Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Dominant sensorineural hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked sensorineural hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Recessive sensorineural hearing loss (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Perinatal sensorineural hearing loss |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Postnatal acquired sensorineural hearing loss |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
surdité pour fréquences basses |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Presbycusis |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensorineural hearing loss of combined sites |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Central hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mid frequency deafness |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neural hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mixed conductive AND sensorineural hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensory hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensorineural hearing loss of bilateral ears |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Unilateral sensorineural hearing loss with unrestricted hearing on the contralateral side |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Combined perceptive hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
surdité aux hautes fréquences |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ototoxicity - deafness |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Unspecified perceptive hearing loss |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Perceptive hearing loss NOS |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pili torti-deafness syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Postoperative profound sensorineural hearing loss |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autoimmune sensorineural hearing loss (disorder) |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Asymmetrical sensorineural hearing loss (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acquired sensorineural hearing loss (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital sensorineural hearing loss (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Profound sensorineural hearing loss |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Rubella deafness |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alstrom syndrome |
Has definitional manifestation |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sudden sensorineural hearing loss (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hearing loss and salivary gland insensitivity to aldosterone syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Epithelio-exfoliative colitis and deafness syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare syndrome characterised by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Is a |
True |
Sensorineural hearing loss |
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 |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
DOORS syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ocular albinism with late-onset sensorineural deafness (disorder) |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Albinism with deafness syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital cataract with deafness and hypogonadism syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Distal renal tubular acidosis co-occurrent with sensorineural deafness |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ichthyose-Hypotrichose-Syndrom |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Gingival fibromatosis with progressive deafness syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Palmoplantar keratoderma with deafness syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensorineural hearing loss, early greying, essential tremor syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nephropathy, deafness, hyperparathyroidism syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypoparathyroidism, deafness, renal disease syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Myoclonus, cerebellar ataxia, deafness syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Deafness, small bowel diverticulosis, neuropathy syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Postlingual non-syndromic genetic deafness |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Prelingual non-syndromic genetic deafness (disorder) |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alstrom syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alport syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). |
Is a |
False |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hutchinson's triad |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chudley McCullough syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypotrichosis and deafness syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Auditory synaptopathy |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal tubular acidosis with progressive nerve deafness |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked spinocerebellar ataxia type 3 |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type IE (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial amyloid nephropathy with urticaria AND deafness |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Wolfram syndrome (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Brown-Vialetto-Van Laere syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Maternally inherited diabetes and deafness (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensorineural hearing loss of right ear (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensorineural hearing loss of left ear (disorder) |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensorineural deafness due to late congenital syphilis |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nathalie syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
MEDNIK syndrome |
Is a |
True |
Sensorineural hearing loss |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|