{"Name":"Multiple endocrine neoplasia type 2B","DiseaseID__c":"GARD:0010225","id":10225,"encodedName":"multiple-endocrine-neoplasia-type-2b","IsDeleted":false,"Disease_Name_Full__c":"Multiple endocrine neoplasia type 2B","Xref_IDs__c":"61530001; C0025269; C3227; D018814; DOID:10016; MEDGEN:9959; MONDO:0008082; OMIM:162300; ORPHA:247709","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008082","Disease_Description__c":"A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations.","GARD_Name__c":"Multiple endocrine neoplasia type 2B","GARD_Synonym__c":"men 2b; men 2b - multiple endocrine neoplasia type 2b; men 2b syndrome; men iib; men type 2b; men type iib; men2b; men2b - multiple endocrine neoplasia type 2b; mucosal neuroma syndrome; multiple endocrine adenomatosis type iib; multiple endocrine neoplasia iib; multiple endocrine neoplasia type 3; multiple endocrine neoplasia type iib; multiple endocrine neoplasia type iii; multiple endocrine neoplasia, type 2b; multiple endocrine neoplasia, type 3; multiple endocrine neoplasia, type iib; multiple endocrine neoplasia, type iii; neuromata, mucosal, with endocrine tumors; ret-related multiple endocrine neoplasia type 2b; wagenmann-froboese syndrome","Curated_Disease_Description_Source__c":"GARD:0010225","Curated_Disease_Description__c":"Multiple endocrine neoplasia type 2B (MEN2B) is a genetic disease in which one or more of the endocrine glands are overactive and form a tumor (neoplasia). Common tumors that may be associated with MEN2B include medullary thyroid carcinoma (MTC) and tumors of the adrenal glands called pheochromocytomas. Other features of MEN2B can include having bumps on the lips, eyelids, and tongue. People with MEN2B typically have a body type with long arms, legs, and fingers. They may also have joints that are very loose (hyperextensible). MEN2B is caused by a specific genetic change (pathogenic variant) in the RET gene. The disease is inherited in an autosomal dominant manner. A diagnosis of MEN2B is suspected when a person has a personal or family history of medullary thyroid cancer, pheochromocytoma, or physical findings suggestive of MEN2B. The diagnosis can be confirmed with genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:247709","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008082","ORPHANET_ID__c":"ORPHA:247709","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neoplasia endocrina múltiple tipo 2b","Spanish_Description_Source__c":"ORPHA:247709","Spanish_Description__c":"Es una forma poco común de síndrome de neoplasia endocrina múltiple tipo 2 (MEN2) caracterizada por un carcinoma medular de tiroides agresivo en asociación con otros tumores endocrinos, en particular feocromocitoma (una o ambas glándulas suprarrenales pueden verse afectadas). El inicio suele ser en la lactancia o en la infancia y los pacientes suelen tener una facies típica (neuromas mucosos de los labios y la lengua, y labios abultados), anomalías oftalmológicas (alacrimia en la infancia, párpados engrosados &#8203;&#8203;y evertidos, ptosis leve y nervios corneales prominentes), anomalías esqueléticas (hábito corporal marfanoide, facies alargada y estrecha, pie cavo, pectus excavatum, paladar ojival, escoliosis, articulaciones hiperextensibles y deslizamiento de la epífisis femoral capital ) y una ganglioneuromatosis generalizada en todo el tracto aerodigestivo. El estreñimiento crónico, la distensión abdominal, la diarrea o el megacolon al nacimiento suelen ser las manifestaciones iniciales.","Spanish_Disease_Name__c":"neoplasia endocrina múltiple tipo 2b","Spanish_GARD_Synonym__c":"men2b; nem2b; neoplasia endocrina múltiple tipo 3; síndrome de wagenmann-froboese","Category_Linearization__c":"ORPHA:250908","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":"Multiple endocrine neoplasia type 2B (MEN2B) is a genetic disease in which one or more of the endocrine glands are overactive and form a tumor (neoplasia). Common tumors that may be associated with MEN2B include medullary thyroid carcinoma (MTC) and tumors of the adrenal glands called pheochromocytomas. Other features of MEN2B can include having bumps on the lips, eyelids, and tongue. People with MEN2B typically have a body type with long arms, legs, and fingers. They may also have joints that are very loose (hyperextensible). MEN2B is caused by a specific genetic change (pathogenic variant) in the RET gene. The disease is inherited in an autosomal dominant manner. A diagnosis of MEN2B is suspected when a person has a personal or family history of medullary thyroid cancer, pheochromocytoma, or physical findings suggestive of MEN2B. The diagnosis can be confirmed with genetic testing.","Curated_Disease_Description_Source__c":"GARD:0010225","GARD_Synonym__c":"men 2b; men 2b - multiple endocrine neoplasia type 2b; men 2b syndrome; men iib; men type 2b; men type iib; men2b; men2b - multiple endocrine neoplasia type 2b; mucosal neuroma syndrome; multiple endocrine adenomatosis type iib; multiple endocrine neoplasia iib; multiple endocrine neoplasia type 3; multiple endocrine neoplasia type iib; multiple endocrine neoplasia type iii; multiple endocrine neoplasia, type 2b; multiple endocrine neoplasia, type 3; multiple endocrine neoplasia, type iib; multiple endocrine neoplasia, type iii; neuromata, mucosal, with endocrine