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.
"},"coverage":{"countRecords":46,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":142,"sourceGroups":{"omim":33,"orphanet":63,"published":46}},"features":[{"hpoId":"HP:0001233","label":"2-3 finger cutaneous syndactyly","primary":false},{"hpoId":"HP:0000682","label":"Abnormal dental enamel morphology","primary":false},{"hpoId":"HP:0011297","label":"Abnormal digit morphology","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0011481","label":"Abnormal lacrimal duct morphology","primary":false},{"hpoId":"HP:0011482","label":"Abnormal lacrimal gland morphology","primary":false},{"hpoId":"HP:0000377","label":"Abnormal pinna morphology","primary":false},{"hpoId":"HP:0010286","label":"Abnormal salivary gland morphology","primary":false},{"hpoId":"HP:0001172","label":"Abnormal thumb morphology","primary":false},{"hpoId":"HP:0000164","label":"Abnormality of the dentition","primary":false},{"hpoId":"HP:0000478","label":"Abnormality of the eye","primary":false},{"hpoId":"HP:0000198","label":"Absence of Stensen duct","primary":false},{"hpoId":"HP:0000561","label":"Absent eyelashes","primary":false},{"hpoId":"HP:0001092","label":"Absent lacrimal punctum","primary":false},{"hpoId":"HP:0009637","label":"Absent proximal phalanx of thumb","primary":false},{"hpoId":"HP:0003974","label":"Absent radius","primary":false},{"hpoId":"HP:0009777","label":"Absent thumb","primary":false},{"hpoId":"HP:0000522","label":"Alacrima","primary":false},{"hpoId":"HP:0000458","label":"Anosmia","primary":false},{"hpoId":"HP:0009740","label":"Aplasia of the parotid gland","primary":false},{"hpoId":"HP:0001369","label":"Arthritis","primary":false},{"hpoId":"HP:0000813","label":"Bicornuate uterus","primary":false},{"hpoId":"HP:0000193","label":"Bifid uvula","primary":false},{"hpoId":"HP:0005707","label":"Bilateral triphalangeal thumbs","primary":false},{"hpoId":"HP:0000337","label":"Broad forehead","primary":false},{"hpoId":"HP:0010055","label":"Broad hallux","primary":false},{"hpoId":"HP:0000670","label":"Carious teeth","primary":false},{"hpoId":"HP:0000453","label":"Choanal atresia","primary":false},{"hpoId":"HP:0030084","label":"Clinodactyly","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0000405","label":"Conductive hearing impairment","primary":false},{"hpoId":"HP:0011065","label":"Conical incisor","primary":false},{"hpoId":"HP:0000698","label":"Conical tooth","primary":false},{"hpoId":"HP:0000509","label":"Conjunctivitis","primary":false},{"hpoId":"HP:0011496","label":"Corneal neovascularization","primary":false},{"hpoId":"HP:0100583","label":"Corneal perforation","primary":false},{"hpoId":"HP:0012804","label":"Corneal ulceration","primary":false},{"hpoId":"HP:0008743","label":"Coronal hypospadias","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0000378","label":"Cupped ear","primary":false},{"hpoId":"HP:0000620","label":"Dacryocystitis","primary":false},{"hpoId":"HP:0012155","label":"Decreased corneal sensation","primary":false},{"hpoId":"HP:0000680","label":"Delayed eruption of primary teeth","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0009942","label":"Duplication of thumb phalanx","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0006297","label":"Enamel hypoplasia","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0009926","label":"Epiphora","primary":false},{"hpoId":"HP:0000565","label":"Esotropia","primary":false},{"hpoId":"HP:0000577","label":"Exotropia","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0006101","label":"Finger syndactyly","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000348","label":"High forehead","primary":false},{"hpoId":"HP:0000126","label":"Hydronephrosis","primary":false},{"hpoId":"HP:0000974","label":"Hyperextensible skin","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0000668","label":"Hypodontia","primary":false},{"hpoId":"HP:0005349","label":"Hypoplasia of the epiglottis","primary":false},{"hpoId":"HP:0007892","label":"Hypoplasia of the lacrimal punctum","primary":false},{"hpoId":"HP:0002984","label":"Hypoplasia of the radius","primary":false},{"hpoId":"HP:0003022","label":"Hypoplasia of the ulna","primary":false},{"hpoId":"HP:0007900","label":"Hypoplastic lacrimal duct","primary":false},{"hpoId":"HP:0011487","label":"Increased corneal thickness","primary":false},{"hpoId":"HP:0001096","label":"Keratoconjunctivitis","primary":false},{"hpoId":"HP:0001097","label":"Keratoconjunctivitis sicca","primary":false},{"hpoId":"HP:0007925","label":"Lacrimal duct aplasia","primary":false},{"hpoId":"HP:0000564","label":"Lacrimal duct atresia","primary":false},{"hpoId":"HP:0007656","label":"Lacrimal gland aplasia","primary":false},{"hpoId":"HP:0007732","label":"Lacrimal gland hypoplasia","primary":false},{"hpoId":"HP:0032107","label":"Limbal stem cell deficiency","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000691","label":"Microdontia","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0008551","label":"Microtia","primary":false},{"hpoId":"HP:0000410","label":"Mixed hearing impairment","primary":false},{"hpoId":"HP:0002164","label":"Nail dysplasia","primary":false},{"hpoId":"HP:0000579","label":"Nasolacrimal duct obstruction","primary":false},{"hpoId":"HP:0009741","label":"Nephrosclerosis","primary":false},{"hpoId":"HP:0012108","label":"Open angle glaucoma","primary":false},{"hpoId":"HP:0000202","label":"Orofacial cleft","primary":false},{"hpoId":"HP:0009944","label":"Partial duplication of thumb phalanx","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0000629","label":"Periorbital fullness","primary":false},{"hpoId":"HP:0100258","label":"Preaxial polydactyly","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0009462","label":"Radial deviation of the 3rd finger","primary":false},{"hpoId":"HP:0000495","label":"Recurrent corneal erosions","primary":false},{"hpoId":"HP:0000104","label":"Renal agenesis","primary":false},{"hpoId":"HP:0000089","label":"Renal hypoplasia","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0009778","label":"Short thumb","primary":false},{"hpoId":"HP:0001245","label":"Small thenar eminence","primary":false},{"hpoId":"HP:0001159","label":"Syndactyly","primary":false},{"hpoId":"HP:0000506","label":"Telecanthus","primary":false},{"hpoId":"HP:0001770","label":"Toe syndactyly","primary":false},{"hpoId":"HP:0001199","label":"Triphalangeal thumb","primary":false},{"hpoId":"HP:0000076","label":"Vesicoureteral reflux","primary":false},{"hpoId":"HP:0000687","label":"Widely spaced teeth","primary":false},{"hpoId":"HP:0000217","label":"Xerostomia","primary":false}],"ledeHtml":"Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).","mondoId":"MONDO:0007872","records":[{"frequencyKind":"range","key":"00ec8d3cc339a36761bb996e3a75c6478b8d7c48842f69d076ad9b3d09dcffb1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"06788fac3cbcae5f7d688e8a8c84ac33042f56c9e561a02bd06ce1ade02c4bae","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011482","is_excluded":false,"label":"Abnormal lacrimal gland morphology","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"075c4e46f9b346ba0281737a045df9bf619b1cd61e197e04d05bfbdf2c3b6b90","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009777","is_excluded":false,"label":"Absent thumb","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"090341fbec60f81bbe2f64588c926f43d1ec29ff1ca9cf4c19e33e19b9789a42","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0007925","is_excluded":false,"label":"Lacrimal duct aplasia","onset_id":null,"reference":"PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"09576f9843c30d1bebf151f0490c02cebf3b23aa33afbf1894d7c82c67643f07","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011481","is_excluded":false,"label":"Abnormal lacrimal duct morphology","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"09d6475b7d7f3e228d7fa1d2ccbc305a4545bce3cb84cfbb654a82caf91d97ff","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000577","is_excluded":false,"label":"Exotropia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0a908574e2b676a9fcac8730b920a40243da72626baf57141152499e2a8a95c6","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0000522","is_excluded":false,"label":"Alacrima","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0d27df0a6bb7a19b50f3743108038165f75029550948b570e2511c45fbd48a72","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"4/7","hpo_id":"HP:0000378","is_excluded":false,"label":"Cupped ear","onset_id":null,"reference":"PMID:16501574;PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0d843371c4100a3d3df8e361111608736913ffd54a3db6653de7fec28b285b4a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0d9891d172adf9777705cf22283687c87938b1802bcceadfff374037d54cdf4e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100258","is_excluded":false,"label":"Preaxial polydactyly","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0da3a698146faea016fe4abff683274338c846a50dda6acd48d1830f24ed8b5a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001092","is_excluded":false,"label":"Absent lacrimal punctum","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"109c671f2016b8ec753aca55cd0f766d49774f8d6e8349686fe10b0878c5458d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001092","is_excluded":false,"label":"Absent lacrimal punctum","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"14f46c0b0e1293371698075ce1bb046f1d403b4e6db4e34c2b39f49e5a684d09","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"15a3135f7478bb0924e0ffd37eb38f54b1ea15ba46de4aba298859238577398b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005707","is_excluded":false,"label":"Bilateral