Entry Search - 300008 300009 300535 300555 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '300008 300009 300535 300555 (Search in: MIM number)'
Results: 4 entries.

1:
# 300555. DENT DISEASE 2; DENT2
Cytogenetic location: Xq26.1
Matching terms: 300555
 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
Xq26.1 Dent disease 2 300555 XLR 3 OCRL 300535
Dent disease - PS300009 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
Xp11.23 Dent disease 1 XLR 3 300009 CLCN5 300008
Xq26.1 Dent disease 2 XLR 3 300555 OCRL 300535
ICD+
SNOMEDCT: 717790004
ORPHA: 1652, 93623
DO: 0050699, 0081454

2:
# 300009. DENT DISEASE 1; DENT1
Cytogenetic location: Xp11.23
Matching terms: 300009
 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
Xp11.23 Dent disease 1 300009 XLR 3 CLCN5 300008
Dent disease - PS300009 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
Xp11.23 Dent disease 1 XLR 3 300009 CLCN5 300008
Xq26.1 Dent disease 2 XLR 3 300555 OCRL 300535
ICD+
SNOMEDCT: 717789008
ORPHA: 1652, 93622
DO: 0050699, 0081453

3:
* 300008. CHLORIDE CHANNEL 5; CLCN5
Cytogenetic location: Xp11.23, Genomic coordinates (GRCh38): X:49,922,596-50,099,230
Matching terms: 300008
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xp11.23 Dent disease 1 300009 XLR 3
Hypophosphatemic rickets 300554 XLR 3
Nephrolithiasis, type I 310468 XLR 3
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 XLR 3
ICD+
SNOMEDCT: 444645005, 717789008

4:
* 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
Search: 300008 300009 300535 300555 (Search in: MIM number)
Results: 4 entries.

1:
# 300555. DENT DISEASE 2; DENT2
Cytogenetic location: Xq26.1
Matching terms: 300555

2:
# 300009. DENT DISEASE 1; DENT1
Cytogenetic location: Xp11.23
Matching terms: 300009

3:
* 300008. CHLORIDE CHANNEL 5; CLCN5
Cytogenetic location: Xp11.23, Genomic coordinates (GRCh38): X:49,922,596-50,099,230
Matching terms: 300008

4:
* 300535. OCRL INOSITOL POLYPHOSPHATE-5-PHOSPHATASE; OCRL
Cytogenetic location: Xq26.1, Genomic coordinates (GRCh38): X:129,540,259-129,592,556
Matching terms: 300535