Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Oto-palato-digital syndrome, type I |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Waardenburg's syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Abruzzo Erickson syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Deafness and hypogonadism syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Spondyloepiphyseal dysplasia MacDermot type |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Multiple epiphyseal dysplasia Beighton type |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
High myopia and sensorineural deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Ataxia with deafness and intellectual disability syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Athabaskan brainstem dysgenesis syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
7 |
Bosley Salih Alorainy syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Camptodactyly and tall stature with scoliosis and hearing loss syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
CHIME syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
7 |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
4 |
Fine Lubinsky syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Fountain syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Deaf blind hypopigmentation syndrome Yemenite type |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Hirschsprung disease with deafness and polydactyly syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Johnson neuroectodermal syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Lipodystrophy, intellectual disability, deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
MEDNIK syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Severe X-linked intellectual disability Gustavson type |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
5 |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Ramos Arroyo syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
Nephrosis, deafness, urinary tract, digital malformation syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Caudal appendage deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Coxoauricular syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
2 |
Waardenburg Shah syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Nathalie syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Wolfram-like syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Branchiootic syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
6 |
Lowe Kohn Cohen syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Wildervanck syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Auditory synaptopathy |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Hereditary hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Progressive deafness with stapes fixation |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Deafness and oligodontia syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Melnick-Fraser syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Renal tubular acidosis with progressive nerve deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
X-linked spinocerebellar ataxia type 3 |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Charcot-Marie-Tooth disease type IE |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Senter syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
5 |
Keratitis ichthyosis and deafness syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
1 |
Autosomal recessive keratitis-ichthyosis-deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Familial amyloid nephropathy with urticaria AND deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Albinism-deafness syndrome of Tietz |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Diabetes mellitus AND insipidus with optic atrophy AND deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
Spastic paraparesis and deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Craniofacial deafness hand syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Emberger syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
3 |
Brown-Vialetto-Van Laere syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Myhre syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
7 |
Auditory dysfunction |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Diabetes-deafness syndrome maternally transmitted |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Normal auditory tuning fork test |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Hereditary sensory and autonomic neuropathy with deafness and global delay |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
X-linked hereditary sensory and autonomic neuropathy with deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
Bartter syndrome type 4a |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Bartter syndrome type 4 |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Tonal tinnitus |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Partial transitory deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Total transitory deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Transitory deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Infant recognises own name when spoken |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
|
Neural hearing loss of right ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Neural hearing loss of left ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Conductive hearing loss of left ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Conductive hearing loss of right ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Waardenburg syndrome type 3 |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
3 |
Retinitis pigmentosa-deafness syndrome type 3 |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Waardenburg syndrome type 1 |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Conductive hearing loss of left ear with normal hearing on right side |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Conductive hearing loss of right ear with normal hearing on left side |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Sensorineural hearing loss of right ear with normal hearing on left side |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Sensorineural hearing loss of left ear with normal hearing on right side |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Mixed conductive and sensorineural hearing loss of right ear with normal hearing on left side |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Mixed conductive and sensorineural hearing loss of left ear with normal hearing on right side |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Waardenburg syndrome type 2 |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Sensorineural hearing loss of right ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Sensorineural hearing loss of left ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Infant recognises own name when spoken |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1650529998 |
Mild hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
430230624 |
Moderate hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1818650627 |
Profound hearing loss |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
1766709288 |
Sensorineural deafness due to late congenital syphilis |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Cardiospondylocarpofacial syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Severe X-linked intellectual disability Gustavson type |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Beta-D-mannosidosis |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Choroideraemia with deafness and obesity syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
Mutilating keratoderma |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |