Entry Search - 151100 164757 164760 176872 176876 611554 613707 - OMIM
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Search: '151100 164757 164760 176872 176876 611554 613707 (Search in: MIM number)'
Results: 7 entries.

1:
# 613707. LEOPARD SYNDROME 3; LPRD3
Cytogenetic location: 7q34
Matching terms: 613707
 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
7q34 LEOPARD syndrome 3 613707 AD 3 BRAF 164757
LEOPARD syndrome - PS151100 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
3p25.2 LEOPARD syndrome 2 AD 3 611554 RAF1 164760
7q34 LEOPARD syndrome 3 AD 3 613707 BRAF 164757
12q24.13 LEOPARD syndrome 1 AD 3 151100 PTPN11 176876
ICD+
ORPHA: 500
DO: 0080550

2:
# 611554. LEOPARD SYNDROME 2; LPRD2
Cytogenetic location: 3p25.2
Matching terms: 611554
 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
3p25.2 LEOPARD syndrome 2 611554 AD 3 RAF1 164760
LEOPARD syndrome - PS151100 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
3p25.2 LEOPARD syndrome 2 AD 3 611554 RAF1 164760
7q34 LEOPARD syndrome 3 AD 3 613707 BRAF 164757
12q24.13 LEOPARD syndrome 1 AD 3 151100 PTPN11 176876
ICD+
ORPHA: 500
DO: 0080549

3:
# 151100. LEOPARD SYNDROME 1; LPRD1
Cytogenetic location: 12q24.13
Matching terms: 151100
 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
12q24.13 LEOPARD syndrome 1 151100 AD 3 PTPN11 176876
LEOPARD syndrome - PS151100 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
3p25.2 LEOPARD syndrome 2 AD 3 611554 RAF1 164760
7q34 LEOPARD syndrome 3 AD 3 613707 BRAF 164757
12q24.13 LEOPARD syndrome 1 AD 3 151100 PTPN11 176876
ICD+
SNOMEDCT: 111306001
ORPHA: 500
DO: 0080548

4:
* 164757. B-RAF PROTOONCOGENE, SERINE/THREONINE KINASE; BRAF
BRAF/AKAP9 FUSION GENE, INCLUDED
Cytogenetic location: 7q34, Genomic coordinates (GRCh38): 7:140,713,328-140,924,929
Matching terms: 164757
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
7q34 Adenocarcinoma of lung, somatic 211980 3
Cardiofaciocutaneous syndrome 115150 AD 3
Colorectal cancer, somatic 114500 3
LEOPARD syndrome 3 613707 AD 3
Melanoma, malignant, somatic 155600 3
Nonsmall cell lung cancer, somatic 211980 3
Noonan syndrome 7 613706 AD 3
ICD+
SNOMEDCT: 403770008

5:
* 164760. RAF1 PROTOONCOGENE, SERINE/THREONINE KINASE ; RAF1
RAF1/SRGAP3 FUSION GENE, INCLUDED
Cytogenetic location: 3p25.2, Genomic coordinates (GRCh38): 3:12,583,601-12,664,117
Matching terms: 164760
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
3p25.2 Cardiomyopathy, dilated, 1NN 615916 AD 3
LEOPARD syndrome 2 611554 AD 3
Noonan syndrome 5 611553 AD 3

7:
* 176876. PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11
Cytogenetic location: 12q24.13, Genomic coordinates (GRCh38): 12:112,418,947-112,509,918
Matching terms: 176876
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
12q24.13 LEOPARD syndrome 1 151100 AD 3
Leukemia, juvenile myelomonocytic, somatic 607785 3
Metachondromatosis 156250 AD 3
Noonan syndrome 1 163950 AD 3
ICD+
SNOMEDCT: 205481009, 205684007, 205824006
ICD10CM: Q87.19
Search: 151100 164757 164760 176872 176876 611554 613707 (Search in: MIM number)
Results: 7 entries.

1:
# 613707. LEOPARD SYNDROME 3; LPRD3
Cytogenetic location: 7q34
Matching terms: 613707

2:
# 611554. LEOPARD SYNDROME 2; LPRD2
Cytogenetic location: 3p25.2
Matching terms: 611554

3:
# 151100. LEOPARD SYNDROME 1; LPRD1
Cytogenetic location: 12q24.13
Matching terms: 151100

4:
* 164757. B-RAF PROTOONCOGENE, SERINE/THREONINE KINASE; BRAF
BRAF/AKAP9 FUSION GENE, INCLUDED
Cytogenetic location: 7q34, Genomic coordinates (GRCh38): 7:140,713,328-140,924,929
Matching terms: 164757

5:
* 164760. RAF1 PROTOONCOGENE, SERINE/THREONINE KINASE ; RAF1
RAF1/SRGAP3 FUSION GENE, INCLUDED
Cytogenetic location: 3p25.2, Genomic coordinates (GRCh38): 3:12,583,601-12,664,117
Matching terms: 164760

6:
* 176872. MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1
Cytogenetic location: 15q22.31, Genomic coordinates (GRCh38): 15:66,386,912-66,491,544
Matching terms: 176872

7:
* 176876. PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11
Cytogenetic location: 12q24.13, Genomic coordinates (GRCh38): 12:112,418,947-112,509,918
Matching terms: 176876