anencephaly|C0002902|anencephaly|C0002902|1.0
anencephaly|C0002902|death in utero or perinatally|C4538561|1.0
anencephaly|C0002902|neural tube defects|C0027794|1.0
anencephaly|C0002902|congenital onset|C1836142|1.0
anencephaly|C0002902|caused by mutation in the tripartite motif-containing protein 36 gene|C4538560|1.0
anencephaly|C0002902|rachischisis|C0266508|1.0
anencephaly|C0002902|one patient with a confirmed trim36 mutation has been reported|C4538562|1.0
autism|C0004352|impaired ability to form peer relationships|C1837649|1.0
autism|C0004352|lack of spontaneous play|C1837650|1.0
autism|C0004352|restrictive behavior, interests, and activities|C2675334|1.0
autism|C0004352|eeg abnormalities in 20-50%|C1837686|1.0
autism|C0004352|onset by 3 years of age|C1837690|1.0
autism|C0004352|impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures|C1837648|1.0
autism|C0004352|impaired social interaction|C0150080|1.0
autism|C0004352|male to female ratio 4:1|C1842033|1.0
autism|C0004352|associated with untreated phenylketonuria|C1837694|1.0
autism|C0004352|seizures in 15-30%|C1837685|1.0
autism|C0004352|mental retardation in 75%|C1837684|1.0
autism|C0004352|occurs in 2-5 per 10,000 individuals|C1837691|1.0
autism|C0004352|genetic heterogeneity|C1968925|1.0
autism|C0004352|associated with fragile x syndrome|C1859590|1.0
autism|C0004352|impaired language development|C1837687|1.0
autism|C0004352|increased serum serotonin in 25%|C1837688|1.0
autism|C0004352|associated with tuberous sclerosis|C1837693|1.0
autism|C0004352|inflexible adherence to routines or rituals|C1837653|1.0
autism|C0004352|stereotyped behavior|C0038271|1.0
bipolar affective disorder|C1852197|depression with mania|C1852198|1.0
bipolar affective disorder|C1852197|depression with hypomania|C1852199|1.0
cadasil syndrome|C0751587|abnormal visual evoked responses|C1852243|1.0
cadasil syndrome|C0751587|vasculopathy of the small arteries penetrating the white matter|C1852235|1.0
cadasil syndrome|C0751587|affected arteries have electron-dense granular material close to vascular smooth muscle cell membranes|C1852238|1.0
cadasil syndrome|C0751587|gait abnormality|C0575081|1.0
cadasil syndrome|C0751587|lesions in the internal capsule after age 40 years|C1852232|1.0
cadasil syndrome|C0751587|leukoencephalopathy|C0270612|1.0
cadasil syndrome|C0751587|patients 30-40 years old have hyperintense lesions in periventricular areas, the external capsule, basal ganglia, thalamus, and brainstem|C1852230|1.0
cadasil syndrome|C0751587|recurrent subcortical infarcts|C1852224|1.0
cadasil syndrome|C0751587|microbleeds (most smaller than 5 mm) occur after age 40 years|C1852233|1.0
cadasil syndrome|C0751587|lacunar infarcts develop after age 40 years|C1852231|1.0
cadasil syndrome|C0751587|death usually in sixth decade|C1852247|1.0
cadasil syndrome|C0751587|electroretinogram abnormal|C0476397|1.0
cadasil syndrome|C0751587|patients older than 50 years have hyperintensities, lacunar infarcts, and microbleeds|C1852234|1.0
cadasil syndrome|C0751587|affected arteries show loss of smooth muscle cells|C1852239|1.0
cadasil syndrome|C0751587|long perforating arteries of the brain are affected|C1852237|1.0
cadasil syndrome|C0751587|acute vision loss due to optic nerve infarction|C3276550|1.0
cadasil syndrome|C0751587|biopsy shows granular osmiophilic material of variable electron density adjacent to basal membrane of vascular smooth muscle cell|C1852244|1.0
cadasil syndrome|C0751587|affective disorder|C0525045|1.0
cadasil syndrome|C0751587|varicose veins|C1969953|1.0
cadasil syndrome|C0751587|pseudobulbar palsy|C0033790|1.0
cadasil syndrome|C0751587|presents as early-onset strokes in 43% of patients|C1852249|1.0
cadasil syndrome|C0751587|adult onset|C1852246|1.0
cadasil syndrome|C0751587|patients 20-30 years old have hyperintense lesions on t2-weighted mri in the frontal and anterior temporal lobes|C1852229|1.0
cadasil syndrome|C0751587|psychiatric disturbances|C1852240|1.0
cadasil syndrome|C0751587|urinary incontinence|C0042024|1.0
cadasil syndrome|C0751587|naion|C1852242|1.0
cadasil syndrome|C0751587|migraine|C1852226|1.0
cadasil syndrome|C0751587|subcortical dementia, progressive|C1852225|1.0
cadasil syndrome|C0751587|small and medium-sized leptomeningeal arteries show luminal narrowing or obliteration|C1852236|1.0
cadasil syndrome|C0751587|caused by mutations in the homolog of the drosophila notch 3 gene (notch3, 600276.0001).|C1852245|1.0
cadasil syndrome|C0751587|subcortical lacunar lesions seen early in disease|C1852228|1.0
cadasil syndrome|C0751587|seizures|C1852227|1.0
cadasil syndrome|C0751587|penetrance of disease is complete between 30 and 40 years of age|C1852248|1.0
cavernous hemangioma of brain|C2919945|incomplete penetrance|C1836598|1.0
cavernous hemangioma of brain|C2919945|caused by mutation in the krev interaction trapped 1 gene (krit1 604214.0001).|C2675853|1.0
cavernous hemangioma of brain|C2919945|soft tissue vascular malformations|C1861792|1.0
cavernous hemangioma of brain|C2919945|intracranial hemorrhage|C0151699|1.0
cavernous hemangioma of brain|C2919945|mri is best imaging modality to detect lesions|C1861789|1.0
cavernous hemangioma of brain|C2919945|hepatic vascular malformations|C1861790|1.0
cavernous hemangioma of brain|C2919945|intracranial thin-walled sinusoidal vessel (cavernous) malformations|C1861787|1.0
cavernous hemangioma of brain|C2919945|focal neurologic deficits|C0746857|1.0
cavernous hemangioma of brain|C2919945|genetic heterogeneity|C1861798|1.0
cavernous hemangioma of brain|C2919945|multiple lesions in familial cases|C1861796|1.0
cavernous hemangioma of brain|C2919945|hyperkeratotic cutaneous vascular lesions|C1861793|1.0
cavernous hemangioma of brain|C2919945|seizures|C0036572|1.0
cavernous hemangioma of brain|C2919945|retinal vascular malformation|C1861791|1.0
cavernous hemangioma of brain|C2919945|most common age of clinical onset ranges from 16 to 33 years|C3149031|1.0
cavernous hemangioma of brain|C2919945|cerebral calcification|C0270685|1.0
cavernous hemangioma of brain|C2919945|headache|C0018681|1.0
cavernous hemangioma of brain|C2919945|angiographically 'silent'|C1861788|1.0
cavernous hemangioma of brain|C2919945|single lesions in sporadic cases|C1861797|1.0
central diabetes insipidus|C0687720|alkalosis|C0002063|1.0
central diabetes insipidus|C0687720|reduction of neurons in the supraoptic and paraventricular nuclei of the hypothalamus|C4315444|1.0
