Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Postlingual non-syndromic genetic deafness |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Prelingual non-syndromic genetic deafness (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Diastrophic dysplasia |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Intracranial hypotension due to cerebrospinal fluid otorrhea (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Intracranial hypotension due to cerebrospinal fluid rhinorrhoea |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Decreased fertility |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased fertility in male (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Oliguria following molar pregnancy (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Oliguria following ectopic pregnancy |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Pena-Shokeir syndrome type I (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Marden Walker syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
7 |
Hecht syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Decreased corneal reflex |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased jaw reflex (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased triceps reflex (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased biceps reflex |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased supinator reflex (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased abdominal reflex |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased sacral reflex |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased anal reflex (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased knee reflex (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased ankle reflex |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased reflex |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased finger jerk reflex (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased suprapatellar jerk reflex |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased tendon reflex (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Psychomotor retardation due to and following embolic cerebrovascular accident (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Psychomotor retardation due to and following cerebrovascular accident with intracranial hemorrhage |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Psychomotor retardation due to and following ischemic cerebrovascular accident |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
Decreased active range of ankle dorsiflexion (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of ankle dorsiflexion (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of ankle plantar flexion (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of ankle plantar flexion |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 2 patients present early with optic atrophy, diabetes mellitus, deafness and decreased lifespan but without diabetes insipidus. Caused by homozygous mutation in the CISD2 gene on chromosome 4q24. Transmission is autosomal recessive. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of foot (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of left foot |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of right foot |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of bilateral feet (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of left hip (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of right hip (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of bilateral hips |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of hip (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of bilateral shoulder regions (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Misophonia (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A finding of decreased blood pressure; not necessarily a hypotensive disorder. |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Intraocular pressure of right eye below reference range (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Intraocular pressure of left eye below reference range (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Intraocular pressure of bilateral eyes below reference range |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
7 |
A rare genetic neurological disorder with characteristics of childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in an increasing and decreasing course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Decreased relative to baseline (qualifier value) |
Is a |
True |
Decreased |
Inferred relationship |
Some |
|
Decreased relative to expected (qualifier value) |
Is a |
True |
Decreased |
Inferred relationship |
Some |
|
Limited ability to open mouth |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Congenital contracture of toe joint of right foot |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Congenital contracture of toe joint of left foot (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Congenital contracture of toe joint of bilateral feet (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
8 |
A rare, genetic premature ovarian failure characterised by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in FMR1 gene. This is defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhoea), irregular ovulation and altered hormone profile (hypooestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Testicular hypofunction due to and following radiotherapy (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Hypothyroidism due to and following radiotherapy (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Hypospermatogenesis due to and following radiotherapy (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Testicular hypofunction caused by ionizing radiation (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Xeroderma of left lower eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma of right lower eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Flat anterior chamber of left eye with hypotony (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Flat anterior chamber of right eye with hypotony (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Flat anterior chamber of bilateral eyes with hypotony |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased susceptibility to infections (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Postprocedural ovarian failure |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Autosomal dominant hypocalcemia (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased vocal resonance |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Congenital flexion contracture of foot joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Progressive flexion contracture of joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of bilateral joints of wrist |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Flexion contracture of cervical spine joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of carpometacarpal joint of thumb (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of proximal interphalangeal joints of index, middle, ring and little finger |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Plantar flexion contracture of ankle joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Flexion contracture of distal interphalangeal joint of little finger (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of distal interphalangeal joint of fifth toe |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of distal interphalangeal joint of second toe (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of distal interphalangeal joint of index finger |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of distal interphalangeal joint of third toe (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of distal interphalangeal joint of fourth toe (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of distal interphalangeal joint of ring finger |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of distal interphalangeal joint of middle finger (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |