SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 2
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 3 0.100 None 0
CUI: C1855274
Disease: Mesomelic short stature
Mesomelic short stature 		phenotype Finding 2 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		phenotype Finding 14 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 0.100 None 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		phenotype Finding 31 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0
CUI: C1442903
Disease: Exostoses
Exostoses 		phenotype Musculoskeletal Diseases Disease or Syndrome 37 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype Musculoskeletal Diseases Finding 25 0.100 None 0
CUI: C1840088
Disease: Limited wrist movement
Limited wrist movement 		phenotype Finding 3 0.100 None 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		disease Anatomical Abnormality 33 1 0.100 None 0
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		phenotype Finding 14 1 0.100 None 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.100 None 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		phenotype Musculoskeletal Diseases Finding 6 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C1844706
Disease: Rudimentary fibula
Rudimentary fibula 		phenotype Finding 2 0.100 None 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		phenotype Anatomical Abnormality 8 1 0.100 None 0
CUI: C1855277
Disease: Shortening of the tibia
Shortening of the tibia 		phenotype Finding 2 0.100 None 0
CUI: C1859860
Disease: Episodic ketoacidosis
Episodic ketoacidosis 		phenotype Finding 4 0.100 None 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 50 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0