Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker phenotype HPO
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.100 Biomarker phenotype HPO
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.100 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		0.100 Biomarker phenotype HPO
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		0.100 Biomarker phenotype HPO
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 Biomarker phenotype HPO
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.100 Biomarker phenotype HPO
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		0.100 Biomarker disease HPO
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 GeneticVariation group BEFREE SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. 31390136 2019
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 GeneticVariation group BEFREE We confirm that bi-allelic truncating SMG9 variants cause a severe developmental syndrome including brain and heart malformations associated with facial dysmorphic features, severe growth and developmental delay with or without ophthalmological abnormalities, severe feeding difficulties, and life-threatening infections. 31390136 2019
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 GeneticVariation disease BEFREE Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder. 31390136 2019