triphalangeal thumbs","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1eb3765d969c526fc5bbb24c004e1582655ebfcd52a6cf1a914fd3ad767ee1c0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000565","is_excluded":false,"label":"Esotropia","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"21395bfde689a5d7929efe062afd9c053f912f67a1ca7f8089a616407058ffc2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0006297","is_excluded":false,"label":"Enamel hypoplasia","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2190f209063547321f5193351714e4bc17995dca761cc7f9aea6fa2091b9473f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007892","is_excluded":false,"label":"Hypoplasia of the lacrimal punctum","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"219cd6601335a7ad0fbbaa32daa1ee5d528312bfa8ea4009240fa9939f419a11","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0005349","is_excluded":false,"label":"Hypoplasia of the epiglottis","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"225285be183eb67e6c179da929c2219a5520bdf888cea7add8ec46a23b40321f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009942","is_excluded":false,"label":"Duplication of thumb phalanx","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2417b203728f3022665bc515e2079ae45cb4d80fb1dc2d826f3469730cd43e95","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006297","is_excluded":false,"label":"Enamel hypoplasia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2726c897c2408d8be42a94f39a08dfda30bdcd3e65d39ac7b4f868b21e2b3109","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000202","is_excluded":false,"label":"Orofacial cleft","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"28a7ba50b405eec403643eebd2525cdf8ba5e6e71d140d626761f43f6f7a2dd1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002984","is_excluded":false,"label":"Hypoplasia of the radius","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"28c26bedb09d394f321d5cd280d1eb899596688771c5b576492c8b0417fc39e5","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000564","is_excluded":false,"label":"Lacrimal duct atresia","onset_id":null,"reference":"PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"28fa2d8e79438e7b9dc808e62aefc6201e20968bfbb95c4b18d93af020085e02","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000687","is_excluded":false,"label":"Widely spaced teeth","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2a49ae996d7b9a8a287875b19395d9191e66872128bc018ed9b8bc5578b12304","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000458","is_excluded":false,"label":"Anosmia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2add39f6d5c0f904a5f877e624fc3615ae8242e559a76e4900338d75a2839dbd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000668","is_excluded":false,"label":"Hypodontia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2afd96f0e03f9d2d8c5f0a1bb3fa5cc722bb711ce07589c99398875be9af3078","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001096","is_excluded":false,"label":"Keratoconjunctivitis","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3238a7d5900c2bed77fb71faac403f58d121ec845b9fb3700d6a752754b3220d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002984","is_excluded":false,"label":"Hypoplasia of the radius","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"33c1d26683ec3fb93b2fd331b33609feb06f31959846414bb58b2de2e5912700","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3538d18bde5fc771c1b29f4c082445dead90c760fd7c4ad6d5404f6ac4821aaf","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001092","is_excluded":false,"label":"Absent lacrimal punctum","onset_id":null,"reference":"PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"354c725fedf77b6fca60523599d1ab6e8386119ca09476db906300ff06fc7557","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000076","is_excluded":false,"label":"Vesicoureteral reflux","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"36e9861ff21cb04651ba6e6d418070100545a657cce2ee4c3b1934b628877210","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000509","is_excluded":false,"label":"Conjunctivitis","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"38860aea415313fbf9fe7c9bcf466a9ca161fcce67c2ec14a46bdfa340992c16","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000620","is_excluded":false,"label":"Dacryocystitis","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"38da3b754daa553b946dd8da71780d9854b448701a7f701f192e24f89bf9af35","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0000378","is_excluded":false,"label":"Cupped ear","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3c971f9dfb4a21557181420acb6d356c5e617db850195f6980e4aecc456ff23b","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:16501574;PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3cab79f0d484412a820d4399b5ff26d7dfec37a33511b8ae54e81babb58cb140","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0012108","is_excluded":false,"label":"Open