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: C4072891
Disease: Abnormal circulating follicle-stimulating hormone level
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
CUI: C0454644
Disease: Delayed speech and language development
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: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 0
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		phenotype Finding 6 6 0.100 None 0 1
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: C4025133
Disease: Cortical thickening of long bone diaphyses
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
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: 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: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		phenotype Finding 21 2 0.100 None 0
CUI: C1970617
Disease: Hypoplastic spleen
Hypoplastic spleen 		phenotype Finding 2 0.100 None 0
CUI: C1867289
Disease: Retinal calcification
Retinal calcification 		phenotype Finding 2 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		phenotype Finding 3 0.100 None 0