| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Coenzyme A synthase protein associated neurodegeneration (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Beta-propeller protein-associated neurodegeneration |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Epilepsy telangiectasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Myoclonus, cerebellar ataxia, deafness syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Absent tibia, polydactyly, arachnoid cyst syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Thyrocerebrorenal syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Early-onset Lafora body disease (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Leukoencephalopathy, dystonia, motor neuropathy syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pseudoprogeria syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, digital anomaly, intellectual disability syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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 |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypogonadotropic hypogonadism retinitis pigmentosa syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, lymphoedema, chorioretinopathy syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pyridoxine-dependent epilepsy (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebral folate transport deficiency (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 2-methyl-3-hydroxybutyric aciduria |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Isolated follicle stimulating hormone deficiency (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cleft palate, large ears, small head syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive cerebellar ataxia with late-onset spasticity |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Progressive myoclonic epilepsy with dystonia (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spectrin-associated autosomal recessive cerebellar ataxia |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial dyskinesia and facial myokymia (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hot water reflex epilepsy |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness, encephaloneuropathy, obesity, valvulopathy syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial hyperprolactinemia (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypermethioninaemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterised by persistent hypermethioninaemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycaemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial myoclonus of cerebral cortex (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Fragile X associated tremor ataxia syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Episodic ataxia type 7 (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Episodic ataxia type 6 (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Episodic ataxia type 4 (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Episodic ataxia type 3 (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Episodic ataxia type 5 (EA5) is an extremely rare form of hereditary episodic ataxia characterised by recurrent episodes of vertigo and ataxia lasting several hours. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Agenesis of corpus callosum and abnormal genitalia syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oro-facial digital syndrome type 14 (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Action myoclonus renal failure syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial focal epilepsy with variable foci |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Rolandic epilepsy, speech dyspraxia syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial multiple benign meningioma |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pitt-Hopkins syndrome |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked non progressive cerebellar ataxia (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypomyelination neuropathy arthrogryposis syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Moebius syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypermanganesemia with dystonia (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ataxia pancytopenia syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Adult onset autosomal dominant leukodystrophy (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ribonucleic acid polymerase III-related leukodystrophy (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pelizaeus Merzbacher like disease (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebroretinal vasculopathy |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dermatoleukodystrophy |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic primordial dwarfism Alazami type |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| PEHO-like syndrome is a rare, genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic primordial dwarfism Dauber type |
Is a |
False |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial mesial temporal lobe epilepsy (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked cerebral, cerebellar, coloboma syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked parkinsonism with spasticity syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) |
Is a |
True |
Hereditary disorder of nervous system (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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