angle glaucoma","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3ece4c6ebd581a098b70be84d4d67728bc481801d4634d17002cb84681262084","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3edb1f29211ce20fbf9d5bc73ac2f0e02e8be1f2f79564d086b2e24524bc4c97","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"40a921fb9857a95b93096a7140a2ba2fb596b6d46cde3d539ad35b790f43d534","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011496","is_excluded":false,"label":"Corneal neovascularization","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"459e69e2f9b291489863f344e07eecbd185897352759225aa252f3069d866952","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000478","is_excluded":false,"label":"Abnormality of the eye","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4abdc6f525e8604a0a1c80f4793be79d4024b97548a796304494a3b89344b2ce","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4ace5815867d83d41189450239b483a4ed71e6b8772425daeafa1f74c5e24f7f","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0011487","is_excluded":false,"label":"Increased corneal thickness","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4b05b7cc56a68473f7f1126769bc9fb7565d4b3aff53b7971739c2e0e1b64732","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001199","is_excluded":false,"label":"Triphalangeal thumb","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4f644ea035a9d3211d68ecd467c82abd79cc4671f1f5f7c7c5814c85be71c12f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011297","is_excluded":false,"label":"Abnormal digit morphology","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4fe8c599991f965d3e874f5a25ac110622093182162a7ae6e09b008783ff6bce","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009637","is_excluded":false,"label":"Absent proximal phalanx of thumb","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"51e82f3294879a64e0d3daab24a3f42f76949dd38090c9f27f709a5c2cda2d21","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008743","is_excluded":false,"label":"Coronal hypospadias","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"52352455692e6ad261ca42454ba63dc490f8e3421f7e2b10c11849d162808346","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"53638816a70d3bf60c67681b74b0d985555575ad93cf620e672d9c41d9f0ac14","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000561","is_excluded":false,"label":"Absent eyelashes","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5509a52af0d5d660deb2cd5740e553f00ded0d63865554d2e36ba7a0d086d439","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003974","is_excluded":false,"label":"Absent radius","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"577ce3e6f17baf6746278f874a1a3ba4852390b0d36e942f6412f5e651344492","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0001092","is_excluded":false,"label":"Absent lacrimal punctum","onset_id":null,"reference":"PMID:16501574;PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"595d960bfdfeffff73c44d19b7ba69b4b28f0a5ad9c6d7600a2ec2421779ad68","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001233","is_excluded":false,"label":"2-3 finger cutaneous syndactyly","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5a38662f6a9918bcf5e0a003741ab4deb66401292bac1f6dcd99cab2711a8d43","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000104","is_excluded":false,"label":"Renal agenesis","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5b88d61832148194d2e395fe6d73d3e1efa017435207c3d2c9aadc69216d8b17","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000579","is_excluded":false,"label":"Nasolacrimal duct obstruction","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"5c3c2290c32bc39198b7b54d08ab80e3af62ca21a869e0b57206a1877f18507b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0000668","is_excluded":false,"label":"Hypodontia","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5e9c598d6d2dc3dfbcd1f63bd220a753e77e26077c9c0fddaa764cee1d21a0aa","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000337","is_excluded":false,"label":"Broad forehead","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5eb6506b9da078758df1574a40ce2dc7c0d4163d9b1b96b3ab893de26fe06a51","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012155","is_excluded":false,"label":"Decreased corneal sensation","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5efe7a8fc06ecb8ae662caa114f30dc533c41023ef76ab8f3ac8ae4fc8cdfecd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0000670","is_excluded":false,"label":"Carious teeth","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5f6822f23a0aac3629b728d95eef5eee7d13e198b37b533fe002244d22004c2f","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5f7acfd38f04f1fb9ea5a7646a664452b7b60328723714400b3a6ae56389de24","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007925","is_excluded":false,"label":"Lacrimal duct aplasia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6228a3b465d33ccb55d67bc2399ed8802097fde9727ca01937a4f9dfd6840d9c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000691","is_excluded":false,"label":"Microdontia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"62e704ff304ea39f83141e0fbcdb8692dca811750ec540ff731a1bd2f0dc3c97","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"680fb5a2f4acf71100c8ce40622e696fac87130801f2e65271ca0c0c430ce07f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"8/9","hpo_id":"HP:0007925","is_excluded":false,"label":"Lacrimal duct aplasia","onset_id":null,"reference":"PMID:16501574;PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6950544def4593581df11a94fd1a424e73e5e547997de199a1a3da1cea6360a9","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"0/3","hpo_id":"HP:0000365","is_excluded":true,"label":"Hearing impairment","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"69c9222f12e12a235bc602a431d832d215f9d8c96adade8ba6052cf5bf743e1e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0000691","is_excluded":false,"label":"Microdontia","onset_id":null,"reference":"PMID:16501574;PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6b5ccfbf42a4d1af398e60143520d1d88246f353ccd6d79e3a1fa867fa8dd13c","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000378","is_excluded":false,"label":"Cupped ear","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6d3b54f8e1be387c3763c44968062e1dbd4917340c5264239f49b65afcca8f61","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6df6525c96f14edd82fa1c1c4c677634aa91c5faac55437ef300ebd4875f82e4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000193","is_excluded":false,"label":"Bifid uvula","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"70483679c0bb0e1e7b6b69f64cec17609911241353ecdeef50b2e1623ed4cf09","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7150caf17646c68a5bd1c07648732ed6e5ecb621ed13536518a1d1b47d9468e7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000217","is_excluded":false,"label":"Xerostomia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"71a02fd0e912ada68e07e9c9688d251ef6c6d1635a91c45d1c9cf1d97de66ea3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000495","is_excluded":false,"label":"Recurrent corneal erosions","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"74729a497908ec5a36877573b6342827045dc2f358ac7cd86c29aba2ccc80ae6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"11/14","hpo_id":"HP:0009944","is_excluded":false,"label":"Partial duplication of thumb phalanx","onset_id":null,"reference":"OMIM:149730;PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7515fd78e653edae05b6dcf6e2bf31e8e6feca769ea4b7a63447ac91c4795a1e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000089","is_excluded":false,"label":"Renal hypoplasia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7c0f3766244ab8d1ae4cb145211c9972037346a2b099df73a16e0ed5e682571a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0000670","is_excluded":false,"label":"Carious teeth","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7cb001178522cbd58ef238423156a3246001ec628dc278b6f5c2fe1ee393fb9c","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7cf70ee866be65bdb4a96883856512b9beee56c44447efa274bd7f67983b7da4","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7f3f3d093b44604dbd58ef3f203a2ab92b867487f740a675df671b534210eade","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012804","is_excluded":false,"label":"Corneal ulceration","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7f827a4792b003ade52caa74d64f3d0811116a528b80f63c228b8c140bfff439","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007656","is_excluded":false,"label":"Lacrimal gland aplasia","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"81aa9faebe8fcd67632c798a734ffd4cac47a5b308aa3dbe28bcf0915628d342","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000410","is_excluded":false,"label":"Mixed hearing impairment","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"83144bb9ebbab5b4487da31a6cf198daa4d856290cbcb00fe9b21ee33762496e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000682","is_excluded":false,"label":"Abnormal dental enamel morphology","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"852011a6ef779111bdc97839cbc1fb5e5307c2cdad1e45aaaae4a819bfd5474a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007892","is_excluded":false,"label":"Hypoplasia of the lacrimal