central diabetes insipidus|C0687720|response to anti-diuretic hormone (adh) or arginine vasopressin|C4315440|1.0
central diabetes insipidus|C0687720|pitressin-susceptible type|C4315443|1.0
central diabetes insipidus|C0687720|central diabetes insipidus|C0687720|1.0
central diabetes insipidus|C0687720|hypokalemia|C0020621|1.0
central diabetes insipidus|C0687720|hydronephrosis|C0020295|1.0
central diabetes insipidus|C0687720|polyuria|C0032617|1.0
central diabetes insipidus|C0687720|also dominant forms|C4315441|1.0
central diabetes insipidus|C0687720|polydipsia|C0085602|1.0
central diabetes insipidus|C0687720|urinary potassium loss|C4315442|1.0
chiari malformation type ii|C0555206|nystagmus|C0028738|1.0
chiari malformation type ii|C0555206|associated with syringomyelia|C2673908|1.0
chiari malformation type ii|C0555206|ataxia|C0004134|1.0
chiari malformation type ii|C0555206|subnormal intelligence|C2673906|1.0
chiari malformation type ii|C0555206|small, thin cerebellum|C2673901|1.0
chiari malformation type ii|C0555206|cervical myelopathy|C0149645|1.0
chiari malformation type ii|C0555206|dysphagia|C0011168|1.0
chiari malformation type ii|C0555206|feeding poor|C0576456|1.0
chiari malformation type ii|C0555206|choking|C0008301|1.0
chiari malformation type ii|C0555206|spasticity|C0026838|1.0
chiari malformation type ii|C0555206|absent cisterna magna|C2673902|1.0
chiari malformation type ii|C0555206|inspiratory stridor|C0677600|1.0
chiari malformation type ii|C0555206|ventricular anomalies|C2673904|1.0
chiari malformation type ii|C0555206|ectopic tissue|C0008519|1.0
chiari malformation type ii|C0555206|expiratory apnea with cyanosis|C3806158|1.0
chiari malformation type ii|C0555206|muscle hypotonia|C0026827|1.0
chiari malformation type ii|C0555206|polygyria|C2673903|1.0
chiari malformation type ii|C0555206|herniation and elongation of the cerebellar tonsils, cerebellar vermis, brainstem, and fourth ventricle through the foramen magnum|C2673900|1.0
chiari malformation type ii|C0555206|symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele|C2673910|1.0
chiari malformation type ii|C0555206|opisthotonus|C0151818|1.0
chiari malformation type ii|C0555206|upper limb weakness|C2678063|1.0
chiari malformation type ii|C0555206|hydrocephalus|C0020255|1.0
chiari malformation type ii|C0555206|bulbar signs|C1856507|1.0
chiari malformation type ii|C0555206|occipital headache|C0231613|1.0
chiari malformation type ii|C0555206|open spina bifida|C2673907|1.0
chiari malformation type ii|C0555206|partial or total agenesis of the corpus callosum|C2673905|1.0
childhood apraxia of speech|C0750927|inability to generate syntactic grammar rules|C1865889|1.0
childhood apraxia of speech|C0750927|phonology deficits|C1865893|1.0
childhood apraxia of speech|C0750927|this specific disorder has been described in 1 family|C1865900|1.0
childhood apraxia of speech|C0750927|defect in morphosyntactic rules|C1865890|1.0
childhood apraxia of speech|C0750927|discrepancy between verbal and nonverbal abilities|C1865888|1.0
childhood apraxia of speech|C0750927|caused by mutation in the forkhead box p2 gene|C1865899|1.0
childhood apraxia of speech|C0750927|articulatory defect|C0454633|1.0
childhood apraxia of speech|C0750927|orofacial dyspraxia, linguistic and nonlinguistic|C1865894|1.0
childhood apraxia of speech|C0750927|structural abnormalities in the basal ganglia|C1865896|1.0
childhood apraxia of speech|C0750927|see also familial developmental dysphasia|C1865902|1.0
childhood apraxia of speech|C0750927|impaired expression of language|C1865892|1.0
childhood apraxia of speech|C0750927|brain imaging shows functional defects in the cortical and subcortical motor-related areas of the frontal lobe|C1865895|1.0
childhood apraxia of speech|C0750927|incomprehensible speech|C1838027|1.0
childhood apraxia of speech|C0750927|decreased nonverbal iq|C1865897|1.0
childhood apraxia of speech|C0750927|language delay|C0023012|1.0
childhood apraxia of speech|C0750927|genetic heterogeneity for phenotypically similar disorders with specific language impairment|C1865901|1.0
childhood apraxia of speech|C0750927|no other neurologic disorder|C1865898|1.0
childhood apraxia of speech|C0750927|impaired processing of language|C1865891|1.0
classical lissencephaly|C0431375|all reported cases have resulted from de novo mutations|C2750935|1.0
classical lissencephaly|C0431375|muscular hypotonia of the trunk|C1853743|1.0
classical lissencephaly|C0431375|developmental delay, severe|C1853567|1.0
classical lissencephaly|C0431375|seizures, refractory|C2676167|1.0
classical lissencephaly|C0431375|dilated ventricles|C3278923|1.0
classical lissencephaly|C0431375|caused by mutation in the platelet-activating factor acetylhydrolase, isoform 1b, alpha subunit gene|C2750934|1.0
classical lissencephaly|C0431375|variable expressivity|C1861403|1.0
classical lissencephaly|C0431375|sleep disorders|C0851578|1.0
classical lissencephaly|C0431375|pachygyria|C0266483|1.0
classical lissencephaly|C0431375|lissencephaly|C2750931|1.0
classical lissencephaly|C0431375|hypoplasia of the brainstem|C1842688|1.0
classical lissencephaly|C0431375|leukoaraiosis|C0948163|1.0
classical lissencephaly|C0431375|autistic features|C1846135|1.0
classical lissencephaly|C0431375|no language development|C2677327|1.0
classical lissencephaly|C0431375|spastic quadriparesis|C0575059|1.0
classical lissencephaly|C0431375|cerebellar hypoplasia|C0266470|1.0
classical lissencephaly|C0431375|abnormality of the corpus callosum|C1842581|1.0
classical lissencephaly|C0431375|mental retardation|C0025362|1.0
classical lissencephaly|C0431375|agyria|C1879312|1.0
classical lissencephaly|C0431375|postnatal microcephaly|C1847514|1.0
classical lissencephaly|C0431375|prominent perivascular spaces|C2750933|1.0
classical lissencephaly|C0431375|subcortical band heterotopia|C1848201|1.0
creutzfeldt-jakob disease|C0022336|pathology includes spongiform changes, diffuse nerve cell degeneration and glial proliferation|C1852472|1.0
creutzfeldt-jakob disease|C0022336|rapidly progressive|C1838681|1.0
creutzfeldt-jakob disease|C0022336|loss of facial expression|C1852476|1.0
creutzfeldt-jakob disease|C0022336|indifference|C0085632|1.0
creutzfeldt-jakob disease|C0022336|patients with variant cjd are homozygous for met129 polymorphism|C1852486|1.0
creutzfeldt-jakob disease|C0022336|mean survival 5 months|C1852482|1.0
creutzfeldt-jakob disease|C0022336|normal cerebrospinal fluid|C1852477|1.0
