{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001263", "xref": ["HP:0001263"], "name": "Global developmental delay"}, "patient_count": 3, "case_report_count": 3, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "Developmental delays (gross motor, fine motor, speech)", "source_text": "Developmental delays (gross motor, fine motor, speech)", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}, {"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Developmental delays (gross motor, fine motor, speech)", "source_text": "Developmental delays (gross motor, fine motor, speech)", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}, {"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Developmental delays (gross motor, fine motor, speech)", "source_text": "Developmental delays (gross motor, fine motor, speech)", "group": null}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}, {"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Delayed psychomotor development", "source_text": "Delayed psychomotor development; Other neurological anomalies", "group": "Neurologic/Audiologic"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005045", "xref": ["MONDO:0005045"], "name": "hypertrophic cardiomyopathy"}, "patient_count": 3, "case_report_count": 3, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Hypertrophic cardiomyopathy (without symptoms)", "source_text": "Hypertrophic cardiomyopathy (without symptoms)", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}, {"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Hypertrophic cardiomyopathy (with symptoms)", "source_text": "Hypertrophic cardiomyopathy (with symptoms)", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}, {"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Hypertrophic cardiomyopathy (with symptoms)", "source_text": "Hypertrophic cardiomyopathy (with symptoms)", "group": null}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005045", "xref": ["MONDO:0005045"], "name": "hypertrophic cardiomyopathy"}, "patient_count": 3, "case_report_count": 3, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Hypertrophic cardiomyopathy (with symptoms)", "source_text": "Hypertrophic cardiomyopathy (with symptoms)", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}, {"case_report": {"id": "55e9d96a-33c4-4999-b7e2-57eda449cad0", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/55e9d96a-33c4-4999-b7e2-57eda449cad0"}, "finding": {"source_value": "Hypertrophic cardiomyopathy (with symptoms)", "source_text": "Hypertrophic cardiomyopathy (with symptoms)", "group": null}, "patient": {"sex": "Female", "age_group": "4 - 6 months", "ethnicity": null, "country_treated": "Denmark", "race": null}}, {"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Hypertrophic cardiomyopathy (with symptoms)", "source_text": "Hypertrophic cardiomyopathy (with symptoms)", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0034350", "xref": ["HP:0034350"], "name": "Valvular pulmonary stenosis"}, "patient_count": 3, "case_report_count": 3, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Pulmonary valvular stenosis", "source_text": "Pulmonary valvular stenosis", "group": null}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}, {"case_report": {"id": "55e9d96a-33c4-4999-b7e2-57eda449cad0", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/55e9d96a-33c4-4999-b7e2-57eda449cad0"}, "finding": {"source_value": "Pulmonary valvular stenosis", "source_text": "Pulmonary valvular stenosis", "group": null}, "patient": {"sex": "Female", "age_group": "4 - 6 months", "ethnicity": null, "country_treated": "Denmark", "race": null}}, {"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Pulmonary valvular stenosis", "source_text": "Pulmonary valvular stenosis", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "ORPHA:544254", "xref": ["Unknown:544254"], "name": "SYNGAP1-related developmental and epileptic encephalopathy"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001249", "xref": ["HP:0001249"], "name": "Intellectual disability"}, "patient_count": 3, "case_report_count": 3, "evidence": [{"case_report": {"id": "1301dd3d-9cc2-4a40-a5b7-bd0cc0083968", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/1301dd3d-9cc2-4a40-a5b7-bd0cc0083968"}, "finding": {"source_value": "Intellectual or learning differences", "source_text": "Intellectual or learning differences", "group": null}, "patient": {"sex": "Female", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["Black or African American", "White"]}}, {"case_report": {"id": "16397f81-5bc3-47e3-8135-82e11ca3ad44", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/16397f81-5bc3-47e3-8135-82e11ca3ad44"}, "finding": {"source_value": "Intellectual or learning differences", "source_text": "Intellectual or learning differences", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}, {"case_report": {"id": "86a9442a-f603-47b4-9c7b-ce4ba7140301", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/86a9442a-f603-47b4-9c7b-ce4ba7140301"}, "finding": {"source_value": "Intellectual or learning differences", "source_text": "Intellectual or learning differences", "group": null}, "patient": {"sex": null, "age_group": null, "ethnicity": null, "country_treated": null, "race": null}}]}
{"condition": {"id": "ORPHA:544254", "xref": ["Unknown:544254"], "name": "SYNGAP1-related developmental and epileptic encephalopathy"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001328", "xref": ["HP:0001328"], "name": "Specific learning disability"}, "patient_count": 3, "case_report_count": 3, "evidence": [{"case_report": {"id": "1301dd3d-9cc2-4a40-a5b7-bd0cc0083968", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/1301dd3d-9cc2-4a40-a5b7-bd0cc0083968"}, "finding": {"source_value": "Intellectual or learning differences", "source_text": "Intellectual or learning differences", "group": null}, "patient": {"sex": "Female", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["Black or African American", "White"]}}, {"case_report": {"id": "16397f81-5bc3-47e3-8135-82e11ca3ad44", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/16397f81-5bc3-47e3-8135-82e11ca3ad44"}, "finding": {"source_value": "Intellectual or learning differences", "source_text": "Intellectual or learning differences", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}, {"case_report": {"id": "86a9442a-f603-47b4-9c7b-ce4ba7140301", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/86a9442a-f603-47b4-9c7b-ce4ba7140301"}, "finding": {"source_value": "Intellectual or learning differences", "source_text": "Intellectual or learning differences", "group": null}, "patient": {"sex": null, "age_group": null, "ethnicity": null, "country_treated": null, "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001671", "xref": ["HP:0001671"], "name": "Abnormal cardiac septum morphology"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Septal defect (Atrial or Ventricular)", "source_text": "Septal defect (Atrial or Ventricular)", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}, {"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Septal defect (Atrial or Ventricular)", "source_text": "Septal defect (Atrial or Ventricular)", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001999", "xref": ["HP:0001999"], "name": "Abnormal facial shape"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Dysmorphic coarse facial features", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}, {"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Dysmorphic facies", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002212", "xref": ["HP:0002212"], "name": "Curly hair"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Curly hair, sparse eyebrows, prominent forehead, and a small chin", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}, {"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair", "source_text": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair; idiopathic central precocious puberty; hypernatremia on 2 occasions despite good ability to produce concentrated urine; asymptomatic hyperprolactinemia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "NCIT:C107587", "xref": ["NCIT:C107587"], "name": "Failure to Thrive"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "Failure to thrive", "source_text": "Failure to thrive", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}, {"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Failure to thrive", "source_text": "Failure to thrive", "group": null}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000347", "xref": ["HP:0000347"], "name": "Micrognathia"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Curly hair, sparse eyebrows, prominent forehead, and a small chin", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}, {"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Micrognathia", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001250", "xref": ["HP:0001250"], "name": "Seizures"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Seizures", "source_text": "Seizures", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}, {"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "Seizures", "source_text": "Seizures", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002298", "xref": ["HP:0002298"], "name": "Sparse hair"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair", "source_text": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair; idiopathic central precocious puberty; hypernatremia on 2 occasions despite good ability to produce concentrated urine; asymptomatic hyperprolactinemia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}, {"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Very thin eyebrows and scarce hair", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0034350", "xref": ["HP:0034350"], "name": "Valvular pulmonary stenosis"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Pulmonary valvular stenosis", "source_text": "Pulmonary valvular stenosis", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}, {"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Pulmonary valvular stenosis", "source_text": "Pulmonary valvular stenosis", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001671", "xref": ["HP:0001671"], "name": "Abnormal cardiac septum morphology"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Septal defect (Atrial or Ventricular)", "source_text": "Septal defect (Atrial or Ventricular)", "group": null}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}, {"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Septal defect (Atrial or Ventricular)", "source_text": "Septal defect (Atrial or