| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Vici syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microphthalmia with brain atrophy syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Acro-oto-ocular syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Aphalangy and syndactyly with microcephaly syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic syndromic intellectual disability characterised by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Brain calcification Rajab type (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniosynostosis and intracranial calcification syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cystic leucoencephalopathy without megalencephaly |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebrooculonasal syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Filippi syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hall Riggs syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial Alzheimer-like prion disease (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Brain dopamine-serotonin vesicular transport disease (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hydrocephalus with obesity and hypogonadism syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Lowry MacLean syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Isotretinoin embryopathy-like syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypogonadism with anosmia |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oculocerebrofacial syndrome Kaufman type |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Crome syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Galloway Mowat syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe X-linked mitochondrial encephalomyopathy (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe X-linked intellectual disability Gustavson type (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic, developmental defect during embryogenesis disorder characterised by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Infantile dystonia parkinsonism (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Inherited autonomic nervous system disorder (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Facial onset sensory and motor neuronopathy syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ethylmalonic encephalopathy (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial acute necrotizing encephalopathy (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Non-progressive cerebellar ataxia with intellectual disability (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Renier Gabreels Jasper syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Sensorineural hearing loss, early greying, essential tremor syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Kufor Rakeb syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare systemic disease characterised by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhoea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid haemorrhage. Poikiloderma and premature greying of the hair may be additionally observed. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hereditary cerebral hemorrhage with amyloidosis (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Neuroectodermal melanolysosomal disease |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic primordial dwarfism due to ZNF335 deficiency |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| McLeod neuroacanthocytosis syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Infantile choroidocerebral calcification syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal dominant striatal neurodegeneration (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive cerebellar ataxia Beauce type (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic osteodysplastic primordial dwarfism types I and III |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive ataxia due to ubiquinone deficiency (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pyridoxal 5-phosphate dependent epilepsy (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Isolated hypoplasia of optic nerve (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Epileptic encephalopathy with global cerebral demyelination (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cataract, congenital heart disease, neural tube defect syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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