Entry Search - 133100 133171 - OMIM
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Search: '133100 133171 (Search in: MIM number)'
Results: 2 entries.

1:
* 133171. ERYTHROPOIETIN RECEPTOR; EPOR
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:11,377,207-11,384,314
Matching terms: 133171
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
19p13.2 [Erythrocytosis, familial, 1] 133100 AD 3
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2:
# 133100. ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1
Cytogenetic locations: 9p24.1, 12q24.12, 19p13.2
Matching terms: 133100
► 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
9p24.1 Erythrocytosis, somatic 133100 3 JAK2 147796
12q24.12 Erythrocytosis, somatic 133100 3 SH2B3 605093
19p13.2 [Erythrocytosis, familial, 1] 133100 AD 3 EPOR 133171
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ICD+
ORPHA: 90042
DO: 0060652
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Search: 133100 133171 (Search in: MIM number)
Results: 2 entries.

1:
* 133171. ERYTHROPOIETIN RECEPTOR; EPOR
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:11,377,207-11,384,314
Matching terms: 133171

2:
# 133100. ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1
Cytogenetic locations: 9p24.1, 12q24.12, 19p13.2
Matching terms: 133100


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: June 1, 2024