Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Branchiootic syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Facial dysmorphism, conductive hearing loss, heart defect syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Keipert syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Otofaciocervical syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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 |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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). |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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 |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lowe Kohn Cohen syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oto-palato-digital syndrome, type I |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oto-palato-digital syndrome, type II |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Otopalatodigital syndrome |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Otopalatodigital syndrome |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
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). |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oculootodental syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Viral ear infection |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Auriculo-condylar syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oto-onycho-peroneal syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Auriculoocular anomaly and cleft lip syndrome |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Branchiogenic deafness syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ear, face and neck congenital anomalies (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sellars Beighton syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oto-palato-digital syndrome, type II |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare multiple congenital anomalies syndrome characterised by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital conductive hearing loss |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neoplasm of uncertain behaviour of ear |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Temporo-auro-mandibular dysostosis (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Chudley McCullough syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Flat face, microstomia, ear anomaly syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Deafness with onychodystrophy syndrome |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital cataract, hearing loss, severe developmental delay syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
DOORS syndrome |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Renal caliceal diverticuli and deafness syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Finding of ear discharge (finding) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fresh blood in external ear canal |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dried blood in external ear canal |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Blood in ear canal |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
On examination - blood from ear |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Blood discharge from ear |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
à l'examen : écoulement séreux d'une oreille |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
à l'examen : écoulement cireux d'une oreille |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
On examination - bloodstained ear discharge |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fishing hook in ear region |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Stickler syndrome type 3 (disorder) |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ear discharge symptoms |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
On examination - discharge from ear |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
à l'examen : sang dans le méat acoustique |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dissociative deafness |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple epiphyseal dysplasia Beighton type (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Johnson neuroectodermal syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemorrhagic otitis externa |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Waxy discharge from ear |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myhre syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fetal ear palpable vaginally |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anomaly of fetal ear |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Superficial foreign body of ear with infection |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital shortening of ear (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Effects of high altitude on ears |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Waardenburg syndrome type 3 |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Waardenburg syndrome type 1 (disorder) |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Waardenburg syndrome type 2 (disorder) |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autologous graft of rib cartilage to ear (procedure) |
Procedure site - Direct (attribute) |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cardiospondylocarpofacial syndrome (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Choroideremia with deafness and obesity syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital mixed conductive and sensorineural hearing loss |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Invasive aural aspergillosis |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit |
Finding site |
False |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebrospinal fluid otorrhea due to encephalocele |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebrospinal fluid otorrhoea due to congenital deformity of labyrinth |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebrospinal fluid otorrhea due to giant arachnoid granulation (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebrospinal fluid otorrhoea due to otitis media |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Taking ear swab |
Procedure site - Indirect (attribute) |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
High frequency conductive hearing loss |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Low frequency conductive hearing loss (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ear care |
Procedure site - Direct (attribute) |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autologous graft of rib cartilage to ear (procedure) |
Procedure site - Direct (attribute) |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Grafting of ear cartilage to ear (procedure) |
Procedure site - Direct (attribute) |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Plain X-ray of ear |
Procedure site - Direct (attribute) |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Benign glomus tumor of ear (disorder) |
Finding site |
True |
Ear structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |