{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0007037/OMIM:100800","label":"Achondroplasia","mondoId":"MONDO:0007037","onsetQualifier":null,"recordKeys":["027b36207c52f0df9bf4342c9fdf28b0be965a50ed65b1c4957096409acb2541","0f03f8598f6faf5289bafb89c2962368e0ccdc5afc65faa8ed3df2c2e1e834bd","16b3d36b7d03c371a3051902e41d7d4686ce3a5ca982b5334109d6bf39a8b7ce","1e5a191ea1bf57ae283a5f5fb197f3b5999867cd8498875adb8ffdb0d6b2fed8","1f6a9bf0a5ca284767fbc2f1affec384a3b82ba141e527fb109b89407aedfc92","1fcf130131d9cddfa5e29d8d17606dbeb1b6356493ff3ca0947cb988059cb3cf","223dc4b36ba23dac24700f93e14faf13cef04cc1d41ef84c5b245220e1aaa72e","2e0dd862713197d63e4ce9664b1711e8dc0ba56f5096971c076ec70817afab91","30a6b08889d352fb27c5ca12a23541e3031d7aa2986282748489800ecb4f72e3","33c6c7ecf81e4ac48236e3c3071b4d7ba2cfbae390e569f5db571a6319d2e056","36757895ddda8e36fe06b413c0461b78fee578bf24c76672eb520c9cea55326c","3cc3da56da3edb3fa6b50ea33312fd2a31af99268e070f7abf0daa63d1d04ecb","433b798c03d2d40aab24b39c21f9e9b8761b8dd6411d2a5f66b168d3795d6d74","44748d9efdcbce06c872c7f34a775ddd5de87b3bc371d680323bd91e0459d036","44fd34c843138073e9a0dc98aaa686009fc967d146e853b069ed188d24b3851c","4714726819bc7c55d484e9599f4d5ad9da37fe94d9a677e261e943df42829ff2","51317a0c3698ba1b5ed5b933c4ceca917539bdfcb7101eea2b05db9f8b95f152","56b231afe1cd120318c2b788a4b65e8cf73302bfe8b44b4485dc5a641279285d","60dfcdae119f6c66fa4897fb420cee0bd71e1a5f4d88f600acbfa4fb52e79529","6a423c54fa7327e2c52d694bbed617638cc0306511a27b67806f7654792daab8","6eab1b71167a6b0a5c75518e0f6a504fa5f9f9f3fd4b613908f767cf76204640","772b0ee95e4962451b21eda3207ba9a5ffa7f0f281d5c1574d2dcba339bae277","790bd0ef22b10c71d191b8b266d6892ab023d8c317c198c4a6b16152afd9f75f","79764e1a3c9f2413a00393181a44a438025f92bf273968afd293d2fa68d347cc","7df295efb480b1ece99397ad3a1c8c3ea1c5edb46bb7bf5974807ffd3d341ac1","8fac154018260e9ce34f2d051df6f23253edf9eef4638c0e30de286ba107e202","9903b8fa5caf779c9fd5bf44e2847661b94edc28194a2ac13284899b491ae53a","9a5c543a06207257b0601a29bdc2e026a582545a05ab20deaee394aa2c7b7815","a6f7f266db931705aba397d4b574c88802a79289980616bcbff6a4a7c8e446f9","aa98884aabed62b857857decc3285a5c03fcd6bc97ca677d0bb16197ca860da0","afa08b700b2e934d9e69fcad371c35d0199a5bf25cdfb6e1c2546af40d032479","b3f159ad9df24befbb060abecae8ea5ff0f3891ece12974a2e6bd6aa5ed3961c","bf9cf3445c86bf76f5ea6b24ee4a5c95803cb998701dc127b225a8d59da8e0bb","c61e8a8504ded6896032cf478913aa92f0f448f25dcdaa61787de1042cbdc407","ca80d98f63587175b6b7a4f0377c78c28fc52ee7205a51d3cdd7484560e1acce","cb7eee4d4468ea0783865a6e47939d65f62d7fb41fc14983d61525a43ac8f5a5","d9d5edd18a5fdca932d287f0f69a0dbaf7ac57baa29c38280415b432a1c300b8","de4dc0074f442557eb27072e1afce4df715b2beeae761cf2ba5b4d69f8d13a38","e58102eeb065e68a48861c87213a761da445365725be0d4e104c5a3d4013c225","eda021833ae728977434d501f707faabefc5362f5b8d41cdf83a77ecf4c77f07","f087ab9d74b5a6906ebfd1dc5f11baaf36d1638d74bc8c834e6ddb6d27262191","f381cd77b42ba2cc55f93cd2554f203a655c7aec53ec8a4e80abcaf617cd7f2d","fc7d99b416b21890dda2d28624fab2a915705da4b2d9b38eb276e18331e4f27a","fc7e0bc310cf8b3b237f57f09d7cd787950a6b756283cd3d42d9df7a5d54aeef"],"recordQualifiers":{},"scopeLabel":"OMIM:100800","sourceIds":["OMIM:100800"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0007037/ORPHA:15","label":"Achondroplasia","mondoId":"MONDO:0007037","onsetQualifier":null,"recordKeys":["0608e54269b7814abb2df2531605e3d5e307ab7eb124eb10fe0f29872c170d27","066f184008d7376eef1a8908b1265ef3609dd7420c2095f5c9846579e9af1ff0","149751604ad369b5e0964babcd66d0a3dae5a8a561201674935e7be2c0555ff6","24c8526a8847c1874df5368d83089130b7201177a7ff5446dcb33e3f5da67b8d","250b6019d7484352e06a08078b14028feb082d51712ee579294e73629abfc014","2889a08ce6f02d9dc31d07161acb218af7988228fdd5aaa3517c4c9ed912667d","28bbba937a7c7ba848bbceb480634f2e52d0732510fb0cb8800e15a681ee8e0d","2b7105e985fdc683b2f38b45ae8db9a0b9cb3a45762bda1e134271d3689740e2","2d4a1d0a037bd5c513ae40c411c710ddb74ce06e9ee1cb2d167f548c96be3cdd","2df8221d0d475fa52f45d2117e30e72997d3450e657223aa740558af86601d22","335c471459fb38208a550fb4baef215941921a8503b28a1281317154ec7d422e","3a2685eebd7f0b07b1bae6319462f53195471870c3fc6c95e343824b9d60b417","3b9e6287029c2ddc740d6f9089ccf62d03d4354a6a361088d301b3e8e8c406d4","426411fc663f35796d8012e56f9a20a46020419096fc0c20d139a41cec7c855b","45dd054c1497da4a451d957efc4dfbc9faa5a6f5ed0c13f88698c52e1be95492","529ca528e9cd64de0cec096aa3bc01c73d6d0792af7c067eff96ad5f6236d8df","588e31a07f515967b6827b0fd3