| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Hereditary gingival fibromatosis |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal dominant hereditary disorder (disorder) |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Familial visceral neuropathy |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Adult hypophosphatasia |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Crigler-Najjar syndrome |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Retinitis pigmentosa |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Childhood hypophosphatasia |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| HNSHA due to hexokinase deficiency |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Erythropoietic protoporphyria |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Infantile hypophosphatasia |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary spherocytosis |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections. |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive hereditary disorder |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Congenital dystrophia brevicollis |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| brevicollis congénital |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Non dystrophic myotonia (disorder) |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| 2-hydroxyglutaric aciduria |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Familial primary hypomagnesemia with normocalciuria (disorder) |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Bone dysplasia Azouz type |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hypomagnesemia co-occurrent with normocalciuria (disorder) |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Distal muscular dystrophy |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Insulin resistance - type A |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| 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). |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Rare, isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic coagulation disorder characterised by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion dependent. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Megacystis, microcolon, hypoperistalsis syndrome |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Brachyolmia |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary clubbing (disorder) |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Autoimmune lymphoproliferative syndrome |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Arrhythmogenic right ventricular dysplasia (disorder) |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Adams-Oliver syndrome |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Blount disease |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta type 5 (disorder) |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Erythrokeratodermia variabilis |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Hypodysfibrinogenaemia |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Combined malonic and methylmalonic aciduria |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic isolated inherited retinal disorder characterised by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, colour vision alteration, followed by night blindness and loss of peripheral visual field. |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Trehalase deficiency |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Aicardi Goutieres syndrome type 1 |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterized by facial and skeletal muscle weakness and mild respiratory involvement. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Actin accumulation myopathy (disorder) |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Intermediate nemaline myopathy |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is ACTA1 (1q42.13). |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3). |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms. |
Is a |
True |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Long QT syndrome type 11 (disorder) |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Long QT syndrome type 10 (disorder) |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Long QT syndrome type 3 (disorder) |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Long QT syndrome type 12 (disorder) |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Long QT syndrome type 13 (disorder) |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
| Long QT syndrome type 4 (disorder) |
Is a |
False |
Autosomal hereditary disorder |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]