Entry Search - 270400 602858 - OMIM
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Search: '270400 602858 (Search in: MIM number)'
Results: 2 entries.

1:
* 602858. 7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7
Cytogenetic location: 11q13.4, Genomic coordinates (GRCh38): 11:71,434,411-71,448,393
Matching terms: 602858
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11q13.4 Smith-Lemli-Opitz syndrome 270400 AR 3
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ICD+
SNOMEDCT: 43929004
ICD10CM: E78.72
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2:
# 270400. SMITH-LEMLI-OPITZ SYNDROME; SLOS
Cytogenetic location: 11q13.4
Matching terms: 270400
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
11q13.4 Smith-Lemli-Opitz syndrome 270400 AR 3 DHCR7 602858
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ICD+
SNOMEDCT: 43929004
ICD10CM: E78.72
ORPHA: 818
DO: 14692
▲ Close
Search: 270400 602858 (Search in: MIM number)
Results: 2 entries.

1:
* 602858. 7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7
Cytogenetic location: 11q13.4, Genomic coordinates (GRCh38): 11:71,434,411-71,448,393
Matching terms: 602858

2:
# 270400. SMITH-LEMLI-OPITZ SYNDROME; SLOS
Cytogenetic location: 11q13.4
Matching terms: 270400


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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: April 25, 2024