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: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 5 0.720 strong 1.000 2 5 2013 2019
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 2 0.710 strong 1.000 3 2 2013 2014
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 0.510 strong 1.000 2 2013 2019
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
disease Endocrine System Diseases Disease or Syndrome 92 15 0.110 None 1.000 1 2013 2013
Abnormal circulating follicle-stimulating hormone level
phenotype Finding 1 0.100 None 0
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones
phenotype Finding 6 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C1833144
Disease: Slender long bone
Slender long bone
phenotype Finding 35 5 0.100 None 0
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
disease Endocrine System Diseases Congenital Abnormality 5 1 0.100 None 0
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification
phenotype Pathologic Function 22 3 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina
group Eye Diseases Disease or Syndrome 49 24 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification
group Congenital Abnormality 23 1 0.100 None 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 11 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis
phenotype Finding 32 1 0.100 None 0
CUI: C1854417
Disease: Postnatal macrocephaly
Postnatal macrocephaly
phenotype Finding 4 0.100 None 0
Cortical thickening of long bone diaphyses
disease Anatomical Abnormality 4 0.100 None 0
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia
phenotype Nutritional and Metabolic Diseases Finding 4 0.100 None 0
Stenosis of the medullary cavity of the long bones
disease Disease or Syndrome 3 0.100 None 0
Abnormality of the medullary cavity of the long bones
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel
phenotype Finding 21 2 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0