Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Preauricular sinus |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Preauricular fistula |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital deformity of pinna |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Misplaced ear |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital stenosis of external auditory canal |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Preauricular cyst |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Preauricular dimple |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of ear lobe |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of external auditory canal (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Accessory tragus of ear |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microtia |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Polyotia |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Double auditory canal |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of external ear |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Macrotia |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital malposition of pinna |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Branchial cleft, cyst or fistula; preauricular sinus |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fistula of congenital auricle |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
fistule cervico-auriculaire |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Preauricular sinus, pit or fistula |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
[X]Other mis-shapen ear |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital fistula of auricle |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital cystic ear |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of auricle with atresia of auditory canal |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital stricture of external auditory canal (disorder) |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital cervicoaural fistula |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ear auricle and external auditory canal absent |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Gouty tophus of pinna (disorder) |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital abnormal shape of pinna |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Supernumerary external ear |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Accessory tragus |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital atresia of external auditory canal |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Supernumerary ear |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Polyotia |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cryptotia (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital deformity of pinna |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital atresia of right external ear (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cryptomicrotia brachydactyly syndrome |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital atresia of left external ear (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aplasia of auditory canal |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypoplasia of auditory canal (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Oculoauricular syndrome Schorderet type (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Bilateral congenital malformation of external ears |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital fistula of pinna of ear |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital cyst of pinna of ear |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital split ear lobe (disorder) |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Syndactyly, polydactyly, ear lobe syndrome (disorder) |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Conductive hearing loss, malformation of external ear syndrome (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of auricle with stenosis of auditory canal |
Is a |
False |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of lobe of ear (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital pigmented melanocytic nevus of skin of right ear (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital pigmented melanocytic naevus of skin of left ear |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital malformation of helix (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, cupped ears syndrome (disorder) |
Is a |
True |
Congenital abnormality of external ear |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|