| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Familial chondromalacia of patella (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures. So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Prothrombin G20210A mutation (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Arthrochalasia Ehlers-Danlos syndrome (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, with characteristics of retinal atrophy and retinal detachment leading to loss of central vision, then peripheral vision, and eventually blindness. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Hereditary distal onycholysis |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Diaphyseal medullary stenosis with bone malignancy (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic haematologic disease characterised by mild chronic haemolytic anaemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinaemia. Other cells and tissues are not affected. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. The kidney tumors range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterized by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma. Other characteristic skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations usually develop in the third and fourth decades of life and persist indefinitely. The syndrome is transmitted in an autosomal dominant fashion. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Leri-Weill dyschondrosteosis |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Nievergelt's syndrome |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Neuroferritinopathy (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Hecht syndrome |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Long QT syndrome type 9 |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Long QT syndrome type 11 (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Malignant hyperthermia caused by anesthetic (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Familial hypocalciuric hypercalcaemia |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Periodontal Ehlers-Danlos syndrome (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Familial articular hypermobility syndrome (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Hereditary well-differentiated neuroendocrine tumor of small intestine (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Activated PI3K-delta syndrome |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant hereditary arginine vasopressin resistance (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant hereditary arginine vasopressin deficiency (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 2 |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Singleton-Merten syndrome |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A form of rare hemochromatosis (HC) with characteristics of increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. The disease is due to gain-of-function (GOF) mutations of the ferroportin gene (SLC40A1) on chromosome 2. These mutations cause an hepcidin-independent increase in cellular iron export with increased intestinal iron absorption and iron release from spleen macrophages. Transmission is autosomal dominant. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare disorder of iron metabolism and transport characterised by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anaemia and elevated of serum ferritin levels. Ferroportin disease is distinct from haemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalization, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and ophthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Photoptarmosis |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| The presence of congenital unilateral hypoplasia of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy. May present as an isolated clinical finding however when it is present in conjunction with other congenital malformations the disorder is referred to as syndrome. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant combined immunodeficiency due to Aiolos deficiency (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Familial hyperaldosteronism |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant combined immunodeficiency due to ERBIN deficiency |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare hyper-IgE syndrome characterised by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteraemia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhoea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant hyperimmunoglobulin M syndrome due to AID deficiency |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant agammaglobulinaemia due to PU.1 deficiency |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant combined immunodeficiency due to STAT5b mutation |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Familial juvenile hyperuricemic nephropathy (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant combined variable immunodeficiency due to TWEAK mutation |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant combined variable immunodeficiency due to nuclear factor kappa B subunit 1 mutation (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare parkinsonian syndrome due to neurodegenerative disease characterised by resting tremor (which may initially be asymmetric), rigidity, and bradykinesia. Polyneuropathy with neurogenic electromyography findings is present in the majority of the patients and reported in young age (early twenties) whereas parkinsonian symptoms are visible later in life (between 40 and 70 years of age). Additional clinical symptoms may include anxiety and depression. Mild diffuse muscular atrophy can also be detected in some patients. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic, hemorrhagic disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, bleeding gums and excessive bleeding after minor trauma or surgical procedures. Severity of bleeding is variable, and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor V (FV) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas bleeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon 13 is known as Atlanta bleeding disorder. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare non-severe combined immunodeficiency characterized by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypoplasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare primary congenital hypothyroidism characterised by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
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