Entry Search - 604173 613276 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '604173 613276 (Search in: MIM number)'
Results: 2 entries.

1:
* 613276. U6 SMALL NUCLEAR RNA BIOGENESIS PHOSPHODIESTERASE 1; USB1
Cytogenetic location: 16q21, Genomic coordinates (GRCh38): 16:57,999,603-58,021,618
Matching terms: 613276
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16q21 Poikiloderma with neutropenia 604173 AR 3
▲ Close
ICD+
SNOMEDCT: 772126000
▲ Close

2:
# 604173. POIKILODERMA WITH NEUTROPENIA; PN
Cytogenetic location: 16q21
Matching terms: 604173
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
16q21 Poikiloderma with neutropenia 604173 AR 3 USB1 613276
▲ Close
ICD+
SNOMEDCT: 772126000
ORPHA: 221046
DO: 0060551
▲ Close
Search: 604173 613276 (Search in: MIM number)
Results: 2 entries.

1:
* 613276. U6 SMALL NUCLEAR RNA BIOGENESIS PHOSPHODIESTERASE 1; USB1
Cytogenetic location: 16q21, Genomic coordinates (GRCh38): 16:57,999,603-58,021,618
Matching terms: 613276

2:
# 604173. POIKILODERMA WITH NEUTROPENIA; PN
Cytogenetic location: 16q21
Matching terms: 604173


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.

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