{"disease":{"id":"OMIM:308050","name":"Congenital hemidysplasia with ichthyosiform erythroderma and limb defects","mondoId":"MONDO:0010621","description":"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies."},"categories":{"Limbs":[{"id":"HP:0010760","name":"Absent toe","metadata":{"sex":"","onset":"","frequency":"2/2","sources":["PMID:10710235"]},"category":"Limbs"},{"id":"HP:0000954","name":"Single transverse palmar crease","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Limbs"},{"id":"HP:0009565","name":"Aplasia of the distal phalanx of the 2nd finger","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Limbs"},{"id":"HP:0005650","name":"2-5 finger cutaneous syndactyly","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Limbs"},{"id":"HP:0009429","name":"Aplasia of the distal phalanx of the 3rd finger","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Limbs"},{"id":"HP:0006101","name":"Finger syndactyly","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:32819291"]},"category":"Limbs"},{"id":"HP:0004692","name":"4-5 toe syndactyly","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Limbs"},{"id":"HP:0001374","name":"Congenital hip dislocation","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:10710233"]},"category":"Limbs"},{"id":"HP:0009576","name":"Absent middle phalanx of 2nd finger","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Limbs"},{"id":"HP:0001159","name":"Syndactyly","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Limbs"},{"id":"HP:0009438","name":"Absent middle phalanx of 3rd finger","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Limbs"}],"Nervous System":[{"id":"HP:0002977","name":"Aplasia/Hypoplasia involving the central nervous system","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:308050"]},"category":"Nervous System"},{"id":"HP:0001256","name":"Mild intellectual disability","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:308050"]},"category":"Nervous System"}],"Cardiovascular":[{"id":"HP:0001750","name":"Single ventricle","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:308050"]},"category":"Cardiovascular"},{"id":"HP:0001671","name":"Abnormal cardiac septum morphology","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:308050"]},"category":"Cardiovascular"},{"id":"HP:0010783","name":"Erythema","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Cardiovascular"}],"Growth":[{"id":"HP:0004322","name":"Short stature","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:12668600"]},"category":"Growth"},{"id":"HP:0008883","name":"Mild intrauterine growth retardation","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:308050"]},"category":"Growth"}],"Inheritance":[{"id":"HP:0001423","name":"X-linked dominant inheritance","metadata":{"sex":"","onset":"","frequency":"","sources":["PMID:10710235"]},"category":"Inheritance"}],"Respiratory System":[{"id":"HP:0002089","name":"Pulmonary hypoplasia","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:12668600"]},"category":"Respiratory System"}],"Endocrine":[{"id":"HP:0005990","name":"Thyroid hypoplasia","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:308050"]},"category":"Endocrine"},{"id":"HP:0000835","name":"Adrenal hypoplasia","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:308050"]},"category":"Endocrine"}],"Skin, Hair, and Nails":[{"id":"HP:0001792","name":"Small nail","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0007431","name":"Congenital ichthyosiform erythroderma","metadata":{"sex":"","onset":"","frequency":"Obligate","sources":["PMID:12668600"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0001596","name":"Alopecia","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:12668600"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0025092","name":"Epidermal acanthosis","metadata":{"sex":"","onset":"","frequency":"1/2","sources":["PMID:10710235"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0001036","name":"Parakeratosis","metadata":{"sex":"","onset":"","frequency":"2/3","sources":["PMID:33139364","PMID:10710235"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0000962","name":"Hyperkeratosis","metadata":{"sex":"","onset":"","frequency":"2/2","sources":["PMID:10710235"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0003764","name":"Nevus","metadata":{"sex":"","onset":"","frequency":"1/2","sources":["PMID:10710235"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0040162","name":"Orthokeratosis","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0010816","name":"Epidermal nevus","metadata":{"sex":"","onset":"","frequency":"1/2","sources":["PMID:10710235"]},"category":"Skin, Hair, and Nails"}],"Connective tissue":[{"id":"HP:0001537","name":"Umbilical hernia","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:308050"]},"category":"Connective tissue"},{"id":"HP:0001371","name":"Flexion contracture","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:10710233"]},"category":"Connective tissue"}],"Clinical course":[{"id":"HP:0003577","name":"Congenital onset","metadata":{"sex":"","onset":"","frequency":"3/3","sources":["PMID:33139364","PMID:10710235"]},"category":"Clinical course"},{"id":"HP:0003826","name":"Stillbirth","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:308050"]},"category":"Clinical course"}],"Metabolism/Laboratory abnormality":[{"id":"HP:0003462","name":"Elevated 8-dehydrocholesterol","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:10710233"]},"category":"Metabolism/Laboratory abnormality"},{"id":"HP:0003465","name":"Elevated 8(9)-cholestenol","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:10710233"]},"category":"Metabolism/Laboratory abnormality"}],"Genitourinary system":[{"id":"HP:0000126","name":"Hydronephrosis","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:308050"]},"category":"Genitourinary system"},{"id":"HP:0000122","name":"Unilateral renal agenesis","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:32819291"]},"category":"Genitourinary system"}],"Ear":[{"id":"HP:0000365","name":"Hearing impairment","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:308050"]},"category":"Ear"}],"Head and neck":[{"id":"HP:0000347","name":"Micrognathia","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:308050"]},"category":"Head and neck"},{"id":"HP:0005280","name":"Depressed nasal bridge","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33139364"]},"category":"Head and neck"},{"id":"HP:0000204","name":"Cleft upper lip","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:308050"]},"category":"Head and neck"}],"Skeletal system":[{"id":"HP:0000773","name":"Short ribs","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:10710233"]},"category":"Skeletal system"},{"id":"HP:0008417","name":"Vertebral hypoplasia","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:10710233"]},"category":"Skeletal system"},{"id":"HP:0002650","name":"Scoliosis","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:10710233"]},"category":"Skeletal system"},{"id":"HP:0008839","name":"Hypoplastic pelvis","metadata":{"sex":"","onset":"","frequency":"12/20","sources":["OMIM:308050"]},"category":"Skeletal system"},{"id":"HP:0000894","name":"Short clavicles","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["PMID:10710233"]},"category":"Skeletal system"},{"id":"HP:0010655","name":"Epiphyseal stippling","metadata":{"sex":"","onset":"HP:0003593","frequency":"Very frequent","sources":["PMID:12668600"]},"category":"Skeletal system"},{"id":"HP:0000882","name":"Hypoplastic scapulae","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:308050"]},"category":"Skeletal system"}]},"genes":[{"id":"NCBIGene:50814","name":"NSDHL"}],"medicalActions":[]}