Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hearing difficulty |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
perte d'audition différée pendant des accès de vertige |
Is a |
False |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hearing for whisper impaired |
Is a |
False |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hearing for conversational voice impaired |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hearing for loud voice impaired (finding) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hearing for voice impaired |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Finding related to ability to hear voice abnormal |
Is a |
False |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Unable to hear whisper |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Unable to hear conversational voice |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Unable to hear loud voice |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital conductive hearing loss |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Beta-D-mannosidosis |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit |
Is a |
False |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant spastic paraplegia type 29 |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Stickler syndrome type 3 (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Deafness with onychodystrophy syndrome |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Duane retraction syndrome with congenital deafness |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital cochleovestibular malformation (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alstrom syndrome |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Otodental syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Albinism with deafness syndrome |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Keratitis ichthyosis and deafness syndrome |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Wolfram syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mitchell syndrome |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital deafness with labyrinthine aplasia, microtia and microdontia |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) |
Is a |
True |
Decreased hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|