Entry Search - 123400 137440 176640 245300 600072 603218 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '123400 137440 176640 245300 600072 603218 (Search in: MIM number)'
Results: 6 entries.

1:
* 176640. PRION PROTEIN; PRNP
Cytogenetic location: 20p13, Genomic coordinates (GRCh38): 20:4,686,456-4,701,588
Matching terms: 176640
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
20p13 {Kuru, susceptibility to} 245300 3
Cerebral amyloid angiopathy, PRNP-related 137440 AD 3
Creutzfeldt-Jakob disease 123400 AD 3
Gerstmann-Straussler disease 137440 AD 3
Huntington disease-like 1 603218 AD 3
Insomnia, fatal familial 600072 AD 3
Spongiform encephalopathy with neuropsychiatric features 606688 AD 3
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ICD+
SNOMEDCT: 67155006, 784371009, 792004, 83157008
ICD10CM: A81.0, A81.00, A81.82, A81.83
ICD9CM: 046.1, 046.71, 046.72
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2:
# 123400. CREUTZFELDT-JAKOB DISEASE; CJD
CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED
Cytogenetic locations: 6p21.32, 20p13
Matching terms: 123400
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
6p21.32 {Creutzfeldt-Jakob disease, variant, resistance to} 123400 AD 3 HLA-DQB1 604305
20p13 Creutzfeldt-Jakob disease 123400 AD 3 PRNP 176640
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ICD+
SNOMEDCT: 304603007, 713060000, 715807002, 792004
ICD10CM: A81.0, A81.00, A81.01, A81.09
ICD9CM: 046.1, 046.11
ORPHA: 204, 282166, 454700
DO: 11949
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3:
# 600072. FATAL FAMILIAL INSOMNIA; FFI
Cytogenetic location: 20p13
Matching terms: 600072
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
20p13 Insomnia, fatal familial 600072 AD 3 PRNP 176640
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ICD+
SNOMEDCT: 83157008
ICD10CM: A81.83
ICD9CM: 046.72
ORPHA: 466
DO: 0050433
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4:
# 137440. GERSTMANN-STRAUSSLER DISEASE; GSD
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED
Cytogenetic locations: 20p13,
Matching terms: 137440
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
20p13 Cerebral amyloid angiopathy, PRNP-related 137440 AD 3 PRNP 176640
20p13 Gerstmann-Straussler disease 137440 AD 3 PRNP 176640
▲ Close
ICD+
SNOMEDCT: 67155006
ICD10CM: A81.82
ICD9CM: 046.71
ORPHA: 356
DO: 4249
▲ Close

5:
# 603218. HUNTINGTON DISEASE-LIKE 1; HDL1
Cytogenetic location: 20p13
Matching terms: 603218
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
20p13 Huntington disease-like 1 603218 AD 3 PRNP 176640
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ICD+
SNOMEDCT: 784371009
ORPHA: 157941
DO: 0090103
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6:
# 245300. KURU, SUSCEPTIBILITY TO
Cytogenetic location: 20p13
Matching terms: 245300
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
20p13 {Kuru, susceptibility to} 245300 3 PRNP 176640
▲ Close
ICD+
ORPHA: 454745
▲ Close
Search: 123400 137440 176640 245300 600072 603218 (Search in: MIM number)
Results: 6 entries.

1:
* 176640. PRION PROTEIN; PRNP
Cytogenetic location: 20p13, Genomic coordinates (GRCh38): 20:4,686,456-4,701,588
Matching terms: 176640

2:
# 123400. CREUTZFELDT-JAKOB DISEASE; CJD
CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED
Cytogenetic locations: 6p21.32, 20p13
Matching terms: 123400

3:
# 600072. FATAL FAMILIAL INSOMNIA; FFI
Cytogenetic location: 20p13
Matching terms: 600072

4:
# 137440. GERSTMANN-STRAUSSLER DISEASE; GSD
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED
Cytogenetic locations: 20p13,
Matching terms: 137440

5:
# 603218. HUNTINGTON DISEASE-LIKE 1; HDL1
Cytogenetic location: 20p13
Matching terms: 603218

6:
# 245300. KURU, SUSCEPTIBILITY TO
Cytogenetic location: 20p13
Matching terms: 245300


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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