{"context":{"query":">>hgnc>>hpo","source_dataset":"hgnc","target_dataset":"hpo"},"stats":{"queried":1,"total":80,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|definition","mappings":[{"input":"HGNC:2928","source":"HGNC:2928|dystrophin","targets":["HP:0000407|Sensorineural hearing impairment|","HP:0000750|Delayed speech and language development|","HP:0000969|Edema|","HP:0001252|Hypotonia|","HP:0001256|Mild intellectual disability|","HP:0001263|Global developmental delay|","HP:0001265|Hyporeflexia|","HP:0001270|Motor delay|","HP:0001288|Gait disturbance|","HP:0001324|Muscle weakness|","HP:0001328|Specific learning disability|","HP:0001371|Flexion contracture|","HP:0001417|X-linked inheritance|","HP:0001419|X-linked recessive inheritance|","HP:0001435|Abnormality of the shoulder girdle musculature|","HP:0001635|Congestive heart failure|","HP:0001638|Cardiomyopathy|","HP:0001644|Dilated cardiomyopathy|","HP:0001712|Left ventricular hypertrophy|","HP:0001727|Thromboembolic stroke|","HP:0001763|Pes planus|","HP:0001771|Achilles tendon contracture|","HP:0002091|Restrictive ventilatory defect|","HP:0002093|Respiratory insufficiency|","HP:0002194|Delayed gross motor development|","HP:0002380|Fasciculations|","HP:0002505|Loss of ambulation|","HP:0002515|Waddling gait|","HP:0002527|Falls|","HP:0002540|Inability to walk|","HP:0002650|Scoliosis|","HP:0002747|Respiratory insufficiency due to muscle weakness|","HP:0002791|Hypoventilation|","HP:0002814|Abnormality of the lower limb|","HP:0002870|Obstructive sleep apnea|","HP:0002875|Exertional dyspnea|","HP:0002878|Respiratory failure|","HP:0002910|Elevated circulating hepatic transaminase concentration|","HP:0002913|Myoglobinuria|","HP:0002938|Lumbar hyperlordosis|","HP:0002942|Thoracic kyphosis|","HP:0002943|Thoracic scoliosis|","HP:0002987|Elbow flexion contracture|","HP:0003089|Hamstring contractures|","HP:0003115|Abnormal EKG|","HP:0003198|Myopathy|","HP:0003202|Skeletal muscle atrophy|","HP:0003236|Elevated circulating creatine kinase concentration|","HP:0003307|Hyperlordosis|","HP:0003323|Progressive muscle weakness|","HP:0003324|Generalized muscle weakness|","HP:0003326|Myalgia|","HP:0003391|Gowers sign|","HP:0003394|Muscle spasm|","HP:0003409|Distal sensory impairment of all modalities|","HP:0003457|EMG abnormality|","HP:0003546|Exercise intolerance|","HP:0003551|Difficulty climbing stairs|","HP:0003557|Increased variability in muscle fiber diameter|","HP:0003560|Muscular dystrophy|","HP:0003581|Adult onset|","HP:0003621|Juvenile onset|","HP:0003701|Proximal muscle weakness|","HP:0003707|Calf muscle pseudohypertrophy|","HP:0003710|Exercise-induced muscle cramps|","HP:0003731|Quadriceps muscle weakness|","HP:0006380|Knee flexion contracture|","HP:0008981|Calf muscle hypertrophy|","HP:0011463|Childhood onset|","HP:0011675|Arrhythmia|","HP:0012086|Abnormal urinary color|","HP:0012378|Fatigue|","HP:0012764|Orthopnea|","HP:0025169|Left ventricular systolic dysfunction|","HP:0030051|Tip-toe gait|","HP:0030097|Absent muscle dystrophin expression|","HP:0032232|Elevated circulating CK-MB concentration|","HP:0033755|Increased left ventricular end-diastolic volume|","HP:0100543|Cognitive impairment|","HP:0100578|Lipoatrophy|"]}]}