| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Bartter syndrome type 4a (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Bartter syndrome type 4 |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Partial transitory deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Total transitory deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Transitory deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Neural hearing loss of right ear |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Neural hearing loss of left ear (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Retinitis pigmentosa-deafness syndrome type 3 (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Sensorineural deafness due to late congenital syphilis |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Mutilating keratoderma |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Congenital hearing disorder |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
7 |
| Pili torti-deafness syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| X-linked sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized 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. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Maternal perinatal sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Neonatal sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Fetal sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| Non-syndromic mitochondrial sensorineural deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
8 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
7 |
| A rare mitochondrial disease characterized 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. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
7 |
| 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. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
| A rare neurologic disease characterized by the presence of Duane retraction syndrome (a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Auditory brainstem electric response audiometry with click stimulation |
Procedure site - Direct (attribute) |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Auditory brainstem electric response audiometry with tone stimulation |
Procedure site - Direct (attribute) |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Profound hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
| Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Senter syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| 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. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Postlingual non-syndromic genetic deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Prelingual non-syndromic genetic deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Structure of left auditory system (body structure) |
Is a |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Structure of right auditory system |
Is a |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Usher syndrome type 1F (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia characterized 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. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 2 patients present early with optic atrophy, diabetes mellitus, deafness and decreased lifespan but without diabetes insipidus. Caused by homozygous mutation in the CISD2 gene on chromosome 4q24. Transmission is autosomal recessive. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| Misophonia (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic neurological disorder with characteristics of childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in an increasing and decreasing course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Inconsistent results on voice testing |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Voice testing inconclusive |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
7 |
| Absent acoustic reflex |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]