Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Flat anterior chamber of eye with hypotony |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Secondary hypotony of eye |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Hypotony of eye |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Primary hypotony of eye |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Ocular fistula causing hypotony of eye |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Traumatic hypotonia (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Oliguria following molar AND/OR ectopic pregnancy |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Open fracture of vault of skull with loss of consciousness |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Oligozoospermia due to drug therapy |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Alacrima |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome but differs by the presence of intellectual disability in all affected individuals. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Decreased red reflex (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Keratoconjunctivitis sicca (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Keratoconjunctivitis sicca (excluding Sjögren syndrome) (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Keratoconjunctivitis sicca, in Sjögren's syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Plantar flexion contracture of tarsometatarsal joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
External rotation contracture-shoulder |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrogryposis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture - elbow |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of toe joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of wrist joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joint of spine (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joint of hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Contracture of joint of thumb |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of hip joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of distal interphalangeal joint of finger (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of knee joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Extension contracture of the wrist |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joint of shoulder region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of ankle joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Ulnar deviation contracture of the wrist |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Pronation contracture of wrist (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Contracture of joint of foot (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of metacarpophalangeal joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Capsular pattern of joint movement limitation (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Contracture of joint of toe |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Extension contracture of metacarpophalangeal joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of proximal interphalangeal joint of finger (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Internal rotation contracture-shoulder |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Extension contracture of hip |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Limitation of movement of temporomandibular joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Adduction contracture of hip |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Internal rotation contracture of hip |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
External rotation contracture of hip |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Active range of joint movement reduced |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Equinus contracture of the ankle |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Passive range of joint movement reduced |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Flexion contracture of metatarsophalangeal joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Extension contracture of metatarsophalangeal joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
à l'examen : contracture articulaire |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture - wrist |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Flexion contracture of toe interphalangeal joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Extension contracture of toe interphalangeal joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Limitation of joint movement |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Amyoplasie, kongenitale |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Extension contracture-shoulder |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Radial deviation contracture of the wrist (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Supination contracture of wrist (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Adduction contracture-shoulder |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
On examination - flexion contracture |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of subtalar joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of elbow joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Extension contracture - elbow |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of right hip joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joint of right wrist (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joint of left ankle (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of left knee joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture of hip |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of left elbow joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joint of left wrist (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Congenital flexion contracture of knee |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Bilateral contracture of joints of ankles |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Flexion contracture of the knee |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Familial arthrogryposis-cholestatic hepatorenal syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Congenital generalized flexion contractures of lower limb joints |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Decreased range of knee movement |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of knee extension |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of knee extension (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of knee internal rotation |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |