{"Name":"Campomelia, Cumming type","DiseaseID__c":"GARD:0001061","id":1061,"encodedName":"campomelia-cumming-type","IsDeleted":false,"Disease_Name_Full__c":"Campomelia, Cumming type","Xref_IDs__c":"720599002; C1859371; C537966; MEDGEN:347864; MONDO:0008896; OMIM:211890; ORPHA:1318","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008896","Disease_Description__c":"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.","GARD_Name__c":"Campomelia, Cumming type","GARD_Synonym__c":"campomelia cumming type; cervical lymphocele with bowed long bones; cumming syndrome","Curated_Disease_Description_Source__c":"MONDO:0008896","Curated_Disease_Description__c":"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1318","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008896","ORPHANET_ID__c":"ORPHA:1318","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Campomelia tipo cumming","Spanish_Description_Source__c":"ORPHA:1318","Spanish_Description__c":"La campomelia tipo Cumming está caracterizada por la asociación de defectos de las extremidades y anomalías multiviscerales.","Spanish_Disease_Name__c":"campomelia tipo cumming","Spanish_GARD_Synonym__c":"síndrome de cumming","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.","Curated_Disease_Description_Source__c":"MONDO:0008896","GARD_Synonym__c":"campomelia cumming type; cervical lymphocele with bowed long bones; cumming syndrome","Name":"Campomelia, Cumming type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1318"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1318"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720599002","Source__c":"C1859371; MONDO:0008896","Xref__c":"720599002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537966","Source__c":"MONDO:0008896","Xref__c":"C537966"},{"URL__c":"https://www.omim.org/entry/211890","Source__c":"C1859371; MONDO:0008896; ORPHA:1318","Xref__c":"OMIM:211890"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347864","Source__c":"C1859371","Xref__c":"MEDGEN:347864"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859371","Source__c":"C1859371","Xref__c":"C1859371"},{"URL__c":"https://www.orpha.net/en/disease/detail/1318","Source__c":"C1859371; MONDO:0008896; ORPHA:1318","Xref__c":"ORPHA:1318"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008896","Source__c":"GARD:0001061","Xref__c":"MONDO:0008896"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002242","HPO_Synonym__c":"Abnormality of the intestine; Enteropathy","HPO_Name__c":"Abnormal intestine morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the formation and mineralization of one or more vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100569","HPO_Synonym__c":"Abnormal bone maturation of vertebra; Abnormal vertebral ossification; Abnormality of ossification/mineralisation of vertebrae","HPO_Name__c":"Abnormally ossified vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cystic lymphatic lesion of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000476","HPO_Synonym__c":"Cystic hygroma of the neck","HPO_Name__c":"Cystic hygroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the toes (distal phalanges of the toes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100760","HPO_Name__c":"Clubbing of toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001732","HPO_Synonym__c":"Abnormality of the pancreas","HPO_Name__c":"Abnormality of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007495","HPO_Synonym__c":"Precociously senile appearance; Prematurely aged appearance","HPO_Name__c":"Prematurely aged appearance","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010781","HPO_Synonym__c":"Skin dimples","HPO_Name__c":"Skin dimple","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001789","HPO_Name__c":"Hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005562","HPO_Synonym__c":"Multiple kidney cysts","HPO_Name__c":"Multiple renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008056","HPO_Synonym__c":"Absent/small eye; Absent/underdeveloped eye","HPO_Name__c":"Aplasia/Hypoplasia affecting the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000765","HPO_Synonym__c":"Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall","HPO_Name__c":"Abnormal thorax morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cyst of the pancreas that possess a lining of mucous epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001737","HPO_Synonym__c":"Pancreatic cysts","HPO_Name__c":"Pancreatic cysts","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["campomelia cumming type"," cervical lymphocele with bowed long bones"," cumming syndrome"]}