| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Gouty tophus of pinna (disorder) |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Neurofibromatosis type 2 |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Jervell and Lange-Nielsen syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Jervell and Lange-Nielson syndrome |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pili torti-deafness syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness-dystonia-optic neuronopathy syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Auriculo-condylar syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oto-onycho-peroneal syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cochleosaccular degeneration and cataract syndrome (disorder) |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic paraparesis and deafness |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Richards-Rundle syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Charcot-Marie-Tooth disease type IE (disorder) |
Is a |
True |
Auditory system hereditary disorder |
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 |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephaly with deafness and intellectual disability syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Nathalie syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hearing loss and salivary gland insensitivity to aldosterone syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Sellars Beighton syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Abruzzo Erickson syndrome |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness and hypogonadism syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Stapes ankylosis with broad thumb and toe syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cardiospondylocarpofacial syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
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 |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic syndromic intellectual disability characterised by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated. |
Is a |
True |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Bosley Salih Alorainy syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Choroideremia with deafness and obesity syndrome |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Fine Lubinsky syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deaf blind hypopigmentation syndrome Yemenite type |
Is a |
True |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness and intellectual disability Martin Probst type syndrome (disorder) |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Branchiogenic deafness syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hirschsprung disease with deafness and polydactyly syndrome |
Is a |
True |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Bilateral microtia with deafness and cleft palate syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| DOORS syndrome |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Isotretinoin embryopathy-like syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| MEDNIK syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oculootoradial syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ocular albinism with late-onset sensorineural deafness (disorder) |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Albinism with deafness syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital cataract with deafness and hypogonadism syndrome |
Is a |
True |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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. |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ichthyose-Hypotrichose-Syndrom |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe X-linked intellectual disability Gustavson type (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Gingival fibromatosis with progressive deafness syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Thickened earlobe with conductive deafness syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Palmoplantar keratoderma with deafness syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ramos Arroyo syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Split hand, split foot malformation with sensorineural hearing loss syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Sensorineural hearing loss, early greying, essential tremor syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Nephropathy, deafness, hyperparathyroidism syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypospadias, hypertelorism, coloboma, deafness syndrome |
Is a |
False |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cryptomicrotia brachydactyly syndrome |
Is a |
True |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
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 |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Coxoauricular syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ectodermal dysplasia and sensorineural deafness syndrome (disorder) |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Myoclonus, cerebellar ataxia, deafness syndrome |
Is a |
True |
Auditory system hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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