Entry Search - 134934 187600 187601 - OMIM
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Search: '134934 187600 187601 (Search in: MIM number)'
Results: 3 entries.

1:
* 134934. FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
FGFR3/TACC3 FUSION GENE, INCLUDED
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,793,293-1,808,867
Matching terms: 134934
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
4p16.3 Achondroplasia 100800 AD 3
Bladder cancer, somatic 109800 3
CATSHL syndrome 610474 AD, AR 3
Cervical cancer, somatic 603956 3
Colorectal cancer, somatic 114500 3
Crouzon syndrome with acanthosis nigricans 612247 AD 3
Hypochondroplasia 146000 AD 3
LADD syndrome 2 620192 AD 3
Muenke syndrome 602849 AD 3
Nevus, epidermal, somatic 162900 3
SADDAN 616482 AD 3
Spermatocytic seminoma, somatic 273300 3
Thanatophoric dysplasia, type I 187600 AD 3
Thanatophoric dysplasia, type II 187601 AD 3
ICD+
SNOMEDCT: 205468002, 389157002, 389158007, 440350001, 702361006, 720601000, 787407003, 83015004, 86268005
ICD10CM: Q77.4

2:
# 187601. THANATOPHORIC DYSPLASIA, TYPE II; TD2
Cytogenetic location: 4p16.3
Matching terms: 187601
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
4p16.3 Thanatophoric dysplasia, type II 187601 AD 3 FGFR3 134934
ICD+
SNOMEDCT: 389158007
ORPHA: 2655, 93274
DO: 13481

3:
# 187600. THANATOPHORIC DYSPLASIA, TYPE I; TD1
Cytogenetic location: 4p16.3
Matching terms: 187600
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
4p16.3 Thanatophoric dysplasia, type I 187600 AD 3 FGFR3 134934
ICD+
SNOMEDCT: 389157002
ORPHA: 1860, 2655
DO: 13481
Search: 134934 187600 187601 (Search in: MIM number)
Results: 3 entries.

1:
* 134934. FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
FGFR3/TACC3 FUSION GENE, INCLUDED
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,793,293-1,808,867
Matching terms: 134934

2:
# 187601. THANATOPHORIC DYSPLASIA, TYPE II; TD2
Cytogenetic location: 4p16.3
Matching terms: 187601

3:
# 187600. THANATOPHORIC DYSPLASIA, TYPE I; TD1
Cytogenetic location: 4p16.3
Matching terms: 187600