{"Name":"Chiari type I malformation","DiseaseID__c":"GARD:0009233","id":9233,"encodedName":"chiari-type-i-malformation","IsDeleted":false,"Disease_Name_Full__c":"Chiari type I malformation","Xref_IDs__c":"253185002; C0750929; HP:0007099; MEDGEN:196689; MONDO:0007316; OMIM:118420; ORPHA:268882","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007316","Disease_Description__c":"A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.","GARD_Name__c":"Chiari type I malformation","GARD_Synonym__c":"arnold chiari type 1; arnold chiari type i malformation; arnold-chiari malformation type 1; arnold-chiari malformation type i; arnold-chiari type i malformation; chiari 1 malformation; chiari i malformation; chiari malformation type 1; chiari malformation type i; cm1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Arnold-Chiari malformation type I is a condition where the lower part of the brain, called the cerebellar tonsils, are pushed down too far below the skull. This can cause headaches, neck pain, dizziness, and ringing in the ears. It can also cause vision problems, difficulty swallowing, and problems with balance and coordination. Some people with this condition may not have any symptoms at all.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:268882","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007316","ORPHANET_ID__c":"ORPHA:268882","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación de arnold-chiari tipo i","Spanish_Description_Source__c":"ORPHA:268882","Spanish_Description__c":"Es una malformación del sistema nervioso central caracterizada por un desplazamiento caudal de las amígdalas cerebelosas que sobrepasan 5 mm por debajo del foramen magnum con o sin siringomielia. Los síntomas varían tanto en inicio como en gravedad, e incluyen cefalea suboccipital, dolor cervical, vértigo, tinnitus, síntomas oculares (diplopía, visión borrosa, fotofobia, nistagmo), signos de pares craneales bajos, ataxia cerebelosa y espasticidad. Algunos portadores de la alteración genética pueden estar asintomáticos.","Spanish_Disease_Name__c":"malformación de arnold-chiari tipo i","Spanish_GARD_Synonym__c":"malformación de arnold-chiari tipo 1; malformación de chiari tipo 1; malformación de chiari tipo i","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Arnold-Chiari malformation type I is a condition where the lower part of the brain, called the cerebellar tonsils, are pushed down too far below the skull. This can cause headaches, neck pain, dizziness, and ringing in the ears. It can also cause vision problems, difficulty swallowing, and problems with balance and coordination. Some people with this condition may not have any symptoms at all.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"arnold chiari type 1; arnold chiari type i malformation; arnold-chiari malformation type 1; arnold-chiari malformation type i; arnold-chiari type i malformation; chiari 1 malformation; chiari i malformation; chiari malformation type 1; chiari malformation type i; cm1","Name":"Chiari type I malformation","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Brain & Spine Foundation","Website__c":"https://www.brainandspine.org.uk/"},{"Account_Name__c":"American Syringomyelia & Chiari Alliance Project","Website__c":"https://asap.org/"},{"Account_Name__c":"Conquer Chiari","Website__c":"https://www.conquerchiari.org"},{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:268882"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:268882"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009233","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0750929","Source__c":"C0750929","Xref__c":"C0750929"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253185002","Source__c":"C0750929; MONDO:0007316","Xref__c":"253185002"},{"URL__c":"https://www.orpha.net/en/disease/detail/268882","Source__c":"C0750929; MONDO:0007316; ORPHA:268882","Xref__c":"ORPHA:268882"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=196689","Source__c":"C0750929","Xref__c":"MEDGEN:196689"},{"URL__c":"https://www.omim.org/entry/118420","Source__c":"C0750929; MONDO:0007316; ORPHA:268882","Xref__c":"OMIM:118420"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007099","Source__c":"C0750929","Xref__c":"HP:0007099"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007316","Source__c":"GARD:0009233","Xref__c":"MONDO:0007316"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DKK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040010","HPO_Name__c":"Small posterior fossa","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009591","HPO_Synonym__c":"Abnormal eighth cranial nerve morphology; Abnormality of the vestibulocochlear nerve; Abnormality of the VIIIth cranial nerve","HPO_Name__c":"Abnormal vestibulocochlear nerve morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003396","HPO_Synonym__c":"Fluid-filled cyst in spinal cord; Syrinx","HPO_Name__c":"Syringomyelia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030195","HPO_Name__c":"Fatigable weakness of swallowing muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002331","HPO_Name__c":"Recurrent paroxysmal headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to elicit tendon reflexes in the upper limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012046","HPO_Name__c":"Areflexia of upper limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004602","HPO_Synonym__c":"Fusion of cervical vertebrae c2-3; Klippel-Feil anomaly; Klippel-Feil syndrome","HPO_Name__c":"Cervical C2/C3 vertebral fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012534","HPO_Synonym__c":"Dysaesthesia; Hyperalgesia; Hyperpathia","HPO_Name__c":"Dysesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010558","HPO_Name__c":"Abnormality of the clivus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005758","HPO_Name__c":"Basilar impression","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012366","HPO_Name__c":"Basilar invagination","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002949","HPO_Synonym__c":"Cervical spine fusion; Cervical vertebral fusion; Fused neck; Fusion of cervical vertebrae","HPO_Name__c":"Fused cervical vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030833","HPO_Synonym__c":"Neck pain","HPO_Name__c":"Neck pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the eleventh cranial nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010825","HPO_Synonym__c":"Abnormality of cranial nerve XI; Abnormality of the accessory nerve","HPO_Name__c":"Abnormality of the eleventh cranial nerve","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the twelfth cranial nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010826","HPO_Synonym__c":"Abnormality of cranial nerve 12; Abnormality of cranial nerve xii; Abnormality of the hypoglossal nerve","HPO_Name__c":"Abnormality of the twelfth cranial nerve","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002196","HPO_Name__c":"Myelopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007099","HPO_Synonym__c":"Arnold Chiari type I malformation; Arnold-Chiari type I malformation; Chiari I malformation","HPO_Name__c":"Chiari type I malformation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the function of the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011389","HPO_Synonym__c":"Functional abnormality of the inner ear","HPO_Name__c":"Functional abnormality of the inner ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002512","HPO_Name__c":"Brain stem compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025258","HPO_Synonym__c":"Neck stiffness; Stiff neck","HPO_Name__c":"Stiff neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss of the ability to move the vocal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001605","HPO_Synonym__c":"Inability to move vocal cords; Laryngeal paralysis","HPO_Name__c":"Vocal cord paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002395","HPO_Synonym__c":"Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex","HPO_Name__c":"Lower limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anterior mislocalization of the dens of the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004608","HPO_Name__c":"Anteriorly placed odontoid process","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010536","HPO_Synonym__c":"Central sleep apnoea","HPO_Name__c":"Central sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001293","HPO_Name__c":"Cranial nerve compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of sensorineural deafness with late onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008615","HPO_Synonym__c":"Late sensorineural hearing loss; Sensorineural deafness, late-onset","HPO_Name__c":"Adult onset sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Peripheral sensory neuropathy affecting primarily distal sensation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007067","HPO_Synonym__c":"Peripheral sensory neuropathy, distal","HPO_Name__c":"Distal peripheral sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001437","HPO_Name__c":"Abnormality of the musculature of the lower limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:268882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["arnold chiari type 1"," arnold chiari type i malformation"," arnold-chiari malformation type 1"," arnold-chiari malformation type i"," arnold-chiari type i malformation"," chiari 1 malformation"," chiari i malformation"," chiari malformation type 1"," chiari malformation type i"," cm1"]}