{"Name":"Alobar holoprosencephaly","DiseaseID__c":"GARD:0016831","id":16831,"encodedName":"alobar-holoprosencephaly","IsDeleted":false,"Disease_Name_Full__c":"Alobar holoprosencephaly","Xref_IDs__c":"253137003; 423022670; C0431363; HP:0006988; MEDGEN:140909; MONDO:0019757; ORPHA:93925","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019757","Disease_Description__c":"A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.","GARD_Name__c":"Alobar holoprosencephaly","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0019757","Curated_Disease_Description__c":"A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93925","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019757","ORPHANET_ID__c":"ORPHA:93925","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Holoprosencefalia alobar","Spanish_Description_Source__c":"ORPHA:93925","Spanish_Description__c":"Es una forma grave de holoprosencefalia caracterizada por un ventrículo cerebral único y por la ausencia de cisura interhemisférica. Las características craneofaciales graves pueden manifestarse como ciclopía, etmocefalia o cebocefalia.","Spanish_Disease_Name__c":"holoprosencefalia alobar","Spanish_GARD_Synonym__c":null,"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":"A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.","Curated_Disease_Description_Source__c":"MONDO:0019757","Name":"Alobar holoprosencephaly","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Families for HoPE","Website__c":"https://familiesforhope.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93925"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93925"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1530","Source__c":"Gene Review","Xref__c":"NBK1530"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140909","Source__c":"C0431363","Xref__c":"MEDGEN:140909"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253137003","Source__c":"C0431363; MONDO:0019757","Xref__c":"253137003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431363","Source__c":"C0431363","Xref__c":"C0431363"},{"URL__c":"https://www.orpha.net/en/disease/detail/93925","Source__c":"C0431363; MONDO:0019757; ORPHA:93925","Xref__c":"ORPHA:93925"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006988","Source__c":"C0431363","Xref__c":"HP:0006988"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019757","Source__c":"GARD:0016831","Xref__c":"MONDO:0019757"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022670","Xref__c":"423022670"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"STAG2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SHH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/shh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PTCH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ptch1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GAS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"STIL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SIX3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/six3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CDON","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ZIC2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/zic2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NODAL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGF8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgf8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GLI2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PLCH1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TGIF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgif1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FOXH1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DLL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRIPTO","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DISP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000741","HPO_Synonym__c":"Lack of feeling, emotion, interest; Lack of feeling, emotion, interest, motivation, initiation; State of indifference","HPO_Name__c":"Apathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006315","HPO_Synonym__c":"Only one upper front tooth; Single central incisor; Single central upper incisor; Single maxillary central incisor; Single median incisor; Single median maxillary incisor; Single midline maxillary incisor; Single midline upper front tooth; Solitary median maxillary central incisor; Solitary midline maxillary central incisor","HPO_Name__c":"Solitary median maxillary central incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002871","HPO_Synonym__c":"Central apnoea","HPO_Name__c":"Central apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","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:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012806","HPO_Name__c":"Proboscis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006528","HPO_Synonym__c":"Chronic lung disease","HPO_Name__c":"Chronic lung disease","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality in the variability of the time interval between successive heartbeats.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031860","HPO_Name__c":"Abnormal heart rate variability","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002363","HPO_Synonym__c":"Abnormal shape of brainstem; Abnormality of brainstem morphology; Abnormality of the brainstem","HPO_Name__c":"Abnormal brainstem morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the rhythm or depth of breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002793","HPO_Synonym__c":"Abnormal pattern of respiration; Abnormal respiratory patterns; Unusual breathing patterns","HPO_Name__c":"Abnormal pattern of respiration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of cleft lip presenting as a midline (median) gap in the upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000161","HPO_Synonym__c":"Central cleft upper lip; Midline cleft lip","HPO_Name__c":"Median cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete lack of development of speech and language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001344","HPO_Synonym__c":"Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal","HPO_Name__c":"Absent speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045005","HPO_Synonym__c":"Abnormality of neural tube closure; NTD","HPO_Name__c":"Neural tube defect","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040327","HPO_Name__c":"Abnormal morphology of the olfactory bulb","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011787","HPO_Name__c":"Central hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocrine system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000818","HPO_Name__c":"Abnormality of the endocrine system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000873","HPO_Name__c":"Diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by aplasia of the Falx cerebri.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010654","HPO_Synonym__c":"Absent cerebral falx","HPO_Name__c":"Aplasia of the falx cerebri","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040064","HPO_Synonym__c":"Abnormal limbs; Abnormality of limbs; Limb anomaly","HPO_Name__c":"Abnormality of limbs","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005968","HPO_Synonym__c":"Temperature instability","HPO_Name__c":"Temperature instability","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of only a single nostril.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009932","HPO_Synonym__c":"Mono nostril; One nostril; Single nare; Single nostril","HPO_Name__c":"Single naris","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008947","HPO_Synonym__c":"Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia","HPO_Name__c":"Floppy infant","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000601","HPO_Synonym__c":"Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism","HPO_Name__c":"Hypotelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of any abnormality of the genitourinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000119","HPO_Synonym__c":"Abnormality of the GU system; Genitourinary abnormality; Genitourinary tract anomalies; Genitourinary tract malformation; Urogenital abnormalities; Urogenital anomalies","HPO_Name__c":"Abnormality of the genitourinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000871","HPO_Name__c":"Panhypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal structure of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012718","HPO_Synonym__c":"Abnormal shape of the digestive system; Morphological abnormality of the gastrointestinal tract; Morphological abnormality of the GI tract; Morphological anomaly of the digestive system","HPO_Name__c":"Abnormal gastrointestinal tract morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011951","HPO_Name__c":"Aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002270","HPO_Name__c":"Abnormality of the autonomic nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","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:93925","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009914","HPO_Synonym__c":"Cyclops eye; Single central eye","HPO_Name__c":"Cyclopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007301","HPO_Synonym__c":"Oral-motor apraxia","HPO_Name__c":"Oromotor apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002451","HPO_Name__c":"Limb dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal functionality of the hypothalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012285","HPO_Name__c":"Abnormal hypothalamus physiology","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100704","HPO_Synonym__c":"Cortical blindness; Cortical visual impairment; Cortical/cerebral visual impairment; CVI","HPO_Name__c":"Cerebral visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006979","HPO_Synonym__c":"Internal-clock disorders; Sleep phase disturbance; Sleep-wake cycle disorders; Sleep-wake cycle disturbance; Sleep-wake mistiming","HPO_Name__c":"Sleep-wake cycle disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating gastrostomy tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011471","HPO_Name__c":"Gastrostomy tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the control or production of movement in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011442","HPO_Synonym__c":"Abnormality of central motor function","HPO_Name__c":"Abnormal central motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93925","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Endocrine","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy","Pituitary deficiency"]},"synonyms":[""]}