Entry Search - 117550 606681 - OMIM
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Search: '117550 606681 (Search in: MIM number)'
Results: 2 entries.

1:
* 606681. NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1
NSD1/NUP98 FUSION GENE, INCLUDED
Cytogenetic location: 5q35.3, Genomic coordinates (GRCh38): 5:177,131,798-177,300,213
Matching terms: 606681
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
5q35.3 Sotos syndrome 117550 AD 3
ICD+
SNOMEDCT: 75968004
ICD10CM: Q87.3

2:
# 117550. SOTOS SYNDROME; SOTOS
Cytogenetic location: 5q35.3
Matching terms: 117550
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
5q35.3 Sotos syndrome 117550 AD 3 NSD1 606681
ICD+
SNOMEDCT: 75968004
ICD10CM: Q87.3
ORPHA: 821
DO: 0112103
Search: 117550 606681 (Search in: MIM number)
Results: 2 entries.

1:
* 606681. NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1
NSD1/NUP98 FUSION GENE, INCLUDED
Cytogenetic location: 5q35.3, Genomic coordinates (GRCh38): 5:177,131,798-177,300,213
Matching terms: 606681

2:
# 117550. SOTOS SYNDROME; SOTOS
Cytogenetic location: 5q35.3
Matching terms: 117550