punctum","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8702f16a53771161b35282c6a33a94e49e6d2d91cca86d08f1998c4f12defb66","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"874a6b52304436ea346f1128c884e877a4762ad9070a1c18f61206eacddf905b","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8843754e763aeec5e0365b8af11e33127c75b7d76e0c0a09ffe6d429760db41e","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0000378","is_excluded":false,"label":"Cupped ear","onset_id":null,"reference":"PMID:16501574;PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8af38dea50c5d609c5a1a61985dfa473ec7f71c3c634946471d5f4406626959c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007900","is_excluded":false,"label":"Hypoplastic lacrimal duct","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8b37d211ba9e793c684478a116fab2de2da993581c0c081e653e425659f551fd","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0100583","is_excluded":false,"label":"Corneal perforation","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8c1c43df61437c8dcff4e59ae1dc5ec289bc01b8839b503184831c0ebbd117ec","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0000522","is_excluded":false,"label":"Alacrima","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8c4042eb38ba8ff5d20113905632100f4ff71e57dd524493573010adeb73ae59","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000495","is_excluded":false,"label":"Recurrent corneal erosions","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8d1d596eef907d719024e858163f6cfb0dab8bcbda4e1c18df36a9869b8ea115","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010055","is_excluded":false,"label":"Broad hallux","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8ecd2afc399d313851fd4dc2db19d12449fda94ba1eef24c45c0ab0139502ac0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000522","is_excluded":false,"label":"Alacrima","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8f5125b6c3e2756973e92eff2dfc92df62baf414f95d8df5a48fda8b4133faf1","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0032107","is_excluded":false,"label":"Limbal stem cell deficiency","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"92612bce42edd4b740403d69d457bd298c75f70eaadbcc5687c4ebb035ca7eb4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001097","is_excluded":false,"label":"Keratoconjunctivitis sicca","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"960e274bc5f9a259f3e7f7c0a7006fbf2f6e8b0d7a1501ad913c289618106d1b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0000509","is_excluded":false,"label":"Conjunctivitis","onset_id":null,"reference":"PMID:16501574;PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"968b1f3af361a864adfd97ea33cd43b2efec10260597c9d9604217b13651ffca","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010286","is_excluded":false,"label":"Abnormal salivary gland morphology","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9d07eee21d0b18f939f6871c416edcdc6ef080c9fef5461037a7a8b037298b19","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9ed3d59519ee60f63d328ad0bc69907097bb332bc9969f0f9cfdeeb13e58c540","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000813","is_excluded":false,"label":"Bicornuate uterus","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a61d6336ea70c5067897c7ad476f848e41320f0ff250673b126d1abc0bf982f7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0011065","is_excluded":false,"label":"Conical incisor","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a6470d1b5191c3a124f8df8ab796f9be2c501efbb89522704c5536c6ab736dea","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000680","is_excluded":false,"label":"Delayed eruption of primary teeth","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a676526fbd1779ed2e8f9db0cdd2d1a57144a15d40dbd123a28e06ee0549bbe5","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009926","is_excluded":false,"label":"Epiphora","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a6a53b72852273683dff4f604cecbe8a3fc772bcb153fdbb33b15cb498b8260e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0000668","is_excluded":false,"label":"Hypodontia","onset_id":null,"reference":"PMID:16501574;PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"aacd5d29cb3e49acddb8a924743fe2be9f5f96ad6f75ec165c8ad52787cf8f84","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001770","is_excluded":false,"label":"Toe syndactyly","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ac19b81ea1bcfe163a8e6dd5e8c83b0219bf7d64d1224f7a57765eeb7f430d3c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0009778","is_excluded":false,"label":"Short thumb","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ae3f97209bd9cdff5bb2248019c2bd1970edc2c1a1bf1f6d297c8b26deb2f4ce","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ae84a33f66caf47138e16a712c38839945ab8ca1282715607f25ee8190f46a9e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"af63f408dc01a81f60cb528dbd97fde1861edb21f8ada95099c0eb7c228c4e54","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000974","is_excluded":false,"label":"Hyperextensible