Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Traumatic deafness, non-occupational |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Toxic deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hearing for voice impaired |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Difficulty hearing speech in large group setting (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bone conduction deafness (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Auditory neuropathy spectrum disorder (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital deafness |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital hearing disorder |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acoustic reflex finding (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Deafness of right ear |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Deafness of left ear (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hearing loss of right ear (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hearing loss of left ear (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired sensorineural hearing loss (disorder) |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acquired deaf mutism |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital deaf mutism |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital prelingual deafness |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Echo in ear (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral tinnitus |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital sensorineural hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Profound sensorineural hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Deafness-dystonia-optic neuronopathy syndrome (disorder) |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ear pit syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Jervell and Lange-Nielsen syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital anomaly of ear with impairment of hearing |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mild to moderate hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rubella deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Perception of hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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. |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Sudden sensorineural hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephaly with deafness and intellectual disability syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hearing loss and salivary gland insensitivity to aldosterone syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sellars Beighton syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Epithelio-exfoliative colitis and deafness syndrome |
Interprets |
False |
Hearing |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Abnormal finding on auditory function study (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Stapes ankylosis with broad thumb and toe syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cardiospondylocarpofacial syndrome (disorder) |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Choroideremia with deafness and obesity syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
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). |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Deafness and intellectual disability Martin Probst type syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Branchiogenic deafness syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral microtia with deafness and cleft palate syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
DOORS syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Oculootoradial syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ocular albinism with late-onset sensorineural deafness (disorder) |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Albinism with deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital cataract with deafness and hypogonadism syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acquired hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Distal renal tubular acidosis co-occurrent with sensorineural deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ichthyose-Hypotrichose-Syndrom |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Gingival fibromatosis with progressive deafness syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thickened earlobe with conductive deafness syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Palmoplantar keratoderma with deafness syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Sensorineural hearing loss, early greying, essential tremor syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nephropathy, deafness, hyperparathyroidism syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypospadias, hypertelorism, coloboma, deafness syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypoparathyroidism, deafness, renal disease syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Sudden idiopathic hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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. |
Interprets |
False |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Myoclonus, cerebellar ataxia, deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Deafness, small bowel diverticulosis, neuropathy syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic paraplegia, nephritis, deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Mild acquired hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Moderate acquired hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Severe acquired hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Profound acquired hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital conductive hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital mixed conductive and sensorineural hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Retinitis pigmentosa-deafness syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Retinitis pigmentosa-deafness-ataxia syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Usher syndrome type 1 |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Usher syndrome type 2 |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Keipert syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |