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: C0375536
Disease: Congenital osteodystrophy
Congenital osteodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 1 0.010 None 1.000 1 2010 2010
CUI: C4551978
Disease: Short forearm
Short forearm
phenotype Anatomical Abnormality 1 0.010 None 1.000 1 2017 2017
CUI: C4706613
Disease: SHOX-related short stature
SHOX-related short stature
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2000 2000
CUI: C1851988
Disease: Dorsal subluxation of ulna
Dorsal subluxation of ulna
phenotype Finding 1 0.100 None 0
CUI: C1855276
Disease: Dorsolateral bowed, short radii
Dorsolateral bowed, short radii
phenotype Finding 1 0.300 strong 0
CUI: C4025460
Disease: Broad ulna
Broad ulna
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025745
Disease: Abnormal metatarsal morphology
Abnormal metatarsal morphology
phenotype Musculoskeletal Diseases Anatomical Abnormality 1 0.100 None 0
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.050 None 1.000 5 2000 2012
CUI: C1844706
Disease: Rudimentary fibula
Rudimentary fibula
phenotype Finding 2 0.100 None 0
CUI: C1855274
Disease: Mesomelic short stature
Mesomelic short stature
phenotype Finding 2 0.100 None 0
CUI: C1855277
Disease: Shortening of the tibia
Shortening of the tibia
phenotype Finding 2 0.100 None 0
CUI: C1855299
Disease: Forearm undergrowth
Forearm undergrowth
disease Anatomical Abnormality 2 0.100 None 0
CUI: C1855478
Disease: Increased carrying angle
Increased carrying angle
phenotype Finding 2 0.100 None 0
CUI: C0410536
Disease: Mesomelic dysplasia
Mesomelic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2002 2002
CUI: C1840088
Disease: Limited wrist movement
Limited wrist movement
phenotype Finding 3 0.100 None 0
Mesomelic/rhizomelic limb shortening
phenotype Finding 3 1 0.100 None 0
CUI: C1859860
Disease: Episodic ketoacidosis
Episodic ketoacidosis
phenotype Finding 4 0.100 None 0
CUI: C1856732
Disease: Aplasia/Hypoplasia of the fibula
Aplasia/Hypoplasia of the fibula
phenotype Finding 5 0.100 None 0
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 13 0.010 None 1.000 1 2000 2000
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: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones
phenotype Musculoskeletal Diseases Finding 6 0.100 None 0
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 2 0.200 None 1.000 19 1 2000 2018
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.030 None 1.000 3 2013 2016
CUI: C0036868
Disease: Sex Chromosome Aberrations
Sex Chromosome Aberrations
group Pathological Conditions, Signs and Symptoms Disease or Syndrome; Congenital Abnormality 8 0.010 None 1.000 1 1999 1999
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology
phenotype Anatomical Abnormality 8 1 0.100 None 0