Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
MEDNIK syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterised by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Maternal perinatal sensorineural hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neonatal sensorineural hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fetal sensorineural hearing loss (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant spastic paraplegia type 29 |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Non-syndromic mitochondrial sensorineural deafness (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
High frequency sensorineural hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Low frequency sensorineural hearing loss (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|