Source: CLINVAR ×
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: C0268342
Disease: Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome type 6 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 13 0.770 strong 1.000 3 13 1993 2015
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Finding 6 6 0.100 None 0 1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 33 50 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 17 17 0.100 None 0 1
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 3 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 0 1
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 27 45 0.100 None 0 1
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype Finding 2 3 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 31 39 0.100 None 0 1
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 3 3 0.100 None 0 1
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		disease Musculoskeletal Diseases Disease or Syndrome 12 15 0.100 None 0 1
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 5 6 0.100 None 0 1
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		phenotype Congenital Abnormality 3 3 0.100 None 0 1
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 15 18 0.100 None 0 1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 46 66 0.100 None 0 1
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 45 62 0.100 None 0 1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 19 26 0.100 None 0 1
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 22 24 0.100 None 0 1
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		disease Disease or Syndrome 2 2 0.100 None 0 1