creutzfeldt-jakob disease|C0022336|personality changes|C0240735|1.0
creutzfeldt-jakob disease|C0022336|hemiparesis|C0018989|1.0
creutzfeldt-jakob disease|C0022336|caused by mutations in the prion protein gene|C1852479|1.0
creutzfeldt-jakob disease|C0022336|psychiatric abnormalities|C1852475|1.0
creutzfeldt-jakob disease|C0022336|three forms of cjd: acquired (including variant), sporadic, and inherited|C1852483|1.0
creutzfeldt-jakob disease|C0022336|characteristic periodic eeg complexes|C1852474|1.0
creutzfeldt-jakob disease|C0022336|memory loss|C0751295|1.0
creutzfeldt-jakob disease|C0022336|supranuclear gaze palsy|C1720037|1.0
creutzfeldt-jakob disease|C0022336|irritable mood|C0022107|1.0
creutzfeldt-jakob disease|C0022336|extrapyramidal muscular rigidity|C1852470|1.0
creutzfeldt-jakob disease|C0022336|myoclonus|C0027066|1.0
creutzfeldt-jakob disease|C0022336|dementia|C0497327|1.0
creutzfeldt-jakob disease|C0022336|confusion|C0009676|1.0
creutzfeldt-jakob disease|C0022336|occasionally mild elevation of csf protein|C1852478|1.0
creutzfeldt-jakob disease|C0022336|hallucinations|C0018524|1.0
creutzfeldt-jakob disease|C0022336|mean age at onset for variant cjd is 29 years|C1852481|1.0
creutzfeldt-jakob disease|C0022336|most case are sporadic|C1865403|1.0
creutzfeldt-jakob disease|C0022336|aphasia|C0003537|1.0
creutzfeldt-jakob disease|C0022336|delusions|C0011253|1.0
creutzfeldt-jakob disease|C0022336|depression|C0011570|1.0
creutzfeldt-jakob disease|C0022336|incidence of all forms of cjd is 0.5 to 1.5 per million per year|C1852484|1.0
creutzfeldt-jakob disease|C0022336|mean age at onset for sporadic cjd is 60 years|C1852480|1.0
creutzfeldt-jakob disease|C0022336|gait ataxia|C0751837|1.0
creutzfeldt-jakob disease|C0022336|15% cases are familial|C1852485|1.0
creutzfeldt-jakob disease|C0022336|diminished visual activity|C1852468|1.0
creutzfeldt-jakob disease|C0022336|brain prp-immunoreactive amyloid plaques|C1852473|1.0
creutzfeldt-jakob disease|C0022336|cerebellar signs|C1852471|1.0
creutzfeldt-jakob disease|C0022336|anxiety|C0003467|1.0
dentatorubral-pallidoluysian atrophy|C0751781|dementia|C0497327|1.0
dentatorubral-pallidoluysian atrophy|C0751781|choreoathetosis|C0085583|1.0
dentatorubral-pallidoluysian atrophy|C0751781|ataxia|C0007758|1.0
dentatorubral-pallidoluysian atrophy|C0751781|anticipation, genetic|C0600498|1.0
dentatorubral-pallidoluysian atrophy|C0751781|seizures|C0036572|1.0
dentatorubral-pallidoluysian atrophy|C0751781|myoclonus|C0027066|1.0
dentatorubral-pallidoluysian atrophy|C0751781|phenotypic heterogeneity|C1852220|1.0
dentatorubral-pallidoluysian atrophy|C0751781|mean age of onset 30 years|C1852219|1.0
dentatorubral-pallidoluysian atrophy|C0751781|degeneration of the dentatorubral and pallidoluysian systems|C1852217|1.0
dentatorubral-pallidoluysian atrophy|C0751781|caused by trinucleotide repeat expansion (cag)n in the drpla gene|C2675728|1.0
early myoclonic encephalopathy|C0270855|progressive microcephaly|C1850456|1.0
early myoclonic encephalopathy|C0270855|clonic seizure|C0234535|1.0
early myoclonic encephalopathy|C0270855|early death|C1836407|1.0
early myoclonic encephalopathy|C0270855|evolution to severe encephalopathy|C1836404|1.0
early myoclonic encephalopathy|C0270855|abnormal visual evoked potential|C1859869|1.0
early myoclonic encephalopathy|C0270855|severe phenotype|C1836408|1.0
early myoclonic encephalopathy|C0270855|onset in first hours to days of life|C1836406|1.0
early myoclonic encephalopathy|C0270855|eeg shows burst suppression|C1836403|1.0
early myoclonic encephalopathy|C0270855|delayed myelination|C1277241|1.0
early myoclonic encephalopathy|C0270855|brain atrophy|C0235946|1.0
early myoclonic encephalopathy|C0270855|migrating partial seizures|C4013260|1.0
early myoclonic encephalopathy|C0270855|myoclonic seizure, refractory|C1836402|1.0
early myoclonic encephalopathy|C0270855|neonatal hypotonia|C2267233|1.0
early myoclonic encephalopathy|C0270855|caused by mutation in the solute carrier family 25 (mitochondrial carrier, glutamate), member 22 gene|C1836405|1.0
early myoclonic encephalopathy|C0270855|spasticity|C0026838|1.0
face blindness|C2931455|inability to recognize someone familiar by the face alone|C3552302|1.0
foxg1 syndrome|C3150705|bruxism|C0006325|1.0
foxg1 syndrome|C3150705|reduced white matter volume|C3278845|1.0
foxg1 syndrome|C3150705|severe mental retardation|C0036857|1.0
foxg1 syndrome|C3150705|seizure onset after 3 months|C3278850|1.0
foxg1 syndrome|C3150705|genu valgu|C3278847|1.0
foxg1 syndrome|C3150705|lack of speech development|C2675215|1.0
foxg1 syndrome|C3150705|flatfoot|C0016202|1.0
foxg1 syndrome|C3150705|dystonia|C0393593|1.0
foxg1 syndrome|C3150705|tongue thrusting|C1829460|1.0
foxg1 syndrome|C3150705|chorea|C0008489|1.0
foxg1 syndrome|C3150705|slow postnatal growth|C3278846|1.0
foxg1 syndrome|C3150705|neonatal irritability|C3278841|1.0
foxg1 syndrome|C3150705|jerky limb movements|C3278843|1.0
foxg1 syndrome|C3150705|neonatal unresponsiveness|C4478922|1.0
foxg1 syndrome|C3150705|delayed myelination|C1277241|1.0
foxg1 syndrome|C3150705|abnormal sleep pattern|C1849174|1.0
foxg1 syndrome|C3150705|neonatal hypotonia|C2267233|1.0
foxg1 syndrome|C3150705|dyskinesia|C0013384|1.0
foxg1 syndrome|C3150705|most patients do not learn to sit or walk|C3278849|1.0
foxg1 syndrome|C3150705|onset in first months of life|C1836045|1.0
foxg1 syndrome|C3150705|scoliosis, unspecified|C0036439|1.0
foxg1 syndrome|C3150705|cortical gyral simplification|C2749675|1.0
foxg1 syndrome|C3150705|motor delay|C1854301|1.0
foxg1 syndrome|C3150705|spasticity|C0026838|1.0
foxg1 syndrome|C3150705|apraxia|C0003635|1.0
foxg1 syndrome|C3150705|progressive microcephaly|C1850456|1.0
foxg1 syndrome|C3150705|constipation|C0009806|1.0
foxg1 syndrome|C3150705|normal birth|C3665337|1.0
foxg1 syndrome|C3150705|all reported cases have occurred de novo|C3276368|1.0
foxg1 syndrome|C3150705|impaired social interaction|C0150080|1.0
foxg1 syndrome|C3150705|eeg shows with a multifocal pattern with spikes and sharp waves|C3278844|1.0
foxg1 syndrome|C3150705|pachygyria|C0266483|1.0
foxg1 syndrome|C3150705|abnormal breathing patterns|C3806247|1.0
foxg1 syndrome|C3150705|stereotypic movements|C1853236|1.0
foxg1 syndrome|C3150705|caused by mutation in the forkhead box g1 gene|C3278848|1.0
foxg1 syndrome|C3150705|thin corpus callosum|C0344482|1.0
foxg1 syndrome|C3150705|gastroesophageal reflux|C0017168|1.0
foxg1 syndrome|C3150705|developmental regression before age 6 months|C3278842|1.0
