Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Chronic constrictive pericarditis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Constrictive pericarditis caused by virus (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Infective constrictive pericarditis (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Constrictive pericarditis caused by bacteria (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Constrictive pericarditis caused by Mycobacterium tuberculosis complex (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Hepatic coma due to viral hepatitis D (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased renal function |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
Decreased renal clearance |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
Decreased renin secretion |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
Decreased level of spiritual stress |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Decreased level of relocation stress (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Syncope caused by centrifugal force in flying |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Transient loss of consciousness. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Cardiac syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Effort syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Malignant vasovagal syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Elderly vasovagal syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Vasovagal syncope due to immersion |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Situational syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Micturition syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Defecation syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Deglutition syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Syncope caused by centrifugal force in flying |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Stokes-Adams attack |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Syncope and collapse |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Heat syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Vasovagal syncope (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Tussive syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Hypotensive syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Syncope due to orthostatic hypotension |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Syncope due to autonomic failure |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Witnessed syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Hypohidrosis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Segmental hypohidrosis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Ross syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Hypohidrosis-diabetes insipidus syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
8 |
Hypohidrosis with neurolabyrinthitis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
Hypohidrosis due to genetic abnormality of eccrine gland structure and function (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Hypohidrosis of unknown etiology (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Hypohidrosis co-occurrent and due to disorder of sympathetic nervous system (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Abnormal decrease in quantity |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Neuronal depopulation |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Suizidrisiko vermindert |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Post-thyroidectomy hypoparathyroidism |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Postsurgical testicular hypofunction |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Reduced concentration span |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Ovarioleukodystrophy |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Behavior showing reduced motor activity |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Slowness and poor responsiveness |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Stillness |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Frozen watchfulness |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Delayed start to movement (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Lack of spontaneous movement |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arms not swung when walking |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Difficulty in initiating movement |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Neonatal hypokinesia |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Psychomotor retardation |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of muscle following injury |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Deteriorating renal function |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Abnormal decrease in number |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short, bowed femurs may also be associated. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Iatrogenic myxedema coma (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Myxedema coma due to subclinical hypothyroidism (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
albinisme oculaire avec surdité neurosensorielle congénitale |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
4 |
Hypoparathyroidism due to Wilson disease |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Allan-Herndon-Dudley syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Decreased lactation |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Effusive constrictive pericarditis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Contracture of joint of finger of bilateral hands due to scar (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
After-cataract with vision obscured following extraction of cataract (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Drug-induced insulin coma in nondiabetic (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Deposits on intraocular lens obscuring vision |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Loss of ultrafiltration |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Autosomal dominant familial isolated hypoparathyroidism |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Autosomal recessive familial isolated hypoparathyroidism |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Cardiac pacemaker syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |