Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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 |
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 |
3 |
A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Decreased amniotic fluid production |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Bilateral hypotony of eyes due to ocular fistula |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Hypotony of left eye due to ocular fistula (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Hypotony of right eye due to ocular fistula |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Loss of subcutaneous fat |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Loss of subcutaneous fat overlying biceps muscle (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Loss of subcutaneous fat overlying triceps muscle (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Loss of subcutaneous fat overlying rib (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
A rare neurologic disease characterized by the presence of Duane retraction syndrome (a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Postpartum afibrinogenaemia with haemorrhage |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Psychogenic syncope (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Psychogenic syncope (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Alstrom syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Xeroderma of eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Pigmented xerodermoid |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group D |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, variant form |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group E |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group G |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group F |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group A |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Xeroderma pigmentosum, group C |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Vitamin A deficiency with xeroderma |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Xeroderma, talipes and enamel defect syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Non-neurologic xeroderma pigmentosum |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group B |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Senile xeroderma |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Drug-induced ichthyosiform reaction |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Dry skin dermatitis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma in genetic syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xerosis due to atopic dermatitis (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Xeroderma of left eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma of right eyelid (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma of right upper eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma of left upper eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma of lower eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma of upper eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Severe dry skin |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Dry skin of abdomen |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A painful restriction of joint motion caused by excessive scarring following injury or operative procedure. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of left wrist region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of right elbow |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of left shoulder (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of left knee (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of left ankle region (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of finger of left hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of left elbow |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of right knee (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of right wrist region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of bilateral wrist regions (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of left hand (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of right hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of finger of right hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of right shoulder |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Bilateral arthrofibrosis fibrosis of knees |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of bilateral ankle regions (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of right ankle region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of bilateral hands (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of ankle |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of wrist region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of elbow |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of knee |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of shoulder region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
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). |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
Senter syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Hypohidrosis due to neurological disorder (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Finding of decreased risk level |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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 |