tumors; ret-related multiple endocrine neoplasia type 2b; wagenmann-froboese syndrome","Name":"Multiple endocrine neoplasia type 2B","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"International Neuroendocrine Cancer Alliance","Website__c":"https://incalliance.org/"},{"Account_Name__c":"Association for Multiple Endocrine Neoplasia Disorders UK","Website__c":"https://www.amend.org.uk/"},{"Account_Name__c":"Association for Multiple Endocrine Neoplasia Disorders","Website__c":"https://amendusa.org/"},{"Account_Name__c":"Rare Cancers Australia","Website__c":"http://rarecancers.org.au/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:247709"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0025269"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010225","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1257","Source__c":"Gene Review","Xref__c":"NBK1257"},{"URL__c":"https://www.orpha.net/en/disease/detail/247709","Source__c":"C0025269; MONDO:0008082; ORPHA:247709","Xref__c":"ORPHA:247709"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A10016","Source__c":"MONDO:0008082","Xref__c":"DOID:10016"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9959","Source__c":"C0025269","Xref__c":"MEDGEN:9959"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0025269","Source__c":"C0025269","Xref__c":"C0025269"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61530001","Source__c":"C0025269; MONDO:0008082","Xref__c":"61530001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3227","Source__c":"C0025269; MONDO:0008082","Xref__c":"C3227"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018814","Source__c":"C0025269; MONDO:0008082","Xref__c":"D018814"},{"URL__c":"https://www.omim.org/entry/162300","Source__c":"C0025269; MONDO:0008082; ORPHA:247709","Xref__c":"OMIM:162300"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008082","Source__c":"GARD:0010225","Xref__c":"MONDO:0008082"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RET","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ret","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Increased density/number and/or increased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000574","HPO_Synonym__c":"Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows","HPO_Name__c":"Thick eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"The presence of a medullary carcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002865","HPO_Name__c":"Medullary thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003528","HPO_Synonym__c":"Elevated calcitonin","HPO_Name__c":"Elevated circulating calcitonin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003639","HPO_Synonym__c":"Increased urinary epinephrine","HPO_Name__c":"Elevated urinary epinephrine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"The presence of multiple diverticula of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002253","HPO_Synonym__c":"Colonic diverticulosis","HPO_Name__c":"Colonic diverticula","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005994","HPO_Name__c":"Nodular goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002666","HPO_Synonym__c":"Chromaffin tumors","HPO_Name__c":"Pheochromocytoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Hyperplasia of the parathyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008208","HPO_Synonym__c":"Enlarged parathyroid glands","HPO_Name__c":"Parathyroid hyperplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006461","HPO_Synonym__c":"Slipped capital femoral epiphyses; Slipped capital femoral epiphysis; Slipped end part of innermost thighbone","HPO_Name__c":"Proximal femoral epiphysiolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000179","HPO_Synonym__c":"Full lower lip vermilion; Increased height of lower lip vermilion; Increased volume of lower lip; Increased volume of lower lip vermilion; Plump lower lip; Prominent lower lip; Thick vermilion border of lower lip","HPO_Name__c":"Thick lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003005","HPO_Name__c":"Ganglioneuroma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001519","HPO_Synonym__c":"Dolichostenomelia; Marfanoid body habitus; Marfanoid habitus; Reduced upper-lower segment ratio","HPO_Name__c":"Disproportionate tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162300","Feature__r":{"HPO_Description__c":"Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031284","HPO_Name__c":"Flushing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Gastroenterology","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine","Gastroenterology"],"Cause":["Genetics"]},"synonyms":["men 2b"," men 2b - multiple endocrine neoplasia type 2b"," men 2b syndrome"," men iib"," men type 2b"," men type iib"," men2b"," men2b - multiple endocrine neoplasia type 2b"," mucosal neuroma syndrome"," multiple endocrine adenomatosis type iib"," multiple endocrine neoplasia iib"," multiple endocrine neoplasia type 3"," multiple endocrine neoplasia type iib"," multiple endocrine neoplasia type iii"," multiple endocrine neoplasia, type 2b"," multiple endocrine neoplasia, type 3"," multiple endocrine neoplasia, type iib"," multiple endocrine neoplasia, type iii"," neuromata, mucosal, with endocrine tumors"," ret-related multiple endocrine neoplasia type 2b"," wagenmann-froboese syndrome"]}