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: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 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: 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: C0544755
Disease: Genu varum
Genu varum 		phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		phenotype Finding 14 1 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: C1844706
Disease: Rudimentary fibula
Rudimentary fibula 		phenotype Finding 2 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C1855478
Disease: Increased carrying angle
Increased carrying angle 		phenotype Finding 2 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C0025995
Disease: Micromelia
Micromelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease Anatomical Abnormality 40 3 0.100 None 0
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		disease Anatomical Abnormality 10 2 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: C4025460
Disease: Broad ulna
Broad ulna 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype Anatomical Abnormality 14 0.100 None 0
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality 32 51 0.100 None 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		phenotype Anatomical Abnormality 8 1 0.100 None 0