eb195ad43a08fa217845039bfc46669383f136","626c34e9967d08c7f28973e65a6797b3abd1515dc7745ce87dde3cf2f1827dd6","69c980fef25ccd4f7577fda3166a95eb76c5f75aa72230069ecff8b3454f9fb2","6f76537f16f3aeafc77cf45797c4152ba75bc81b5b2dee01b3cd4e4c258827be","70d86d9d4f1518d2d7863ce9a2a7acd566176e60037220f279107dcf9e024d6a","74800fa2bb16cd199103c4bee9ad218121a4f3361480a83c41ef951a977db2c2","7b6fe83f14447493272c29e7856395d50736fafe04effe77fac1aa86c7cbd96a","87787f54ea2e0fd4f6826b5a2582d31f745a6d81539a6e483b3c08f1336b83c7","87a53a109920c02b9096aaa9063652dab8dfd53be335b4a10da00ce9238dc45e","8b9113831b8d2d21159d64e39d677a520dc3b28c5436b15d0beeee07acd9a750","9fafec6fce6f8d849465b7b49b7ab1ff92b534519b1db4a772e329b881d54163","a04ef32fefadc0f986e919370ee0b51c9bbceb114550534d5ca7ea8da81f145f","aa22418f5d238370d6db2d29a46cd724422f86aafc15760795c547b7a4b00406","ba2842d96b386f0aacdb6d32214ddecae16167de98f8d6cc973465e4c00968fb","bb93ac81af329cffd4a9b003b7802108266bebdd62971c784a87a800ca6d94c8","bdd880dbd1593c114e3a62db4a679019c818573f12218c31853dca5af46463d6","c85d2f1701b87be225240ee152033a056708c6dd29a4cd95e231e3c2ae81257a","d073089a1bf69e359aa4ac4b0a4d71745235ff0c9043853cb0a9d09429d1e5cb","eaeecc67261d6d010127ed7bcccd12bfbf82cde1f13ccfbcae7305c5a89db6d0","ec2876535e553b9ed0c12832592f3118bb7db3e589d63de30ef4428d6069c371","ee819ecc90fceb31d78cebcf05bfc920dd4598b30c5c537e43788283eab1d491","f6617e241aa2f98a2b6ced2d8037957697e6b3e3904be9578ec21485411cc244","f98bfc293ca104a0e42e3437bfdc0e19f3af43c305a419e73b923accdafc1a18"],"recordQualifiers":{},"scopeLabel":"ORPHA:15","sourceIds":["ORPHA:15"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0007037/OMIM:100800","MONDO:0007037/ORPHA:15"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":24,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":83,"sourceGroups":{"omim":19,"orphanet":39,"published":25}},"features":[{"hpoId":"HP:0011867","label":"Abnormal iliac wing morphology","primary":false},{"hpoId":"HP:0000309","label":"Abnormal midface morphology","primary":false},{"hpoId":"HP:0000956","label":"Acanthosis nigricans","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0002979","label":"Bowing of the legs","primary":false},{"hpoId":"HP:0001156","label":"Brachydactyly","primary":false},{"hpoId":"HP:0002512","label":"Brain stem compression","primary":false},{"hpoId":"HP:0010536","label":"Central sleep apnea","primary":false},{"hpoId":"HP:0008445","label":"Cervical spinal canal stenosis","primary":false},{"hpoId":"HP:0000452","label":"Choanal stenosis","primary":false},{"hpoId":"HP:0000405","label":"Conductive hearing impairment","primary":false},{"hpoId":"HP:6000920","label":"Craniocervical junction constriction","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0003498","label":"Disproportionate short stature","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0002980","label":"Femoral bowing","primary":false},{"hpoId":"HP:0003015","label":"Flared metaphysis","primary":false},{"hpoId":"HP:0003180","label":"Flat acetabular roof","primary":false},{"hpoId":"HP:0008947","label":"Floppy infant","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0011452","label":"Functional abnormality of the middle ear","primary":false},{"hpoId":"HP:0002761","label":"Generalized joint hypermobility","primary":false},{"hpoId":"HP:0002970","label":"Genu varum","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0045087","label":"Hip joint hypermobility","primary":false},{"hpoId":"HP:0000238","label":"Hydrocephalus","primary":false},{"hpoId":"HP:0012418","label":"Hypoxemia","primary":false},{"hpoId":"HP:0045086","label":"Knee joint hypermobility","primary":false},{"hpoId":"HP:0002808","label":"Kyphosis","primary":false},{"hpoId":"HP:0009826","label":"Limb undergrowth","primary":false},{"hpoId":"HP:0001377","label":"Limited elbow extension","primary":false},{"hpoId":"HP:0003093","label":"Limited hip extension","primary":false},{"hpoId":"HP:0002938","label":"Lumbar hyperlordosis","primary":false},{"hpoId":"HP:0008414","label":"Lumbar kyphosis in infancy","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0000272","label":"Malar flattening","primary":false},{"hpoId":"HP:0001355","label":"Megalencephaly","primary":false},{"hpoId":"HP:0011800","label":"Midface retrusion","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0003375","label":"Narrow greater sciatic notch","primary":false},{"hpoId":"HP:0008450","label":"Narrow vertebral interpedicular