Entry Search - 101200 176943 - OMIM
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Search: '101200 176943 (Search in: MIM number)'
Results: 2 entries.

1:
* 176943. FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
KERATINOCYTE GROWTH FACTOR RECEPTOR, INCLUDED; KGFR, INCLUDED
Cytogenetic location: 10q26.13, Genomic coordinates (GRCh38): 10:121,478,330-121,598,458
Matching terms: 176943
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
10q26.13 ?Scaphocephaly, maxillary retrusion, and impaired intellectual development 609579 3
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 AD 3
Apert syndrome 101200 AD 3
Beare-Stevenson cutis gyrata syndrome 123790 AD 3
Bent bone dysplasia syndrome 614592 AD 3
Craniofacial-skeletal-dermatologic dysplasia 101600 AD 3
Craniosynostosis, nonspecific 3
Crouzon syndrome 123500 AD 3
Gastric cancer, somatic 613659 3
Jackson-Weiss syndrome 123150 AD 3
LADD syndrome 1 149730 AD 3
Pfeiffer syndrome 101600 AD 3
Saethre-Chotzen syndrome 101400 AD 3
Scaphocephaly and Axenfeld-Rieger anomaly 3
ICD+
SNOMEDCT: 205258009, 62964007, 703528008, 70410008, 709105005, 83015004
ICD10CM: Q87.0

2:
# 101200. APERT SYNDROME
APERT-CROUZON DISEASE, INCLUDED
Cytogenetic location: 10q26.13
Matching terms: 101200
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
10q26.13 Apert syndrome 101200 AD 3 FGFR2 176943
ICD+
SNOMEDCT: 205258009
ICD10CM: Q87.0
ORPHA: 87
DO: 12960
Search: 101200 176943 (Search in: MIM number)
Results: 2 entries.

1:
* 176943. FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
KERATINOCYTE GROWTH FACTOR RECEPTOR, INCLUDED; KGFR, INCLUDED
Cytogenetic location: 10q26.13, Genomic coordinates (GRCh38): 10:121,478,330-121,598,458
Matching terms: 176943

2:
# 101200. APERT SYNDROME
APERT-CROUZON DISEASE, INCLUDED
Cytogenetic location: 10q26.13
Matching terms: 101200