Ventricular)", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0007263", "xref": ["MONDO:0007263"], "name": "Arrhythmia"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Arrhythmia", "source_text": "Arrhythmia", "group": null}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}, {"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Arrhythmia", "source_text": "Arrhythmia", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0010310", "xref": ["HP:0010310"], "name": "Chylothorax"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Chylothorax (not as a result of a post-operative complication)", "source_text": "Chylothorax (not as a result of a post-operative complication)", "group": null}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}, {"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Chylothorax (not as a result of a post-operative complication)", "source_text": "Chylothorax (not as a result of a post-operative complication)", "group": null}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005009", "xref": ["MONDO:0005009"], "name": "congestive heart failure"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Congestive heart failure", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}, {"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Congestive Heart Failure", "source_text": "Ectopic and Multifocal Atrial Tachycardias; Congestive Heart Failure; Biventricular Hypertrophy; Atrial Ectopy", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "ORPHA:544254", "xref": ["Unknown:544254"], "name": "SYNGAP1-related developmental and epileptic encephalopathy"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001263", "xref": ["HP:0001263"], "name": "Global developmental delay"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "1301dd3d-9cc2-4a40-a5b7-bd0cc0083968", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/1301dd3d-9cc2-4a40-a5b7-bd0cc0083968"}, "finding": {"source_value": "Developmental delays (gross motor, fine motor, speech)", "source_text": "Developmental delays (gross motor, fine motor, speech)", "group": null}, "patient": {"sex": "Female", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["Black or African American", "White"]}}, {"case_report": {"id": "16397f81-5bc3-47e3-8135-82e11ca3ad44", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/16397f81-5bc3-47e3-8135-82e11ca3ad44"}, "finding": {"source_value": "Developmental delays (gross motor, fine motor, speech)", "source_text": "Developmental delays (gross motor, fine motor, speech)", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "ORPHA:544254", "xref": ["Unknown:544254"], "name": "SYNGAP1-related developmental and epileptic encephalopathy"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001250", "xref": ["HP:0001250"], "name": "Seizures"}, "patient_count": 2, "case_report_count": 2, "evidence": [{"case_report": {"id": "16397f81-5bc3-47e3-8135-82e11ca3ad44", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/16397f81-5bc3-47e3-8135-82e11ca3ad44"}, "finding": {"source_value": "Seizures", "source_text": "Seizures", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}, {"case_report": {"id": "86a9442a-f603-47b4-9c7b-ce4ba7140301", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/86a9442a-f603-47b4-9c7b-ce4ba7140301"}, "finding": {"source_value": "Seizures", "source_text": "Seizures", "group": null}, "patient": {"sex": null, "age_group": null, "ethnicity": null, "country_treated": null, "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000707", "xref": ["HP:0000707"], "name": "Abnormality of the nervous system"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Other neurological anomalies", "source_text": "Delayed psychomotor development; Other neurological anomalies", "group": "Neurologic/Audiologic"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002230", "xref": ["HP:0002230"], "name": "Absent body hair"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Sparse scalp hair and no eyelashes, eyebrows, or body hair", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002223", "xref": ["HP:0002223"], "name": "Absent eyebrow"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Sparse scalp hair and no eyelashes, eyebrows, or body hair", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000561", "xref": ["HP:0000561"], "name": "Absent eyelashes"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Sparse scalp hair and no eyelashes, eyebrows, or body hair", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0004980", "xref": ["MONDO:0004980"], "name": "atopic eczema"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Eczema", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001488", "xref": ["HP:0001488"], "name": "Bilateral ptosis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Bilateral ptosis", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000343", "xref": ["HP:0000343"], "name": "Bitemporal narrowing"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair", "source_text": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair; idiopathic central precocious puberty; hypernatremia on 2 occasions despite good ability to produce concentrated urine; asymptomatic hyperprolactinemia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001030", "xref": ["HP:0001030"], "name": "Blister"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Skin Pustules/blisters", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0003196", "xref": ["HP:0003196"], "name": "Broad