distance","primary":false},{"hpoId":"HP:0008921","label":"Neonatal short-limb short stature","primary":false},{"hpoId":"HP:0001513","label":"Obesity","primary":false},{"hpoId":"HP:0002870","label":"Obstructive sleep apnea","primary":false},{"hpoId":"HP:0000242","label":"Parietal bossing","primary":false},{"hpoId":"HP:0001561","label":"Polyhydramnios","primary":false},{"hpoId":"HP:0001788","label":"Premature rupture of membranes","primary":false},{"hpoId":"HP:0002089","label":"Pulmonary hypoplasia","primary":false},{"hpoId":"HP:0002986","label":"Radial bowing","primary":false},{"hpoId":"HP:0000403","label":"Recurrent otitis media","primary":false},{"hpoId":"HP:0002098","label":"Respiratory distress","primary":false},{"hpoId":"HP:0002091","label":"Restrictive ventilatory defect","primary":false},{"hpoId":"HP:0008905","label":"Rhizomelia","primary":false},{"hpoId":"HP:0004565","label":"Severe platyspondyly","primary":false},{"hpoId":"HP:0100864","label":"Short femoral neck","primary":false},{"hpoId":"HP:0003097","label":"Short femur","primary":false},{"hpoId":"HP:0003026","label":"Short long bone","primary":false},{"hpoId":"HP:0005819","label":"Short middle phalanx of finger","primary":false},{"hpoId":"HP:0003194","label":"Short nasal bridge","primary":false},{"hpoId":"HP:0010241","label":"Short proximal phalanx of finger","primary":false},{"hpoId":"HP:0000773","label":"Short ribs","primary":false},{"hpoId":"HP:0002677","label":"Small foramen magnum","primary":false},{"hpoId":"HP:0003416","label":"Spinal canal stenosis","primary":false},{"hpoId":"HP:0005733","label":"Spinal stenosis with reduced interpedicular distance","primary":false},{"hpoId":"HP:0005257","label":"Thoracic hypoplasia","primary":false},{"hpoId":"HP:0005619","label":"Thoracolumbar kyphosis","primary":false},{"hpoId":"HP:0004060","label":"Trident hand","primary":false},{"hpoId":"HP:0003031","label":"Ulnar bowing","primary":false},{"hpoId":"HP:0002781","label":"Upper airway obstruction","primary":false},{"hpoId":"HP:0000260","label":"Wide anterior fontanel","primary":false}],"ledeHtml":"Achondroplasia is the most common form of short-limbed dwarfism. The word achondroplasia means &quot;without cartilage formation.&quot; Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in people with achondroplasia the problem is not  forming cartilage but  converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.","mondoId":"MONDO:0007037","records":[{"frequencyKind":"reported","key":"027b36207c52f0df9bf4342c9fdf28b0be965a50ed65b1c4957096409acb2541","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002970","is_excluded":false,"label":"Genu varum","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0608e54269b7814abb2df2531605e3d5e307ab7eb124eb10fe0f29872c170d27","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002808","is_excluded":false,"label":"Kyphosis","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"066f184008d7376eef1a8908b1265ef3609dd7420c2095f5c9846579e9af1ff0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009826","is_excluded":false,"label":"Limb undergrowth","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0f03f8598f6faf5289bafb89c2962368e0ccdc5afc65faa8ed3df2c2e1e834bd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005733","is_excluded":false,"label":"Spinal stenosis with reduced interpedicular distance","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"149751604ad369b5e0964babcd66d0a3dae5a8a561201674935e7be2c0555ff6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003194","is_excluded":false,"label":"Short nasal bridge","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"16b3d36b7d03c371a3051902e41d7d4686ce3a5ca982b5334109d6bf39a8b7ce","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004565","is_excluded":false,"label":"Severe platyspondyly","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1e5a191ea1bf57ae283a5f5fb197f3b5999867cd8498875adb8ffdb0d6b2fed8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002512","is_excluded":false,"label":"Brain stem compression","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1f6a9bf0a5ca284767fbc2f1affec384a3b82ba141e527fb109b89407aedfc92","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000452","is_excluded":false,"label":"Choanal stenosis","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1fcf130131d9cddfa5e29d8d17606dbeb1b6356493ff3ca0947cb988059cb3cf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001377","is_excluded":false,"label":"Limited