foxg1 syndrome|C3150705|seizures|C0036572|1.0
foxg1 syndrome|C3150705|clubfoot|C0009081|1.0
foxg1 syndrome|C3150705|athetosis|C0004158|1.0
foxg1 syndrome|C3150705|poor eye contact|C1445953|1.0
foxg1 syndrome|C3150705|electroencephalogram abnormal|C0151611|1.0
foxg1 syndrome|C3150705|sialorrhea|C0037036|1.0
foxg1 syndrome|C3150705|kyphosis deformity of spine|C0022821|1.0
frontotemporal dementia|C0236642|frontotemporal dementia|C0338451|1.0
frontotemporal dementia|C0236642|hyperorality|C1838320|1.0
frontotemporal dementia|C0236642|indifference|C0085632|1.0
frontotemporal dementia|C0236642|primitive reflexes|C1838319|1.0
frontotemporal dementia|C0236642|language impairment|C0023015|1.0
frontotemporal dementia|C0236642|phenotypic overlap with frontotemporal dementia|C1832772|1.0
frontotemporal dementia|C0236642|personality changes|C0240735|1.0
frontotemporal dementia|C0236642|emotional blunting|C0233469|1.0
frontotemporal dementia|C0236642|caused by mutation in the microtubule-associated tau protein gene|C1868319|1.0
frontotemporal dementia|C0236642|inappropriate laughter|C0424304|1.0
frontotemporal dementia|C0236642|atrophy may be more severe in the left hemisphere|C1868313|1.0
frontotemporal dementia|C0236642|irritable mood|C0022107|1.0
frontotemporal dementia|C0236642|astrocytosis|C3887640|1.0
frontotemporal dementia|C0236642|echolalia|C0013528|1.0
frontotemporal dementia|C0236642|stereotyped behavior|C0038271|1.0
frontotemporal dementia|C0236642|pick bodies found in neocortical layers, granule cells of the dentate gyrus, and throughout the hippocampus|C1868316|1.0
frontotemporal dementia|C0236642|disinhibition|C0424296|1.0
frontotemporal dementia|C0236642|argyrophilic hyperphosphorylated tau-positive inclusions|C1868314|1.0
frontotemporal dementia|C0236642|hyperphagia|C0020505|1.0
frontotemporal dementia|C0236642|perseverative behavior|C0233651|1.0
frontotemporal dementia|C0236642|neuronal loss in central nervous system|C1850496|1.0
frontotemporal dementia|C0236642|caused by mutation in the presenilin-1 gene|C1868320|1.0
frontotemporal dementia|C0236642|frontotemporal lobar atrophy with 'knife-edge' distinction|C1868312|1.0
frontotemporal dementia|C0236642|swollen achromatic cells|C1868315|1.0
frontotemporal dementia|C0236642|loss of motivation|C0456814|1.0
frontotemporal dementia|C0338451|loss of motivation|C0456814|1.0
frontotemporal dementia|C0338451|hyperorality|C1838320|1.0
frontotemporal dementia|C0338451|motor symptoms may be present|C1838315|1.0
frontotemporal dementia|C0338451|indifference|C0085632|1.0
frontotemporal dementia|C0338451|primitive reflexes|C1838319|1.0
frontotemporal dementia|C0338451|tau-positive inclusions may be found|C1838317|1.0
frontotemporal dementia|C0338451|genetic heterogeneity|C1838325|1.0
frontotemporal dementia|C0338451|language impairment|C0023015|1.0
frontotemporal dementia|C0338451|personality changes|C0240735|1.0
frontotemporal dementia|C0338451|amyotrophic lateral sclerosis|C0002736|1.0
frontotemporal dementia|C0338451|word-finding difficulties|C0454643|1.0
frontotemporal dementia|C0338451|frontal lobe dementia|C0338455|1.0
frontotemporal dementia|C0338451|caused by mutation in the microtubule-associated tau protein gene|C1838321|1.0
frontotemporal dementia|C0338451|inappropriate laughter|C0424304|1.0
frontotemporal dementia|C0338451|irritable mood|C0022107|1.0
frontotemporal dementia|C0338451|inappropriate sexual behavior|C0474420|1.0
frontotemporal dementia|C0338451|decrease in abstract thinking|C1838314|1.0
frontotemporal dementia|C0338451|disinhibition|C0424296|1.0
frontotemporal dementia|C0338451|caused by mutation in the presenilin-1 gene|C1838322|1.0
frontotemporal dementia|C0338451|kluver-bucy syndrome|C0270707|1.0
frontotemporal dementia|C0338451|mean age at onset 45 years|C1838323|1.0
frontotemporal dementia|C0338451|hyperphagia|C0020505|1.0
frontotemporal dementia|C0338451|most cases do not have mutations in the mapt gene, but map to chromosome 17q|C1838326|1.0
frontotemporal dementia|C0338451|highly variable phenotype that includes several subtypes|C3152007|1.0
frontotemporal dementia|C0338451|ubiquitin-positive inclusions|C1838318|1.0
frontotemporal dementia|C0338451|parkinsonism|C0242422|1.0
frontotemporal dementia|C0338451|cortical and subcortical neuronal loss in the frontal and temporal regions|C1838316|1.0
hyperlexia|C1855928|autism|C0004352|1.0
hyperlexia|C1855928|onset before age 5 years in the absence of instruction|C1855938|1.0
hyperlexia|C1855928|functional mri (fmri) shows increased activity in the left inferior frontal cortex|C1855935|1.0
hyperlexia|C1855928|autism spectrum disorder|C0524528|1.0
hyperlexia|C1855928|reading at level beyond mental age|C1855931|1.0
hyperlexia|C1855928|hyperlexia|C1855928|1.0
hyperlexia|C1855928|advanced word recognition|C1855932|1.0
hyperlexia|C1855928|increased activity in the left posterior superior temporal cortex|C1855936|1.0
hyperlexia|C1855928|reading comprehension on par with verbal abilities|C1855934|1.0
hyperlexia|C1855928|increased activity in the right inferior temporal cortex|C1855937|1.0
hyperlexia|C1855928|increased phonologic processing|C1855933|1.0
hyperlexia|C1855928|developmental communication disorder|C0751050|1.0
hyperprolactinemia|C0020514|increased prolactin level|C0747979|1.0
hyperprolactinemia|C0020514|infertility|C3809921|1.0
hyperprolactinemia|C0020514|menorrhagia|C3809922|1.0
hyperprolactinemia|C0020514|galactorrhea|C3809923|1.0
hyperprolactinemia|C0020514|oligomenorrhea|C3806213|1.0
hyperprolactinemia|C0020514|caused by mutation in the prolactin receptor gene|C3809924|1.0
idiopathic generalized epilepsy|C0270850|eeg shows spike and multispike waves, 3-4 hz|C1833490|1.0
idiopathic generalized epilepsy|C0270850|juvenile absence epilepsy|C1833495|1.0
idiopathic generalized epilepsy|C0270850|tonic-clonic seizure|C0494475|1.0
idiopathic generalized epilepsy|C0270850|infrequent generalized seizures|C1833488|1.0
idiopathic generalized epilepsy|C0270850|comprises several subtypes, including|C1833492|1.0
idiopathic generalized epilepsy|C0270850|eeg shows generalized, bilateral, synchronous, symmetrical discharge|C1833489|1.0
idiopathic generalized epilepsy|C0270850|juvenile myoclonic epilepsy|C3152042|1.0
idiopathic generalized epilepsy|C0270850|susceptibility conferred by 9-snp haplotype in malic enzyme 2|C1833491|1.0
idiopathic generalized epilepsy|C0270850|epilepsy with grand mal seizures on awakening|C1833497|1.0
