Entry Search - 300275 300831 308050 - OMIM
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Search: '300275 300831 308050 (Search in: MIM number)'
Results: 3 entries.

2:
# 300831. CK SYNDROME; CKS
Cytogenetic location: Xq28
Matching terms: 300831
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xq28 CK syndrome 300831 XLR 3 NSDHL 300275
ICD+
SNOMEDCT: 773329005
ORPHA: 251383
DO: 0111898

3:
# 308050. CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Cytogenetic location: Xq28
Matching terms: 308050
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xq28 CHILD syndrome 308050 XLD 3 NSDHL 300275
ICD+
SNOMEDCT: 17608003
ORPHA: 139
DO: 0111822
Search: 300275 300831 308050 (Search in: MIM number)
Results: 3 entries.

1:
* 300275. NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:152,831,063-152,869,729
Matching terms: 300275

2:
# 300831. CK SYNDROME; CKS
Cytogenetic location: Xq28
Matching terms: 300831

3:
# 308050. CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Cytogenetic location: Xq28
Matching terms: 308050