nasal bridge"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair", "source_text": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair; idiopathic central precocious puberty; hypernatremia on 2 occasions despite good ability to produce concentrated urine; asymptomatic hyperprolactinemia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0015790", "xref": ["MONDO:0015790"], "name": "central diabetes insipidus"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "Transient Central Diabetes Insipidus", "source_text": "Transient Central Diabetes Insipidus", "group": "Endocrine/Growth"}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002120", "xref": ["HP:0002120"], "name": "Cerebral cortical atrophy"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Cortical atrophy", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000280", "xref": ["HP:0000280"], "name": "Coarse facial features"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Dysmorphic coarse facial features", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002208", "xref": ["HP:0002208"], "name": "Coarse hair"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Coarse and unruly hair", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0008734", "xref": ["HP:0008734"], "name": "Decreased testicular size"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Atrophic right testicle", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002002", "xref": ["HP:0002002"], "name": "Deep philtrum"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Prominent philtrum", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0011471", "xref": ["HP:0011471"], "name": "Gastrostomy tube feeding"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "G tube fed", "source_text": "G tube fed", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001290", "xref": ["HP:0001290"], "name": "Generalized hypotonia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Generalized hypotonia", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002955", "xref": ["HP:0002955"], "name": "Granulomatosis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Histopathologic findings including periadnexal granuloma", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002046", "xref": ["HP:0002046"], "name": "Heat intolerance"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Heat intolerance of more severe skin lesions", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000975", "xref": ["HP:0000975"], "name": "Hyperhidrosis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Hyperhidrosis", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000962", "xref": ["HP:0000962"], "name": "Hyperkeratosis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Hyperkeratosis", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0003228", "xref": ["HP:0003228"], "name": "Hypernatremia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "hypernatremia on 2 occasions despite good ability to produce concentrated urine", "source_text": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair; idiopathic central precocious puberty; hypernatremia on 2 occasions despite good ability to produce concentrated urine; asymptomatic hyperprolactinemia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005804", "xref": ["MONDO:0005804"], "name": "hyperprolactinemia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "asymptomatic hyperprolactinemia", "source_text": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair; idiopathic central precocious puberty; hypernatremia on 2 occasions despite good ability to produce concentrated urine; asymptomatic hyperprolactinemia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001252", "xref": ["HP:0001252"], "name": "Hypotonia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Hypotonia", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002521", "xref": ["HP:0002521"], "name": "Hypsarrhythmia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Hypsarrythmia on interictal EEG", "source_text": "Hypsarrythmia on interictal EEG; Decrease in left ventricular stroke volume", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0015713", "xref": ["MONDO:0015713"], "name": "idiopathic central precocious puberty"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "idiopathic central precocious puberty", "source_text": "craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair; idiopathic central precocious puberty; hypernatremia on 2 occasions despite good ability to produce concentrated urine; asymptomatic hyperprolactinemia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0012469", "xref": ["HP:0012469"], "name": "Infantile spasms"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Infantile spasms", "source_text": "Infantile spasms", "group": "Neurologic/Audiologic"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "UMLS:C5936582", "xref": ["UMLS:C5936582"], "name": "Inflammatory dermatitis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Inflammatory dermatitis", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001382", "xref": ["HP:0001382"], "name": "Joint hypermobility"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Generalized hyperpassivity", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}, {"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Generalized