idiopathic generalized epilepsy|C0270850|benign neonatal familial convulsions|C1833493|1.0
idiopathic generalized epilepsy|C0270850|absence seizure|C4316903|1.0
idiopathic generalized epilepsy|C0270850|myoclonic seizure|C4317123|1.0
idiopathic generalized epilepsy|C0270850|childhood absence epilepsy|C1833494|1.0
idiopathic generalized epilepsy|C0270850|homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige|C1833498|1.0
juvenile myoclonic epilepsy|C0270853|approximately one-third of patients become seizure-free with age|C3278525|1.0
juvenile myoclonic epilepsy|C0270853|photosensitivity in one-third of patients|C1847166|1.0
juvenile myoclonic epilepsy|C0270853|tonic-clonic seizure|C0494475|1.0
juvenile myoclonic epilepsy|C0270853|susceptibility conferred by mutation in the ef-hand domain (c-terminal)-containing protein 1 gene|C3278521|1.0
juvenile myoclonic epilepsy|C0270853|status epilepticus may occur|C3278520|1.0
juvenile myoclonic epilepsy|C0270853|absence seizure|C4316903|1.0
juvenile myoclonic epilepsy|C0270853|seizures precipitated by fatigue or alcohol|C3278524|1.0
juvenile myoclonic epilepsy|C0270853|mean age at onset is 10.4 years|C3278522|1.0
juvenile myoclonic epilepsy|C0270853|myoclonus|C0027066|1.0
juvenile myoclonic epilepsy|C0270853|average intellect|C0423900|1.0
juvenile myoclonic epilepsy|C0270853|seizures tend to occur upon awakening|C3278523|1.0
juvenile myoclonic epilepsy|C0270853|3-6 hz polyspike eeg|C2750889|1.0
korsakoff syndrome|C0349464|korsakoff syndrome|C0349464|1.0
korsakoff syndrome|C0349464|confusion|C0009676|1.0
korsakoff syndrome|C0349464|ocular muscle abnormalities|C1848464|1.0
korsakoff syndrome|C0349464|coma|C3550747|1.0
korsakoff syndrome|C0349464|memory impairment|C0233794|1.0
korsakoff syndrome|C0349464|abducens nerve palsy|C0271355|1.0
korsakoff syndrome|C0349464|agitated delirium|C1848465|1.0
korsakoff syndrome|C0349464|polyneuropathy|C0152025|1.0
korsakoff syndrome|C0349464|ataxia|C0004134|1.0
korsakoff syndrome|C0349464|disorientation|C0233407|1.0
korsakoff syndrome|C0349464|ophthalmoplegia|C0029089|1.0
korsakoff syndrome|C0349464|horizontal nystagmus|C0271385|1.0
korsakoff syndrome|C0349464|stupor|C0085628|1.0
korsakoff syndrome|C0349464|ptosis|C1848468|1.0
mecp2 duplication syndrome|C1846058|bruxism|C0006325|1.0
mecp2 duplication syndrome|C1846058|depressed nasal bridge|C1836542|1.0
mecp2 duplication syndrome|C1846058|limited facial expression|C3151702|1.0
mecp2 duplication syndrome|C1846058|spasticity, progressive, develops in childhood|C2678183|1.0
mecp2 duplication syndrome|C1846058|compulsions|C0600104|1.0
mecp2 duplication syndrome|C1846058|female carriers are unaffected or show neuropsychiatric features|C3151703|1.0
mecp2 duplication syndrome|C1846058|chorea|C0008489|1.0
mecp2 duplication syndrome|C1846058|ataxia|C0004134|1.0
mecp2 duplication syndrome|C1846058|loss of purposeful hand movements|C2678185|1.0
mecp2 duplication syndrome|C1846058|no growth retardation|C2678186|1.0
mecp2 duplication syndrome|C1846058|progressive disorder|C1864985|1.0
mecp2 duplication syndrome|C1846058|rigidity|C0026837|1.0
mecp2 duplication syndrome|C1846058|sleep disorders|C0037317|1.0
mecp2 duplication syndrome|C1846058|neonatal hypotonia|C0270971|1.0
mecp2 duplication syndrome|C1846058|stereotypic hand movements|C2678184|1.0
mecp2 duplication syndrome|C1846058|large auricle|C0554972|1.0
mecp2 duplication syndrome|C1846058|dysphagia|C0011168|1.0
mecp2 duplication syndrome|C1846058|female carriers show markedly skewed x inactivation|C2678187|1.0
mecp2 duplication syndrome|C1846058|recurrent respiratory infections|C3806482|1.0
mecp2 duplication syndrome|C1846058|drooling|C0013132|1.0
mecp2 duplication syndrome|C1846058|allelic to rett syndrome|C2678190|1.0
mecp2 duplication syndrome|C1846058|constipation|C0009806|1.0
mecp2 duplication syndrome|C1846058|macrocephaly|C0221355|1.0
mecp2 duplication syndrome|C1846058|hostility|C0020039|1.0
mecp2 duplication syndrome|C1846058|asymmetrical skull|C0424690|1.0
mecp2 duplication syndrome|C1846058|caused by duplication of the methyl-cp6-binding protein 2 gene|C2678188|1.0
mecp2 duplication syndrome|C1846058|malar flattening|C1858085|1.0
mecp2 duplication syndrome|C1846058|tented upper lip|C1850072|1.0
mecp2 duplication syndrome|C1846058|depression|C0011570|1.0
mecp2 duplication syndrome|C1846058|absent speech|C1854882|1.0
mecp2 duplication syndrome|C1846058|abnormal breathing patterns|C3806247|1.0
mecp2 duplication syndrome|C1846058|microstomia|C0026034|1.0
mecp2 duplication syndrome|C1846058|cryptorchidism|C0010417|1.0
mecp2 duplication syndrome|C1846058|autistic features|C1846135|1.0
mecp2 duplication syndrome|C1846058|facial hypotonia|C1845251|1.0
mecp2 duplication syndrome|C1846058|gastroesophageal reflux|C0017168|1.0
mecp2 duplication syndrome|C1846058|psychoticism|C0687131|1.0
mecp2 duplication syndrome|C1846058|low-set ears|C0239234|1.0
mecp2 duplication syndrome|C1846058|anxiety|C0003467|1.0
mecp2 duplication syndrome|C1846058|loss of any acquired abilities in early childhood|C2678182|1.0
mecp2 duplication syndrome|C1846058|seizures|C0036572|1.0
mecp2 duplication syndrome|C1846058|severe psychomotor retardation from birth|C2678180|1.0
mecp2 duplication syndrome|C1846058|poor eye contact|C1445953|1.0
mecp2 duplication syndrome|C1846058|small head|C0424688|1.0
mecp2 duplication syndrome|C1846058|sialorrhea|C0037036|1.0
mecp2 duplication syndrome|C1846058|brachycephaly|C0221356|1.0
medulloblastoma|C0025149|incomplete penetrance|C1836598|1.0
medulloblastoma|C0025149|isochromosome 17q frequent in cytogenetic studies|C4315918|1.0
medulloblastoma|C0025149|caused by mutation in the brca2 gene|C1860281|1.0
medulloblastoma|C0025149|caused by mutation in the suppressor of fused gene|C4315916|1.0
medulloblastoma|C0025149|caused by somatic mutation in the catenin beta 1 gene|C4312997|1.0
medulloblastoma|C0025149|medulloblastoma|C0025149|1.0
medulloblastoma|C0025149|caused by somatic mutation in the homolog of drosophila patched 2 gene|C4315915|1.0
medulloblastoma|C0025149|loss of heterozygosity for 17p sequences in 45% of medulloblastomas|C4315917|1.0
mental retardation, autosomal dominant 45|C4539848|seizures|C2749939|1.0
mental retardation, autosomal dominant 45|C4539848|developmental delay|C0557874|1.0
mental retardation, autosomal dominant 45|C4539848|muscle hypotonia|C0026827|1.0
mental retardation, autosomal dominant 45|C4539848|learning difficulties|C0424939|1.0
