Entry Search - 203300 603401 604310 604982 606118 606682 607145 607521 607522 608233 609762 614072 614073 614074 614075 614076 614077 614171 617050 - OMIM
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Search: '203300 603401 604310 604982 606118 606682 607145 607521 607522 608233 609762 614072 614073 614074 614075 614076 614077 614171 617050 (Search in: MIM number)'
Results: 19 entries.
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1:
# 203300. HERMANSKY-PUDLAK SYNDROME 1; HPS1
Cytogenetic location: 10q24.2
Matching terms: 203300
 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
10q24.2 Hermansky-Pudlak syndrome 1 203300 AR 3 HPS1 604982
ICD+
ORPHA: 231500, 79430
DO: 0060539

2:
# 608233. HERMANSKY-PUDLAK SYNDROME 2; HPS2
Cytogenetic location: 5q14.1
Matching terms: 608233
 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
5q14.1 Hermansky-Pudlak syndrome 2 608233 AR 3 AP3B1 603401
ICD+
ORPHA: 183678, 79430
DO: 0060540

3:
# 614072. HERMANSKY-PUDLAK SYNDROME 3; HPS3
Cytogenetic location: 3q24
Matching terms: 614072
 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
3q24 Hermansky-Pudlak syndrome 3 614072 AR 3 HPS3 606118
ICD+
ORPHA: 231512, 79430
DO: 0060541

4:
# 614073. HERMANSKY-PUDLAK SYNDROME 4; HPS4
Cytogenetic location: 22q12.1
Matching terms: 614073
 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
22q12.1 Hermansky-Pudlak syndrome 4 614073 AR 3 HPS4 606682
ICD+
ORPHA: 231500, 79430
DO: 0060542

5:
# 614074. HERMANSKY-PUDLAK SYNDROME 5; HPS5
Cytogenetic location: 11p15.1
Matching terms: 614074
 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
11p15.1 Hermansky-Pudlak syndrome 5 614074 AR 3 HPS5 607521
ICD+
ORPHA: 231512, 79430
DO: 0060543

6:
# 614075. HERMANSKY-PUDLAK SYNDROME 6; HPS6
Cytogenetic location: 10q24.32
Matching terms: 614075
 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
10q24.32 Hermansky-Pudlak syndrome 6 614075 AR 3 HPS6 607522
ICD+
ORPHA: 231512, 79430
DO: 0060544

7:
# 614076. HERMANSKY-PUDLAK SYNDROME 7; HPS7
Cytogenetic location: 6p22.3
Matching terms: 614076
 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
6p22.3 Hermansky-Pudlak syndrome 7 614076 AR 3 DTNBP1 607145
ICD+
ORPHA: 231531, 79430
DO: 0060545

8:
# 614077. HERMANSKY-PUDLAK SYNDROME 8; HPS8
Cytogenetic location: 19q13.32
Matching terms: 614077
 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
19q13.32 Hermansky-Pudlak syndrome 8 614077 AR 3 BLOC1S3 609762
ICD+
ORPHA: 231531, 231537, 79430
DO: 0060546

9:
# 614171. HERMANSKY-PUDLAK SYNDROME 9; HPS9
Cytogenetic location: 15q21.1
Matching terms: 614171
 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
15q21.1 ?Hermansky-Pudlak syndrome 9 614171 AR 3 BLOC1S6 604310
ICD+
ORPHA: 231531, 280663, 79430
DO: 0060547


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Search: 203300 603401 604310 604982 606118 606682 607145 607521 607522 608233 609762 614072 614073 614074 614075 614076 614077 614171 617050 (Search in: MIM number)
Results: 19 entries.

1:
# 203300. HERMANSKY-PUDLAK SYNDROME 1; HPS1
Cytogenetic location: 10q24.2
Matching terms: 203300

2:
# 608233. HERMANSKY-PUDLAK SYNDROME 2; HPS2
Cytogenetic location: 5q14.1
Matching terms: 608233

3:
# 614072. HERMANSKY-PUDLAK SYNDROME 3; HPS3
Cytogenetic location: 3q24
Matching terms: 614072

4:
# 614073. HERMANSKY-PUDLAK SYNDROME 4; HPS4
Cytogenetic location: 22q12.1
Matching terms: 614073

5:
# 614074. HERMANSKY-PUDLAK SYNDROME 5; HPS5
Cytogenetic location: 11p15.1
Matching terms: 614074

6:
# 614075. HERMANSKY-PUDLAK SYNDROME 6; HPS6
Cytogenetic location: 10q24.32
Matching terms: 614075

7:
# 614076. HERMANSKY-PUDLAK SYNDROME 7; HPS7
Cytogenetic location: 6p22.3
Matching terms: 614076

8:
# 614077. HERMANSKY-PUDLAK SYNDROME 8; HPS8
Cytogenetic location: 19q13.32
Matching terms: 614077

9:
# 614171. HERMANSKY-PUDLAK SYNDROME 9; HPS9
Cytogenetic location: 15q21.1
Matching terms: 614171

10:
* 609762. BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOC1S3
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,178,784-45,217,083
Matching terms: 609762