hyperextensivity", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0032152", "xref": ["HP:0032152"], "name": "Keratosis pillaris"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Keratosis pillaris", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "SNOMED:722919003", "xref": ["Unknown:722919003"], "name": "Left ventricular ejection fraction decreased (finding)"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Decrease in left ventricular stroke volume", "source_text": "Hypsarrythmia on interictal EEG; Decrease in left ventricular stroke volume", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0030917", "xref": ["HP:0030917"], "name": "Low APGAR score"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "1- and 5-minute Apgar scores were 4 and 6, respectively", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0015496", "xref": ["MONDO:0015496"], "name": "macroglossia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Macroglossia", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0011217", "xref": ["HP:0011217"], "name": "Narrowing of the forehead"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Bitemporal constriction", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000982", "xref": ["HP:0000982"], "name": "Palmoplantar keratoderma"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Yellowish palmoplantar keratoderma", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000358", "xref": ["HP:0000358"], "name": "Posteriorly rotated ears"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Posteriorly rotated ears", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0011220", "xref": ["HP:0011220"], "name": "Prominent forehead"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Curly hair, sparse eyebrows, prominent forehead, and a small chin", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000989", "xref": ["HP:0000989"], "name": "Pruritus"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Severe Itching", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0003765", "xref": ["HP:0003765"], "name": "Psoriasis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Diffuse erythematous lesions covered by thick scales", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0200039", "xref": ["HP:0200039"], "name": "Pustule"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Skin Pustules/blisters", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0025382", "xref": ["HP:0025382"], "name": "Reduced fluid intake"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Poor oral intake of fluids", "source_text": "Poor oral intake of fluids", "group": "Gastrointestinal"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "UMLS:C0232483", "xref": ["UMLS:C0232483"], "name": "Reflux"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "Reflux", "source_text": "Reflux", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0005240", "xref": ["HP:0005240"], "name": "Scalp hyperkeratosis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Thick hyperkeratotic scalp plaques", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0004322", "xref": ["HP:0004322"], "name": "Short stature"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "finding": {"source_value": "Short stature", "source_text": "Short stature", "group": null}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002360", "xref": ["HP:0002360"], "name": "Sleep disturbance"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Sleep disturbance", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0045075", "xref": ["HP:0045075"], "name": "Sparse eyebrow"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "finding": {"source_value": "Curly hair, sparse eyebrows, prominent forehead, and a small chin", "source_text": "1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000587", "xref": ["HP:0000587"], "name": "Sparse eyebrow"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Very thin eyebrows and scarce hair", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002209", "xref": ["HP:0002209"], "name": "Sparse scalp hair"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Sparse scalp hair and no eyelashes, eyebrows, or body hair", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "UMLS:C0025570", "xref": ["UMLS:C0025570"], "name": "Squamous metaplasia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "finding": {"source_value": "Histopathologic findings including eccrine squamous metaplasia", "source_text": "Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005545", "xref": ["MONDO:0005545"], "name": "staphylococcus aureus infection"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "finding": {"source_value": "Staphylococcus superinfections", "source_text": "Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"condition": {"id": "MONDO:0009026", "xref": ["MONDO:0009026"], "name": "Costello syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005045", "xref": ["MONDO:0005045"], "name": "hypertrophic cardiomyopathy"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "7e937c08-1c12-4070-8844-ba936624e6ef", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/7e937c08-1c12-4070-8844-ba936624e6ef"}, "finding": {"source_value": "Hypertrophic cardiomyopathy (with symptoms)", "source_text": "Hypertrophic cardiomyopathy (with symptoms)", "group": null}, "patient": {"sex": "Female", "age_group": "7 - 11 months", "ethnicity": "Hispanic/Latino", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0009026", "xref": ["MONDO:0009026"], "name": "Costello syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0004946", "xref": ["MONDO:0004946"], "name": "hypoglycemia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "7e937c08-1c12-4070-8844-ba936624e6ef", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/7e937c08-1c12-4070-8844-ba936624e6ef"}, "finding": {"source_value": "hypoglycemia", "source_text": "hypoglycemia", "group": "Endocrine/Growth"}, "patient": {"sex": "Female", "age_group": "7 - 11 months", "ethnicity": "Hispanic/Latino", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0009026", "xref": ["MONDO:0009026"], "name": "Costello syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0021113", "xref": ["MONDO:0021113"], "name": "respiratory failure"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "7e937c08-1c12-4070-8844-ba936624e6ef", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/7e937c08-1c12-4070-8844-ba936624e6ef"}, "finding": {"source_value": "presumed lymphatic dysfunction, respiratory failure", "source_text": "presumed lymphatic dysfunction, respiratory failure", "group": "Lymphatic/Immunologic"}, "patient": {"sex": "Female", "age_group": "7 - 11 months", "ethnicity": "Hispanic/Latino", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0009026", "xref": ["MONDO:0009026"], "name": "Costello syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "SNOMED:47135001", "xref": ["Unknown:47135001"], "name": "Somatic dysfunction (finding)"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "7e937c08-1c12-4070-8844-ba936624e6ef", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/7e937c08-1c12-4070-8844-ba936624e6ef"}, "finding": {"source_value": "presumed lymphatic dysfunction, respiratory failure", "source_text": "presumed lymphatic dysfunction, respiratory failure", "group": "Lymphatic/Immunologic"}, "patient": {"sex": "Female", "age_group": "7 - 11 months", "ethnicity": "Hispanic/Latino", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0009026", "xref": ["MONDO:0009026"], "name": "Costello syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0034350", "xref": ["HP:0034350"], "name": "Valvular pulmonary stenosis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "7e937c08-1c12-4070-8844-ba936624e6ef", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/7e937c08-1c12-4070-8844-ba936624e6ef"}, "finding": {"source_value": "Pulmonary valvular stenosis", "source_text": "Pulmonary valvular stenosis", "group": null}, "patient": {"sex": "Female", "age_group": "7 - 11 months", "ethnicity": "Hispanic/Latino", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "UMLS:C0264714", "xref": ["UMLS:C0264714"], "name": "Acute heart failure"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Acute heart failure", "source_text": "Atrial tachycardia; Acute heart failure; Hypotension", "group": "Cardiac"}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0100130", "xref": ["MONDO:0100130"], "name": "adult acute respiratory distress syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Acute respiratory distress", "source_text": "Acute respiratory distress; Bilateral parenchymal lung consolidation; Pleural effusion", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001692", "xref": ["HP:0001692"], "name": "Atrial arrhythmia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Atrial Ectopy", "source_text": "Ectopic and Multifocal Atrial Tachycardias; Congestive Heart Failure; Biventricular Hypertrophy; Atrial Ectopy", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005479", "xref": ["MONDO:0005479"], "name": "atrial tachycardia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Atrial tachycardia", "source_text": "Atrial tachycardia; Acute heart failure; Hypotension", "group": "Cardiac"}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0200128", "xref": ["HP:0200128"], "name": "Biventricular hypertrophy"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Biventricular Hypertrophy", "source_text": "Ectopic and Multifocal Atrial Tachycardias; Congestive Heart Failure; Biventricular Hypertrophy; Atrial Ectopy", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0008888", "xref": ["MONDO:0008888"], "name": "Bronchomalacia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Severe Left Main-Stem Bronchomalacia", "source_text": "Macrocephaly; Widely Spaced Nipples; Severe Left Main-Stem Bronchomalacia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000961", "xref": ["HP:0000961"], "name": "Cyanosis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Cyanosis", "source_text": "Hypotonia; Cyanosis; Hyporeflexia; Low Apgar score; Grade II cerebral ventricular hemorrhage; Profound hypoxic crises; Moderate hypercarbia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "SNOMED:233892002", "xref": ["Unknown:233892002"], "name": "Ectopic atrial tachycardia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Ectopic and Multifocal Atrial Tachycardias", "source_text": "Ectopic and Multifocal Atrial Tachycardias; Congestive Heart Failure; Biventricular Hypertrophy; Atrial Ectopy", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "UMLS:C0151888", "xref": ["UMLS:C0151888"], "name": "Hyporeflexia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Hyporeflexia", "source_text": "Hypotonia; Cyanosis; Hyporeflexia; Low Apgar score; Grade II cerebral ventricular hemorrhage; Profound hypoxic crises; Moderate hypercarbia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005468", "xref": ["MONDO:0005468"], "name": "hypotension"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Hypotension", "source_text": "Atrial tachycardia; Acute heart failure; Hypotension", "group": "Cardiac"}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001252", "xref": ["HP:0001252"], "name": "Hypotonia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Hypotonia", "source_text": "Hypotonia; Cyanosis; Hyporeflexia; Low Apgar score; Grade II cerebral ventricular hemorrhage; Profound hypoxic crises; Moderate hypercarbia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0012418", "xref": ["HP:0012418"], "name": "Hypoxia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Profound hypoxic crises", "source_text": "Hypotonia; Cyanosis; Hyporeflexia; Low Apgar score; Grade II cerebral ventricular hemorrhage; Profound hypoxic crises; Moderate hypercarbia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}, {"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Moderate hypercarbia", "source_text": "Hypotonia; Cyanosis; Hyporeflexia; Low Apgar score; Grade II cerebral ventricular hemorrhage; Profound hypoxic crises; Moderate hypercarbia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0030746", "xref": ["HP:0030746"], "name": "Intraventricular hemorrhage"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Grade II cerebral ventricular hemorrhage", "source_text": "Hypotonia; Cyanosis; Hyporeflexia; Low Apgar score; Grade II cerebral ventricular hemorrhage; Profound hypoxic crises; Moderate hypercarbia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0030917", "xref": ["HP:0030917"], "name": "Low APGAR score"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Low Apgar score", "source_text": "Hypotonia; Cyanosis; Hyporeflexia; Low Apgar score; Grade II cerebral ventricular hemorrhage; Profound hypoxic crises; Moderate hypercarbia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "UMLS:C0521530", "xref": ["UMLS:C0521530"], "name": "Lung consolidation"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Bilateral parenchymal lung consolidation", "source_text": "Acute respiratory distress; Bilateral parenchymal lung consolidation; Pleural effusion", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0000256", "xref": ["HP:0000256"], "name": "Macrocephaly"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Macrocephaly", "source_text": "Macrocephaly; Widely Spaced Nipples; Severe Left Main-Stem Bronchomalacia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:1030008", "xref": ["MONDO:1030008"], "name": "mitral valve insufficiency"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Mild mitral regurgitation", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0017988", "xref": ["MONDO:0017988"], "name": "multifocal atrial tachycardia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Ectopic and Multifocal Atrial Tachycardias", "source_text": "Ectopic and Multifocal Atrial Tachycardias; Congestive Heart Failure; Biventricular Hypertrophy; Atrial Ectopy", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0002202", "xref": ["HP:0002202"], "name": "Pleural effusion"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Pleural effusion", "source_text": "Acute respiratory distress; Bilateral parenchymal lung consolidation; Pleural effusion", "group": "Diagnoses not listed above"}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001824", "xref": ["HP:0001824"], "name": "Poor weight gain"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "55e9d96a-33c4-4999-b7e2-57eda449cad0", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/55e9d96a-33c4-4999-b7e2-57eda449cad0"}, "finding": {"source_value": "Difficulty gaining weight", "source_text": "Difficulty gaining weight", "group": null}, "patient": {"sex": "Female", "age_group": "4 - 6 months", "ethnicity": null, "country_treated": "Denmark", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "UMLS:C1299564", "xref": ["UMLS:C1299564"], "name": "Posthemorrhagic hydrocephalus"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Posthemorrhagic hydrocephalus", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0004937", "xref": ["HP:0004937"], "name": "Pulmonary artery aneurysm"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Pulmonary artery aneurysm", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0004927", "xref": ["HP:0004927"], "name": "Pulmonary artery dilatation"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Pulmonary artery dilation", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}, {"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Pulmonary artery dilation", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0018554", "xref": ["MONDO:0018554"], "name": "pulmonary capillary haemangiomatosis"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Pulmonary capillary hemangiomatosis", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005149", "xref": ["MONDO:0005149"], "name": "pulmonary hypertension"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Pulmonary hypertension", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0006521", "xref": ["HP:0006521"], "name": "Pulmonary lymphangiectasia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "finding": {"source_value": "Lymphangiectasia - Pulmonary", "source_text": "Lymphangiectasia - Pulmonary", "group": null}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001705", "xref": ["HP:0001705"], "name": "Right ventricular outlet tract obstruction"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "55e9d96a-33c4-4999-b7e2-57eda449cad0", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/55e9d96a-33c4-4999-b7e2-57eda449cad0"}, "finding": {"source_value": "Right Ventricular Outflow Tract Obstruction (RVOTO)", "source_text": "Right Ventricular Outflow Tract Obstruction (RVOTO)", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "4 - 6 months", "ethnicity": null, "country_treated": "Denmark", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0004322", "xref": ["HP:0004322"], "name": "Short stature"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "55e9d96a-33c4-4999-b7e2-57eda449cad0", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/55e9d96a-33c4-4999-b7e2-57eda449cad0"}, "finding": {"source_value": "Short stature", "source_text": "Short stature", "group": null}, "patient": {"sex": "Female", "age_group": "4 - 6 months", "ethnicity": null, "country_treated": "Denmark", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0031561", "xref": ["HP:0031561"], "name": "Thickened aortic valve leaflets"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "finding": {"source_value": "Aortic valve with thickened cusps", "source_text": "Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;", "group": "Cardiac"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0006610", "xref": ["HP:0006610"], "name": "Wide intermamillary distance"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "finding": {"source_value": "Widely Spaced Nipples", "source_text": "Macrocephaly; Widely Spaced Nipples; Severe Left Main-Stem Bronchomalacia", "group": "Diagnoses not listed above"}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "UMLS:C0857322", "xref": ["UMLS:C0857322"], "name": "Anaemic"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Anemic", "source_text": "Anemic", "group": "Hematologic/Oncologic"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0025302", "xref": ["HP:0025302"], "name": "Chylous ascites"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Chylacites/Chylous effusion", "source_text": "Chylacites/Chylous effusion", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0003270", "xref": ["HP:0003270"], "name": "Chylous pleural effusion"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Chylacites/Chylous effusion", "source_text": "Chylacites/Chylous effusion", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "NCIT:C107587", "xref": ["NCIT:C107587"], "name": "Failure to Thrive"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Failure to thrive", "source_text": "Failure to thrive", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0011471", "xref": ["HP:0011471"], "name": "Gastrostomy tube feeding"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "G tube fed", "source_text": "G tube fed", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001263", "xref": ["HP:0001263"], "name": "Global developmental delay"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Developmental delays (gross motor, fine motor, speech)", "source_text": "Developmental delays (gross motor, fine motor, speech)", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0005045", "xref": ["MONDO:0005045"], "name": "hypertrophic cardiomyopathy"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Hypertrophic cardiomyopathy (with symptoms)", "source_text": "Hypertrophic cardiomyopathy (with symptoms)", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0001824", "xref": ["HP:0001824"], "name": "Poor weight gain"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Difficulty gaining weight", "source_text": "Difficulty gaining weight", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0006521", "xref": ["HP:0006521"], "name": "Pulmonary lymphangiectasia"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Lymphangiectasia - Pulmonary", "source_text": "Lymphangiectasia - Pulmonary", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0004322", "xref": ["HP:0004322"], "name": "Short stature"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Short stature", "source_text": "Short stature", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "HP:0012850", "xref": ["HP:0012850"], "name": "Small intestinal dysmotility"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Gut dysmotility (slow emptying)", "source_text": "Gut dysmotility (slow emptying)", "group": null}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "MONDO:0003432", "xref": ["MONDO:0003432"], "name": "strabismus"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Strabismus", "source_text": "Strabismus", "group": "Opthalmalogic"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "predicate": {"id": "has_phenotype", "label": "has phenotype"}, "phenotype": {"id": "SNOMED:397760009", "xref": ["Unknown:397760009"], "name": "Tympanotomy"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "finding": {"source_value": "Myringotomy", "source_text": "Myringotomy", "group": "Neurologic/Audiologic"}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}