mental retardation, autosomal dominant 45|C4539848|variable expressivity|C1861403|1.0
mental retardation, autosomal dominant 45|C4539848|mental retardation|C3714756|1.0
mental retardation, autosomal dominant 45|C4539848|hyperactivity|C0424295|1.0
mental retardation, autosomal dominant 45|C4539848|autistic features|C1846135|1.0
mental retardation, autosomal dominant 45|C4539848|de novo mutation|C2985439|1.0
mental retardation, autosomal dominant 45|C4539848|attention deficit disorder|C0041671|1.0
mental retardation, autosomal dominant 45|C4539848|poor speech|C1848207|1.0
mental retardation, autosomal dominant 45|C4539848|developmental regression|C1836830|1.0
mental retardation, autosomal dominant 45|C4539848|caused by mutation in the capicua, drosophila, homolog of, gene|C4539850|1.0
mental retardation, autosomal dominant 45|C4539848|nonspecific white matter abnormalities seen on brain imaging|C4539849|1.0
mental retardation, x-linked, syndromic 34|C4225417|shy, gentle, cheerful demeanor|C4478359|1.0
mental retardation, x-linked, syndromic 34|C4225417|hallux valgus|C0018536|1.0
mental retardation, x-linked, syndromic 34|C4225417|slender build|C1850573|1.0
mental retardation, x-linked, syndromic 34|C4225417|thickened calvaria|C1858452|1.0
mental retardation, x-linked, syndromic 34|C4225417|large nose|C0426415|1.0
mental retardation, x-linked, syndromic 34|C4225417|no language|C3551521|1.0
mental retardation, x-linked, syndromic 34|C4225417|ankylosis of the metacarpophalangeal joint of p1|C4230831|1.0
mental retardation, x-linked, syndromic 34|C4225417|mental retardation|C3714756|1.0
mental retardation, x-linked, syndromic 34|C4225417|wide mouth|C3550635|1.0
mental retardation, x-linked, syndromic 34|C4225417|caused by mutation in the non-pou domain-containing octamer-binding protein gene|C4230830|1.0
mental retardation, x-linked, syndromic 34|C4225417|ventricular septal defect|C0018818|1.0
mental retardation, x-linked, syndromic 34|C4225417|ductus arteriosus|C0013274|1.0
mental retardation, x-linked, syndromic 34|C4225417|seizures|C2749200|1.0
mental retardation, x-linked, syndromic 34|C4225417|right ventricular hypertrophy|C0162770|1.0
mental retardation, x-linked, syndromic 34|C4225417|scoliosis, unspecified|C0036439|1.0
mental retardation, x-linked, syndromic 34|C4225417|cerebellar hypoplasia|C3553662|1.0
mental retardation, x-linked, syndromic 34|C4225417|left ventricular noncompaction|C1960469|1.0
mental retardation, x-linked, syndromic 34|C4225417|strabismus|C0038379|1.0
mental retardation, x-linked, syndromic 34|C4225417|cryptorchidism|C3276764|1.0
mental retardation, x-linked, syndromic 34|C4225417|patent foramen ovale|C0016522|1.0
mental retardation, x-linked, syndromic 34|C4225417|high, narrow palate|C1837404|1.0
mental retardation, x-linked, syndromic 34|C4225417|dysgenesis of the corpus callosum|C0431369|1.0
mental retardation, x-linked, syndromic 34|C4225417|high nasal root|C2675885|1.0
mental retardation, x-linked, syndromic 34|C4225417|microstomia|C0026034|1.0
mental retardation, x-linked, syndromic 34|C4225417|upward slant of palpebral fissure|C0423109|1.0
mental retardation, x-linked, syndromic 34|C4225417|tooth crowding|C0040433|1.0
mental retardation, x-linked, syndromic 34|C4225417|widely spaced teeth|C4478362|1.0
mental retardation, x-linked, syndromic 34|C4225417|long face|C1836047|1.0
mental retardation, x-linked, syndromic 34|C4225417|delayed puberty|C4013827|1.0
mental retardation, x-linked, syndromic 34|C4225417|three unrelated males have been reported|C4230829|1.0
mental retardation, x-linked, syndromic 34|C4225417|anxious demeanor|C4478360|1.0
mental retardation, x-linked, syndromic 34|C4225417|frontal bossing|C0221354|1.0
mental retardation, x-linked, syndromic 34|C4225417|atrial septal defect|C0018817|1.0
mental retardation, x-linked, syndromic 34|C4225417|developmental delay|C0557874|1.0
mental retardation, x-linked, syndromic 34|C4225417|flatfoot|C0016202|1.0
mental retardation, x-linked, syndromic 34|C4225417|thick corpus callosum|C1835194|1.0
mental retardation, x-linked, syndromic 34|C4225417|gastroesophageal reflux|C3554731|1.0
mental retardation, x-linked, syndromic 34|C4225417|aggressive behavior|C3550976|1.0
mental retardation, x-linked, syndromic 34|C4225417|neonatal hypotonia|C2267233|1.0
mental retardation, x-linked, syndromic 34|C4225417|nasal voice|C0566620|1.0
mental retardation, x-linked, syndromic 34|C4225417|open mouth|C0240379|1.0
mental retardation, x-linked, syndromic 34|C4225417|poor language|C3810456|1.0
mental retardation, x-linked, syndromic 34|C4225417|thin nasal root|C4230833|1.0
mental retardation, x-linked, syndromic 34|C4225417|macrocephaly, relative or absolute|C4478361|1.0
mental retardation, x-linked, syndromic 34|C4225417|deviated nasal septum|C4230832|1.0
mental retardation, x-linked, syndromic 34|C4225417|malar flattening|C1858085|1.0
mental retardation, x-linked, syndromic 34|C4225417|myopia|C0027092|1.0
mental retardation, x-linked, syndromic 34|C4225417|poor suck in infancy|C1857549|1.0
mental retardation, x-linked, syndromic 34|C4225417|kyphosis deformity of spine|C0022821|1.0
myasthenia gravis|C0026896|difficulty chewing|C0239043|1.0
myasthenia gravis|C0026896|diplopia|C0012569|1.0
myasthenia gravis|C0026896|dysphagia|C0011168|1.0
myasthenia gravis|C0026896|dysarthria|C0013362|1.0
myasthenia gravis|C0026896|facial weakness|C0427055|1.0
myasthenia gravis|C0026896|ptosis|C0005745|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|episodes begin with muscle tightening|C1861562|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|clonazepam and diazepam may be effective in preventing or lessening severity|C1861568|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|myokymia|C0684219|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|episodes may last less than 30 minutes or greater than several hours|C1861563|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|involuntary movements of extremities, neck, trunk, and/or face|C1861561|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|facial grimacing|C0234853|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation|C1861566|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|caused by mutation in the myofibrillogenesis regulator 1 gene|C1861565|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|paroxysmal choreoathetosis|C1851936|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|torticollis|C0040485|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|paroxysmal dystonia|C0393588|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|dysphagia|C0011168|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|frequency and severity of symptoms do not worsen with age|C1861567|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|dysarthria|C0013362|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|onset in infancy or childhood|C1853128|1.0
