Entry Search - 127300 312865 400020 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '127300 312865 400020 (Search in: MIM number)'
Results: 3 entries.

1:
* 312865. SHORT STATURE HOMEOBOX; SHOX
Cytogenetic location: Xp22.33, Genomic coordinates (GRCh38): X:624,344-659,411
Matching terms: 312865
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xp22.33 Langer mesomelic dysplasia 249700 PR 3
Leri-Weill dyschondrosteosis 127300 PD 3
Short stature, idiopathic familial 300582 3
ICD+
SNOMEDCT: 17818006, 38494008

2:
# 127300. LERI-WEILL DYSCHONDROSTEOSIS; LWD
MADELUNG DEFORMITY, INCLUDED
Cytogenetic locations: Xp22.33, Yp11.2
Matching terms: 127300
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xp22.33 Leri-Weill dyschondrosteosis 127300 PD 3 SHOX 312865
Yp11.2 Leri-Weill dyschondrosteosis 127300 PD 3 SHOXY 400020
ICD+
SNOMEDCT: 17818006
ORPHA: 240
DO: 0060847

3:
* 400020. SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY
Cytogenetic location: Yp11.2, Genomic coordinates (GRCh38): Y:624,344-659,411
Matching terms: 400020
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Yp11.2 Langer mesomelic dysplasia 249700 PR 3
Leri-Weill dyschondrosteosis 127300 PD 3
Short stature, idiopathic familial 300582 3
Search: 127300 312865 400020 (Search in: MIM number)
Results: 3 entries.

1:
* 312865. SHORT STATURE HOMEOBOX; SHOX
Cytogenetic location: Xp22.33, Genomic coordinates (GRCh38): X:624,344-659,411
Matching terms: 312865

2:
# 127300. LERI-WEILL DYSCHONDROSTEOSIS; LWD
MADELUNG DEFORMITY, INCLUDED
Cytogenetic locations: Xp22.33, Yp11.2
Matching terms: 127300

3:
* 400020. SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY
Cytogenetic location: Yp11.2, Genomic coordinates (GRCh38): Y:624,344-659,411
Matching terms: 400020