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: C4021027
Disease: Abnormality of the medullary cavity of the long bones
Abnormality of the medullary cavity of the long bones 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4072891
Disease: Abnormal circulating follicle-stimulating hormone level
Abnormal circulating follicle-stimulating hormone level 		phenotype Finding 1 0.100 None 0
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: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 2 0.020 None 1.000 2 2013 2014
CUI: C1867289
Disease: Retinal calcification
Retinal calcification 		phenotype Finding 2 0.100 None 0
CUI: C1970617
Disease: Hypoplastic spleen
Hypoplastic spleen 		phenotype Finding 2 0.100 None 0
CUI: C1855657
Disease: Calvarial osteosclerosis
Calvarial osteosclerosis 		phenotype Finding 3 0.100 None 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		phenotype Finding 3 0.100 None 0
CUI: C4022179
Disease: Stenosis of the medullary cavity of the long bones
Stenosis of the medullary cavity of the long bones 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0151940
Disease: Hypocalcemic tetany
Hypocalcemic tetany 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1854417
Disease: Postnatal macrocephaly
Postnatal macrocephaly 		phenotype Finding 4 0.100 None 0
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Finding 4 0.100 None 0
CUI: C4025133
Disease: Cortical thickening of long bone diaphyses
Cortical thickening of long bone diaphyses 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		disease Endocrine System Diseases Congenital Abnormality 5 1 0.100 None 0
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: C0424939
Disease: Learning difficulties
Learning difficulties 		phenotype Finding 6 6 0.100 None 0 1
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones 		phenotype Finding 6 0.100 None 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0266050
Disease: Failure of exfoliation of primary tooth
Failure of exfoliation of primary tooth 		phenotype Disease or Syndrome 12 1 0.100 None 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 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: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		phenotype Pathologic Function 22 3 0.100 None 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group Congenital Abnormality 23 1 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype Finding 32 1 0.100 None 0