paroxysmal kinesigenic choreoathetosis|C1869117|episodes typically occur several times a week|C1861564|1.0
pelizaeus-merzbacher disease|C0205711|nystagmus may disappear by mid-childhood|C1839450|1.0
pelizaeus-merzbacher disease|C0205711|slow progression|C1854494|1.0
pelizaeus-merzbacher disease|C0205711|dystonia|C0393593|1.0
pelizaeus-merzbacher disease|C0205711|ataxia|C0004134|1.0
pelizaeus-merzbacher disease|C0205711|motor retardation|C0424230|1.0
pelizaeus-merzbacher disease|C0205711|infantile onset|C1848924|1.0
pelizaeus-merzbacher disease|C0205711|choreoathetosis|C0085583|1.0
pelizaeus-merzbacher disease|C0205711|mental retardation|C0025362|1.0
pelizaeus-merzbacher disease|C0205711|connatal form (type ii), most severe with death in first decade|C1839451|1.0
pelizaeus-merzbacher disease|C0205711|diffuse white matter hyperintensities on t2-weighed imaging|C3275640|1.0
pelizaeus-merzbacher disease|C0205711|spasticity|C0026838|1.0
pelizaeus-merzbacher disease|C0205711|lack of psychomotor development|C1839444|1.0
pelizaeus-merzbacher disease|C0205711|scanning speech|C0278184|1.0
pelizaeus-merzbacher disease|C0205711|rotary head movements|C1839442|1.0
pelizaeus-merzbacher disease|C0205711|classical form (type i), less severe with survival into adulthood|C1839452|1.0
pelizaeus-merzbacher disease|C0205711|muscle hypotonia|C0026827|1.0
pelizaeus-merzbacher disease|C0205711|hearing impairment may occur|C3275642|1.0
pelizaeus-merzbacher disease|C0205711|absent myelination of the brain|C1839447|1.0
pelizaeus-merzbacher disease|C0205711|spastic paraplegia 2 (spg2, 312920) is an allelic disorder|C1839453|1.0
pelizaeus-merzbacher disease|C0205711|caused by mutation in the proteolipid protein 1 gene|C3275643|1.0
pelizaeus-merzbacher disease|C0205711|dysmyelination of the brain, myelin is not formed properly|C1839446|1.0
pelizaeus-merzbacher disease|C0205711|hyporeflexia|C0151888|1.0
pelizaeus-merzbacher disease|C0205711|stridor|C0038450|1.0
pelizaeus-merzbacher disease|C0205711|progressive pyramidal and cerebellar signs|C1839443|1.0
pelizaeus-merzbacher disease|C0205711|psychomotor deterioration|C1839445|1.0
pelizaeus-merzbacher disease|C0205711|dysarthria|C0013362|1.0
pelizaeus-merzbacher disease|C0205711|hearing impairment may improve with age|C3275644|1.0
pelizaeus-merzbacher disease|C0205711|seizures|C0036572|1.0
pelizaeus-merzbacher disease|C0205711|decreased or absent brainstem auditory evoked potentials (baep) of waves iii-v|C3275641|1.0
pelizaeus-merzbacher disease|C0205711|small head|C0424688|1.0
pelizaeus-merzbacher disease|C0205711|developmental delay|C0424605|1.0
pelizaeus-merzbacher disease|C0205711|rotatory nystagmus|C0240595|1.0
pelizaeus-merzbacher disease|C0205711|optic atrophy|C0029124|1.0
periodic catatonia|C0543918|diminished incentive|C1854295|1.0
periodic catatonia|C0543918|hallucinations|C0018524|1.0
periodic catatonia|C0543918|undifferentiated schizophrenia|C0392322|1.0
periodic catatonia|C0543918|delusions|C0011253|1.0
periodic catatonia|C0543918|iterations|C1854293|1.0
periodic catatonia|C0543918|stuporous catatonia|C1854291|1.0
periodic catatonia|C0543918|mask-like facies|C0424448|1.0
periodic catatonia|C0543918|parakinesis|C1854294|1.0
periodic catatonia|C0543918|excited catatonia|C1854292|1.0
periodic catatonia|C0543918|grimaces|C0239779|1.0
periodic catatonia|C0543918|psychotic episode|C0338614|1.0
periodic catatonia|C0543918|derangements of facial expression|C1854297|1.0
periodic catatonia|C0543918|psychomotor disturbances during acute psychotic outbursts|C1854296|1.0
peutz-jeghers syndrome|C0031269|hyperpigmented macules of lips|C1868012|1.0
peutz-jeghers syndrome|C0031269|spots occur in 95% of patients but can be absent|C1868018|1.0
peutz-jeghers syndrome|C0031269|hamartomatous polyps|C1868010|1.0
peutz-jeghers syndrome|C0031269|intussusception|C0021933|1.0
peutz-jeghers syndrome|C0031269|uterine cancer|C0153567|1.0
peutz-jeghers syndrome|C0031269|sertoli cell tumor of the testis|C0349671|1.0
peutz-jeghers syndrome|C0031269|clubbed fingers|C0009080|1.0
peutz-jeghers syndrome|C0031269|gastrointestinal carcinoma|C0151544|1.0
peutz-jeghers syndrome|C0031269|caused by mutations in the serine/threonine protein kinase 11 gene|C1868016|1.0
peutz-jeghers syndrome|C0031269|thyroid cancer|C0549473|1.0
peutz-jeghers syndrome|C0031269|ureteral polyp|C0346269|1.0
peutz-jeghers syndrome|C0031269|nasal polyp|C0027430|1.0
peutz-jeghers syndrome|C0031269|hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips|C1868015|1.0
peutz-jeghers syndrome|C0031269|recurrent colicky abdominal pain|C1868011|1.0
peutz-jeghers syndrome|C0031269|gynecomastia with sertoli cell tumors|C1868008|1.0
peutz-jeghers syndrome|C0031269|intestinal bleeding|C0267373|1.0
peutz-jeghers syndrome|C0031269|iron deficiency|C0162316|1.0
peutz-jeghers syndrome|C0031269|bladder polyp|C0586737|1.0
peutz-jeghers syndrome|C0031269|ovarian sex cord-stromal tumor|C0600113|1.0
peutz-jeghers syndrome|C0031269|pigmented spots appear in infancy through childhood and fade in adulthood|C1868017|1.0
peutz-jeghers syndrome|C0031269|ductal adenocarcinoma|C1527349|1.0
peutz-jeghers syndrome|C0031269|bronchial polyp|C1112360|1.0
peutz-jeghers syndrome|C0031269|hyperpigmented macules of buccal mucosa|C1868013|1.0
peutz-jeghers syndrome|C0031269|biliary tract polyps|C1868009|1.0
peutz-jeghers syndrome|C0031269|pancreatic cancer|C0346647|1.0
peutz-jeghers syndrome|C0031269|rectal prolapse|C0034888|1.0
peutz-jeghers syndrome|C0031269|ovarian cysts|C0029927|1.0
peutz-jeghers syndrome|C0031269|lung|C0024109|1.0
peutz-jeghers syndrome|C0031269|precocious puberty with sertoli cell tumor|C1868007|1.0
rasmussen syndrome|C1876181|dysplastic dental enamel|C4231543|1.0
rasmussen syndrome|C1876181|bilateral foot anomalies|C4231547|1.0
rasmussen syndrome|C1876181|atresia of the external auditory canal|C1866190|1.0
rasmussen syndrome|C1876181|palpebronasal fold|C0229249|1.0
rasmussen syndrome|C1876181|based on reports of one family and one patient|C4231546|1.0