elbow extension","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"223dc4b36ba23dac24700f93e14faf13cef04cc1d41ef84c5b245220e1aaa72e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008414","is_excluded":false,"label":"Lumbar kyphosis in infancy","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"24c8526a8847c1874df5368d83089130b7201177a7ff5446dcb33e3f5da67b8d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"250b6019d7484352e06a08078b14028feb082d51712ee579294e73629abfc014","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000242","is_excluded":false,"label":"Parietal bossing","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2889a08ce6f02d9dc31d07161acb218af7988228fdd5aaa3517c4c9ed912667d","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002091","is_excluded":false,"label":"Restrictive ventilatory defect","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"28bbba937a7c7ba848bbceb480634f2e52d0732510fb0cb8800e15a681ee8e0d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000260","is_excluded":false,"label":"Wide anterior fontanel","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2b7105e985fdc683b2f38b45ae8db9a0b9cb3a45762bda1e134271d3689740e2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005819","is_excluded":false,"label":"Short middle phalanx of finger","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2d4a1d0a037bd5c513ae40c411c710ddb74ce06e9ee1cb2d167f548c96be3cdd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003375","is_excluded":false,"label":"Narrow greater sciatic notch","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2df8221d0d475fa52f45d2117e30e72997d3450e657223aa740558af86601d22","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0045087","is_excluded":false,"label":"Hip joint hypermobility","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2e0dd862713197d63e4ce9664b1711e8dc0ba56f5096971c076ec70817afab91","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"30a6b08889d352fb27c5ca12a23541e3031d7aa2986282748489800ecb4f72e3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"335c471459fb38208a550fb4baef215941921a8503b28a1281317154ec7d422e","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012418","is_excluded":false,"label":"Hypoxemia","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"33c6c7ecf81e4ac48236e3c3071b4d7ba2cfbae390e569f5db571a6319d2e056","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"36757895ddda8e36fe06b413c0461b78fee578bf24c76672eb520c9cea55326c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3a2685eebd7f0b07b1bae6319462f53195471870c3fc6c95e343824b9d60b417","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010241","is_excluded":false,"label":"Short proximal phalanx of finger","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3b9e6287029c2ddc740d6f9089ccf62d03d4354a6a361088d301b3e8e8c406d4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3cc3da56da3edb3fa6b50ea33312fd2a31af99268e070f7abf0daa63d1d04ecb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002979","is_excluded":false,"label":"Bowing of the legs","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"426411fc663f35796d8012e56f9a20a46020419096fc0c20d139a41cec7c855b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003180","is_excluded":false,"label":"Flat acetabular roof","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"433b798c03d2d40aab24b39c21f9e9b8761b8dd6411d2a5f66b168d3795d6d74","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002677","is_excluded":false,"label":"Small foramen magnum","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"44748d9efdcbce06c872c7f34a775ddd5de87b3bc371d680323bd91e0459d036","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0100864","is_excluded":false,"label":"Short femoral neck","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"44fd34c843138073e9a0dc98aaa686009fc967d146e853b069ed188d24b3851c","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"45dd054c1497da4a451d957efc4dfbc9faa5a6f5ed0c13f88698c52e1be95492","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4714726819bc7c55d484e9599f4d5ad9da37fe94d9a677e261e943df42829ff2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"51317a0c3698ba1b5ed5b933c4ceca917539bdfcb7101eea2b05db9f8b95f152","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000272","is_excluded":false,"label":"Malar