Entry Search - 125310 600276 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '125310 600276 (Search in: MIM number)'
Results: 2 entries.

1:
* 600276. NOTCH RECEPTOR 3; NOTCH3
Cytogenetic location: 19p13.12, Genomic coordinates (GRCh38): 19:15,159,038-15,200,995
Matching terms: 600276
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
19p13.12 ?Myofibromatosis, infantile 2 615293 AD 3
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 AD 3
Lateral meningocele syndrome 130720 AD 3

2:
# 125310. CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1
Cytogenetic location: 19p13.12
Matching terms: 125310
 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
19p13.12 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 AD 3 NOTCH3 600276
ICD+
SNOMEDCT: 390936003
ICD10CM: I67.850
ORPHA: 136
DO: 0111035
Search: 125310 600276 (Search in: MIM number)
Results: 2 entries.

1:
* 600276. NOTCH RECEPTOR 3; NOTCH3
Cytogenetic location: 19p13.12, Genomic coordinates (GRCh38): 19:15,159,038-15,200,995
Matching terms: 600276

2:
# 125310. CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1
Cytogenetic location: 19p13.12
Matching terms: 125310