rasmussen syndrome|C1876181|increased interocular distance|C4231545|1.0
rasmussen syndrome|C1876181|low-set nasal bridge|C4231544|1.0
rasmussen syndrome|C1876181|infantile exotropia|C1282374|1.0
rasmussen syndrome|C1876181|vertical talus|C0240912|1.0
rasmussen syndrome|C1876181|bilateral single transverse palmar creases|C1862095|1.0
rasmussen syndrome|C1876181|short fifth finger|C1842878|1.0
rasmussen syndrome|C1876181|pyloric stenosis|C0034194|1.0
rasmussen syndrome|C1876181|conductive hearing loss|C0018777|1.0
rasmussen syndrome|C1876181|hypoplasia of the alae nasi, mild|C4227361|1.0
rasmussen syndrome|C1876181|hip dysplasia|C0019555|1.0
schizophrenia|C0036341|multiple gene loci involved in causation of schizophrenia|C1866992|1.0
schizophrenia|C0036341|onset often in late adolescence|C1866990|1.0
schizophrenia|C0036341|hallucinations|C0018524|1.0
schizophrenia|C0036341|symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis|C1866991|1.0
schizophrenia|C0036341|abnormal eeg in 25% hospitalized patients|C1866989|1.0
schizophrenia|C0036341|schizophrenia|C0036341|1.0
schizophrenia|C0036341|delusions|C0011253|1.0
schizophrenia|C0036341|catatonic behavior|C1866988|1.0
schizophrenia|C0036341|disorganised speech|C1866987|1.0
schizophrenia|C0036341|genetic heterogeneity|C0242960|1.0
schizophrenia|C0036341|social and occupational deterioration|C1866986|1.0
stammering|C3489627|stuttering, persistent|C4231343|1.0
stammering|C3489627|onset between ages 2 and 5 years|C4231341|1.0
stammering|C3489627|exacerbated by stress|C4231340|1.0
stammering|C3489627|caused by mutation in the adaptor-related protein complex 4, epsilon-1 subunit gene|C4231342|1.0
stammering|C3489627|improvement with age|C2751135|1.0
tay-sachs disease|C0039373|dementia|C0497327|1.0
tay-sachs disease|C0039373|ballooned neurons|C1848921|1.0
tay-sachs disease|C0039373|tay-sachs disease|C0039373|1.0
tay-sachs disease|C0039373|indifference|C0085632|1.0
tay-sachs disease|C0039373|gm2-ganglioside accumulation|C1848920|1.0
tay-sachs disease|C0039373|muscle hypotonia|C0026827|1.0
tay-sachs disease|C0039373|incidence of 1 in 3,900 births among jewish persons|C2749284|1.0
tay-sachs disease|C0039373|blindness|C0456909|1.0
tay-sachs disease|C0039373|hypertonia late|C1855482|1.0
tay-sachs disease|C0039373|actual aspiration|C2712334|1.0
tay-sachs disease|C0039373|caused by mutations in the hexosaminidase a, alpha polypeptide gene|C1848923|1.0
tay-sachs disease|C0039373|poor head control|C1836038|1.0
tay-sachs disease|C0039373|usually fatal by age 5 years|C1848925|1.0
tay-sachs disease|C0039373|infantile onset|C1848924|1.0
tay-sachs disease|C0039373|increased startle response|C1848918|1.0
tay-sachs disease|C0039373|seizures|C0036572|1.0
tay-sachs disease|C0039373|incidence of 1 in 320,000 births among non-jewish persons|C2749285|1.0
tay-sachs disease|C0039373|macular pallor with prominence of fovea centralis|C1848919|1.0
tay-sachs disease|C0039373|psychomotor deterioration|C1836842|1.0
trichotillomania|C0040953|alopecia resulting from compulsive hair pulling|C2750490|1.0
trichotillomania|C0040953|affects 1 to 3% of the population|C2750496|1.0
trichotillomania|C0040953|caused by mutation in the slit- and ntrk-like family, member 1 gene|C2750491|1.0
trichotillomania|C0040953|distress and functional impairment resulting from hair pulling behavior|C2750489|1.0
trichotillomania|C0040953|overlap with tourette syndrome|C2750495|1.0
trichotillomania|C0040953|overlap with obsessive-compulsive disorder|C3150461|1.0
trichotillomania|C0040953|affected individuals can pull hair from any part of the body, including eyelashes and eyebrows|C2750492|1.0
trichotillomania|C0040953|trichotillomania|C0040953|1.0
trichotillomania|C0040953|one patient reported with slitrk1 mutation|C2750497|1.0
white-sutton syndrome|C4225351|poor sleep|C0235162|1.0
white-sutton syndrome|C4225351|hypotonic facies|C4029280|1.0
white-sutton syndrome|C4225351|downturned corners of mouth|C1866195|1.0
white-sutton syndrome|C4225351|depressed nasal bridge|C1836542|1.0
white-sutton syndrome|C4225351|developmental delay|C0557874|1.0
white-sutton syndrome|C4225351|caused by mutation in the pogo transposable element with znf domain gene|C4228944|1.0
white-sutton syndrome|C4225351|hyperopia|C0020490|1.0
white-sutton syndrome|C4225351|congenital heart defects|C4228945|1.0
white-sutton syndrome|C4225351|midface retrusion|C1853242|1.0
white-sutton syndrome|C4225351|short neck|C0521525|1.0
white-sutton syndrome|C4225351|mental retardation|C3714756|1.0
white-sutton syndrome|C4225351|prognathism|C0033324|1.0
white-sutton syndrome|C4225351|self-harm|C0085271|1.0
white-sutton syndrome|C4225351|de novo mutation|C2985439|1.0
white-sutton syndrome|C4225351|broad nasal tip|C0426429|1.0
white-sutton syndrome|C4225351|short philtrum|C1861324|1.0
white-sutton syndrome|C4225351|hearing loss, sensorineural|C1969538|1.0
white-sutton syndrome|C4225351|pointed chin|C1844505|1.0
white-sutton syndrome|C4225351|feeding difficulties|C0232466|1.0
white-sutton syndrome|C4225351|short stature|C0349588|1.0
white-sutton syndrome|C4225351|strabismus|C0038379|1.0
white-sutton syndrome|C4225351|constipation|C0009806|1.0
white-sutton syndrome|C4225351|open mouth|C0240379|1.0
white-sutton syndrome|C4225351|brachydactyly|C0221357|1.0
white-sutton syndrome|C4225351|retinitis pigmentosa|C0035334|1.0
white-sutton syndrome|C4225351|muscle hypotonia|C0026827|1.0
white-sutton syndrome|C4225351|long malar ridge|C4228948|1.0
white-sutton syndrome|C4225351|myopia|C0027092|1.0
white-sutton syndrome|C4225351|variable features|C2673413|1.0
white-sutton syndrome|C4225351|posteriorly rotated|C0431478|1.0
white-sutton syndrome|C4225351|flat malar ridge|C4228947|1.0
white-sutton syndrome|C4225351|autistic features|C1846135|1.0
white-sutton syndrome|C4225351|onset in infancy or early childhood|C1837138|1.0
white-sutton syndrome|C4225351|gastroesophageal reflux|C0017168|1.0
white-sutton syndrome|C4225351|low-set ears|C0239234|1.0
white-sutton syndrome|C4225351|cortical blindness|C0155320|1.0
white-sutton syndrome|C4225351|visual abnormalities|C4228946|1.0
white-sutton syndrome|C4225351|small head|C0424688|1.0
white-sutton syndrome|C4225351|joint laxity|C0086437|1.0
white-sutton syndrome|C4225351|optic atrophy|C0029124|1.0
white-sutton syndrome|C4225351|astigmatism|C0004106|1.0
white-sutton syndrome|C4225351|brachycephaly|C0221356|1.0
white-sutton syndrome|C4225351|high arched palate|C0240635|1.0