flattening","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"529ca528e9cd64de0cec096aa3bc01c73d6d0792af7c067eff96ad5f6236d8df","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"56b231afe1cd120318c2b788a4b65e8cf73302bfe8b44b4485dc5a641279285d","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001788","is_excluded":false,"label":"Premature rupture of membranes","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"588e31a07f515967b6827b0fd3eb195ad43a08fa217845039bfc46669383f136","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003026","is_excluded":false,"label":"Short long bone","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"60dfcdae119f6c66fa4897fb420cee0bd71e1a5f4d88f600acbfa4fb52e79529","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002938","is_excluded":false,"label":"Lumbar hyperlordosis","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"626c34e9967d08c7f28973e65a6797b3abd1515dc7745ce87dde3cf2f1827dd6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008445","is_excluded":false,"label":"Cervical spinal canal stenosis","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"69c980fef25ccd4f7577fda3166a95eb76c5f75aa72230069ecff8b3454f9fb2","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003498","is_excluded":false,"label":"Disproportionate short stature","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6a423c54fa7327e2c52d694bbed617638cc0306511a27b67806f7654792daab8","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6eab1b71167a6b0a5c75518e0f6a504fa5f9f9f3fd4b613908f767cf76204640","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008921","is_excluded":false,"label":"Neonatal short-limb short stature","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6f76537f16f3aeafc77cf45797c4152ba75bc81b5b2dee01b3cd4e4c258827be","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005257","is_excluded":false,"label":"Thoracic hypoplasia","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"70d86d9d4f1518d2d7863ce9a2a7acd566176e60037220f279107dcf9e024d6a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002938","is_excluded":false,"label":"Lumbar hyperlordosis","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"74800fa2bb16cd199103c4bee9ad218121a4f3361480a83c41ef951a977db2c2","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001513","is_excluded":false,"label":"Obesity","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"772b0ee95e4962451b21eda3207ba9a5ffa7f0f281d5c1574d2dcba339bae277","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003097","is_excluded":false,"label":"Short femur","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"790bd0ef22b10c71d191b8b266d6892ab023d8c317c198c4a6b16152afd9f75f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"79764e1a3c9f2413a00393181a44a438025f92bf273968afd293d2fa68d347cc","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000403","is_excluded":false,"label":"Recurrent otitis media","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7b6fe83f14447493272c29e7856395d50736fafe04effe77fac1aa86c7cbd96a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7df295efb480b1ece99397ad3a1c8c3ea1c5edb46bb7bf5974807ffd3d341ac1","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002781","is_excluded":false,"label":"Upper airway obstruction","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"87787f54ea2e0fd4f6826b5a2582d31f745a6d81539a6e483b3c08f1336b83c7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002870","is_excluded":false,"label":"Obstructive sleep apnea","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"87a53a109920c02b9096aaa9063652dab8dfd53be335b4a10da00ce9238dc45e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010536","is_excluded":false,"label":"Central sleep apnea","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8b9113831b8d2d21159d64e39d677a520dc3b28c5436b15d0beeee07acd9a750","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008947","is_excluded":false,"label":"Floppy infant","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8fac154018260e9ce34f2d051df6f23253edf9eef4638c0e30de286ba107e202","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003375","is_excluded":false,"label":"Narrow greater sciatic notch","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9903b8fa5caf779c9fd5bf44e2847661b94edc28194a2ac13284899b491ae53a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9a5c543a06207257b0601a29bdc2e026a582545a05ab20deaee394aa2c7b7815","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002089","is_excluded":false,"label":"Pulmonary hypoplasia","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9fafec6fce6f8d849465b7b49b7ab1ff92b534519b1db4a772e329b881d54163","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008905","is_excluded":false,"label":"Rhizomelia","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a04ef32fefadc0f986e919370ee0b51c9bbceb114550534d5ca7ea8da81f145f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005619","is_excluded":false,"label":"Thoracolumbar kyphosis","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a6f7f266db931705aba397d4b574c88802a79289980616bcbff6a4a7c8e446f9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008947","is_excluded":false,"label":"Floppy infant","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"aa22418f5d238370d6db2d29a46cd724422f86aafc15760795c547b7a4b00406","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011867","is_excluded":false,"label":"Abnormal iliac wing morphology","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"aa98884aabed62b857857decc3285a5c03fcd6bc97ca677d0bb16197ca860da0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003093","is_excluded":false,"label":"Limited hip extension","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"afa08b700b2e934d9e69fcad371c35d0199a5bf25cdfb6e1c2546af40d032479","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003031","is_excluded":false,"label":"Ulnar bowing","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b3f159ad9df24befbb060abecae8ea5ff0f3891ece12974a2e6bd6aa5ed3961c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000920","is_excluded":false,"label":"Craniocervical junction constriction","onset_id":null,"reference":"PMID:33103849","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ba2842d96b386f0aacdb6d32214ddecae16167de98f8d6cc973465e4c00968fb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bb93ac81af329cffd4a9b003b7802108266bebdd62971c784a87a800ca6d94c8","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bdd880dbd1593c114e3a62db4a679019c818573f12218c31853dca5af46463d6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000309","is_excluded":false,"label":"Abnormal midface morphology","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bf9cf3445c86bf76f5ea6b24ee4a5c95803cb998701dc127b225a8d59da8e0bb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004060","is_excluded":false,"label":"Trident hand","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c61e8a8504ded6896032cf478913aa92f0f448f25dcdaa61787de1042cbdc407","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002986","is_excluded":false,"label":"Radial bowing","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c85d2f1701b87be225240ee152033a056708c6dd29a4cd95e231e3c2ae81257a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002979","is_excluded":false,"label":"Bowing of the legs","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ca80d98f63587175b6b7a4f0377c78c28fc52ee7205a51d3cdd7484560e1acce","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003015","is_excluded":false,"label":"Flared metaphysis","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cb7eee4d4468ea0783865a6e47939d65f62d7fb41fc14983d61525a43ac8f5a5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002761","is_excluded":false,"label":"Generalized joint hypermobility","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d073089a1bf69e359aa4ac4b0a4d71745235ff0c9043853cb0a9d09429d1e5cb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003416","is_excluded":false,"label":"Spinal canal stenosis","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d9d5edd18a5fdca932d287f0f69a0dbaf7ac57baa29c38280415b432a1c300b8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008450","is_excluded":false,"label":"Narrow vertebral interpedicular distance","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"de4dc0074f442557eb27072e1afce4df715b2beeae761cf2ba5b4d69f8d13a38","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000773","is_excluded":false,"label":"Short ribs","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e58102eeb065e68a48861c87213a761da445365725be0d4e104c5a3d4013c225","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002980","is_excluded":false,"label":"Femoral bowing","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"eaeecc67261d6d010127ed7bcccd12bfbf82cde1f13ccfbcae7305c5a89db6d0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004060","is_excluded":false,"label":"Trident hand","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ec2876535e553b9ed0c12832592f3118bb7db3e589d63de30ef4428d6069c371","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000956","is_excluded":false,"label":"Acanthosis nigricans","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"eda021833ae728977434d501f707faabefc5362f5b8d41cdf83a77ecf4c77f07","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005257","is_excluded":false,"label":"Thoracic hypoplasia","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ee819ecc90fceb31d78cebcf05bfc920dd4598b30c5c537e43788283eab1d491","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011452","is_excluded":false,"label":"Functional abnormality of the middle ear","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f087ab9d74b5a6906ebfd1dc5f11baaf36d1638d74bc8c834e6ddb6d27262191","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001355","is_excluded":false,"label":"Megalencephaly","onset_id":null,"reference":"OMIM:100800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f381cd77b42ba2cc55f93cd2554f203a655c7aec53ec8a4e80abcaf617cd7f2d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f6617e241aa2f98a2b6ced2d8037957697e6b3e3904be9578ec21485411cc244","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001377","is_excluded":false,"label":"Limited elbow extension","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f98bfc293ca104a0e42e3437bfdc0e19f3af43c305a419e73b923accdafc1a18","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:15","disease_name":"Achondroplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0045086","is_excluded":false,"label":"Knee joint hypermobility","onset_id":null,"reference":"ORPHA:15","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fc7d99b416b21890dda2d28624fab2a915705da4b2d9b38eb276e18331e4f27a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008905","is_excluded":false,"label":"Rhizomelia","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fc7e0bc310cf8b3b237f57f09d7cd787950a6b756283cd3d42d9df7a5d54aeef","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:100800","disease_name":"Achondroplasia","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"PMID:16411219","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/achondroplasia\">Achondroplasia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific variants in the FGFR3 gene are responsible for almost all cases of achondroplasia. These variants cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/achondroplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Achondroplasia?"},{"bodyHtml":"<p>All people with achondroplasia have short stature. Without treatment, the average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance.</p><p>Health problems commonly associated with achondroplasia include obesity and recurrent ear infections. People with achondroplasia are generally of normal intelligence. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine (kyphosis) and back pain.</p><p>As affected individuals age, they may experience a potentially serious complication of achondroplasia called spinal stenosis. Spinal stenosis is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis causes with pain, tingling, and weakness in the legs that can make walking difficult. An uncommon but serious complication of achondroplasia in early childhood is stenosis of the hole at the base of the skull where the spinal cord comes out of brain (foramen magnum). This complication can cause compression of the brain stem, which can lead to pauses in breathing during sleep (sleep apnea) or a condition known as hydrocephalus. Hydrocephalus is a buildup of fluid in the brain that can lead to increased head size and related brain abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/achondroplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"achondroplasia","sourceDocuments":[{"name":"Achondroplasia","reviewed":"2023-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:03.320332+00:00","label":"Causes","pageSha256":"ae487a9b35edf765d5e77d4e78e866c76a94ee0fe79eaf86e7349ed1356b7277","sourceUrl":"https://medlineplus.gov/genetics/condition/achondroplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/achondroplasia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Achondroplasia"},"schemaVersion":1}