Entry Search - 300535 309000 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '300535 309000 (Search in: MIM number)'
Results: 2 entries.

1:
* 300535. OCRL INOSITOL POLYPHOSPHATE-5-PHOSPHATASE; OCRL
Cytogenetic location: Xq26.1, Genomic coordinates (GRCh38): X:129,540,259-129,592,556
Matching terms: 300535
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xq26.1 Dent disease 2 300555 XLR 3
Lowe syndrome 309000 XLR 3
ICD+
SNOMEDCT: 717790004, 79385002
ICD10CM: E72.03

2:
# 309000. LOWE OCULOCEREBRORENAL SYNDROME; OCRL
Cytogenetic location: Xq26.1
Matching terms: 309000
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xq26.1 Lowe syndrome 309000 XLR 3 OCRL 300535
ICD+
SNOMEDCT: 79385002
ICD10CM: E72.03
ORPHA: 534
DO: 1056
Search: 300535 309000 (Search in: MIM number)
Results: 2 entries.

1:
* 300535. OCRL INOSITOL POLYPHOSPHATE-5-PHOSPHATASE; OCRL
Cytogenetic location: Xq26.1, Genomic coordinates (GRCh38): X:129,540,259-129,592,556
Matching terms: 300535

2:
# 309000. LOWE OCULOCEREBRORENAL SYNDROME; OCRL
Cytogenetic location: Xq26.1
Matching terms: 309000