYPE 2; VWD2
VON WILLEBRAND DISEASE, TYPE 2A, INCLUDED; VWD2A, INCLUDED
Cytogenetic location: 12p13.31
Matching terms: 613554
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
12p13.31 von Willebrand disease, types 2A, 2B, 2M, and 2N 613554 AD, AR 3 VWF 613160
ICD+
SNOMEDCT: 128107007, 359711001, 359717002, 359732009
ICD10CM: D68.02, D68.020, D68.021, D68.022, D68.023, D68.029
ORPHA: 166081, 166084, 166087, 166090, 166093, 903
DO: 0060574

3:
# 193400. VON WILLEBRAND DISEASE, TYPE 1; VWD1
Cytogenetic location: 12p13.31
Matching terms: 193400
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
12p13.31 von Willebrand disease, type 1 193400 AD 3 VWF 613160
ICD+
SNOMEDCT: 128106003
ICD10CM: D68.01
ORPHA: 166078, 903
DO: 0060573

4:
# 277480. VON WILLEBRAND DISEASE, TYPE 3; VWD3
Cytogenetic location: 12p13.31
Matching terms: 277480
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
12p13.31 von Willebrand disease, type 3 277480 AR 3 VWF 613160
ICD+
SNOMEDCT: 128108002
ICD10CM: D68.03
ORPHA: 166096, 903
DO: 0111054
Search: 193400 277480 613160 613554 (Search in: MIM number)
Results: 4 entries.

1:
* 613160. VON WILLEBRAND FACTOR; VWF
Cytogenetic location: 12p13.31, Genomic coordinates (GRCh38): 12:5,948,877-6,124,670
Matching terms: 613160

2:
# 613554. VON WILLEBRAND DISEASE, TYPE 2; VWD2
VON WILLEBRAND DISEASE, TYPE 2A, INCLUDED; VWD2A, INCLUDED
Cytogenetic location: 12p13.31
Matching terms: 613554

3:
# 193400. VON WILLEBRAND DISEASE, TYPE 1; VWD1
Cytogenetic location: 12p13.31
Matching terms: 193400

4:
# 277480. VON WILLEBRAND DISEASE, TYPE 3; VWD3
Cytogenetic location: 12p13.31
Matching terms: 277480