Entry Search - 114000 120150 - OMIM
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Search: '114000 120150 (Search in: MIM number)'
Results: 2 entries.

1:
* 120150. COLLAGEN, TYPE I, ALPHA-1; COL1A1
COL1A1/PDGFB FUSION GENE, INCLUDED
Cytogenetic location: 17q21.33, Genomic coordinates (GRCh38): 17:50,184,101-50,201,631
Matching terms: 120150
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
17q21.33 {Bone mineral density variation QTL, osteoporosis} 166710 AD 3
Caffey disease 114000 AD 3
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 619115 AD 3
Ehlers-Danlos syndrome, arthrochalasia type, 1 130060 AD 3
Osteogenesis imperfecta, type I 166200 AD 3
Osteogenesis imperfecta, type II 166210 AD 3
Osteogenesis imperfecta, type III 259420 AD 3
Osteogenesis imperfecta, type IV 166220 AD 3
ICD+
SNOMEDCT: 1197018005, 205496008, 205497004, 24752008, 254110009, 385482004, 385483009, 7134007, 715318006, 78314001
ICD10CM: M89.8, Q78.0, Q79.61
ICD9CM: 756.51

2:
# 114000. CAFFEY DISEASE; CAFYD
Cytogenetic location: 17q21.33
Matching terms: 114000
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
17q21.33 Caffey disease 114000 AD 3 COL1A1 120150
ICD+
SNOMEDCT: 24752008
ICD10CM: M89.8
ORPHA: 1310
DO: 4257
Search: 114000 120150 (Search in: MIM number)
Results: 2 entries.

1:
* 120150. COLLAGEN, TYPE I, ALPHA-1; COL1A1
COL1A1/PDGFB FUSION GENE, INCLUDED
Cytogenetic location: 17q21.33, Genomic coordinates (GRCh38): 17:50,184,101-50,201,631
Matching terms: 120150

2:
# 114000. CAFFEY DISEASE; CAFYD
Cytogenetic location: 17q21.33
Matching terms: 114000