skin","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"afb82391eceddd98bb6dcb8196e8c00da369c333163d277663eb37b9f716eaca","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0000691","is_excluded":false,"label":"Microdontia","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b0150e96eb5baa34efcb247e11cccce9fb79cbb5513db07dbab1a14f865b492b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000217","is_excluded":false,"label":"Xerostomia","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b3c09110478233399ac7cfb4c8b46ab3003c4260915325b9f0d945e28d8d4b17","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000670","is_excluded":false,"label":"Carious teeth","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b56dfa27f337c33d1b7b1efb67599ccfa9cd393e314c2e98bef49be771553dfa","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001245","is_excluded":false,"label":"Small thenar eminence","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ba8a01baf609bef29ae7a21eaa984b5fa99514df8e3c225d99f2bd6a4532b183","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000453","is_excluded":false,"label":"Choanal atresia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bade269ba533661279261f3dd4efcd619596a6c46ba0eeaac7015ba8f8472e07","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001172","is_excluded":false,"label":"Abnormal thumb morphology","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bb6ebf0c172f00a6535b2af3810816b1d3459aaf186f4abeab15e6672f3eb0f4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0003022","is_excluded":false,"label":"Hypoplasia of the ulna","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bbed59e26a241577905a56fa6269bf44cc40bbbf1324d0efe3ce49a879a9ed8a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"0/3","hpo_id":"HP:0001172","is_excluded":true,"label":"Abnormal thumb morphology","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bfce7e0055e5b27203708c9fba539c15d32e7e9bcbce0a4ce97b444633ad0295","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007732","is_excluded":false,"label":"Lacrimal gland hypoplasia","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c361335f52fce5b9855b8139d80c607055178fff992bbd7651e513bf086b6077","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000698","is_excluded":false,"label":"Conical tooth","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c4c841b7acadd9844386d75daffd32640cbbb8ac270faee8428fb2f567eebb3e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0009942","is_excluded":false,"label":"Duplication of thumb phalanx","onset_id":null,"reference":"PMID:28483234","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c619282aee5e879f46a94e0d5505fa925a63e972a2bbbabcda86d25e480821a4","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002164","is_excluded":false,"label":"Nail dysplasia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cad47858e847984ed5099e0ae5d380f207b8896b00f36cc91de23bc3ef6f1ddd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009778","is_excluded":false,"label":"Short thumb","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ccb96f7a536cec692b8cd2617e4e6791806a6cfc903045e2bfa1ee0cfc0ccd1e","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000377","is_excluded":false,"label":"Abnormal pinna morphology","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cf16128ecea8fbb7cc95f1e45e91fa92e871204b5408b62af98c6c4b32d929a1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620192","disease_name":"Lacrimoauriculodentodigital syndrome-2","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000670","is_excluded":false,"label":"Carious teeth","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d02d447842339d86f67d0857885c1929bf010dd07485a8167c2b6e4ea7f8d7c3","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d081492ca214027ce5fdf9fc946f862d37c127d95e2a27b2046be727139373f7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0009462","is_excluded":false,"label":"Radial deviation of the 3rd finger","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d0831546abc95542d7749e075b93ab59145a9eeb1ab36df48da55a82cf512941","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000629","is_excluded":false,"label":"Periorbital fullness","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d210d5bb48104115ba7420e287128ca5239912394e57917e20833ccf53cf27f8","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d3df8cb7eb75742173467fafe753a892be4914791a0359279968472da6c5863d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d4848be1cf13a7ba2f2bb3dc50cec4c82af53e96ed3d1b1886c3353149fa8544","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006101","is_excluded":false,"label":"Finger syndactyly","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"da1219b21cec787894513f9a73a3b2540a5d6c03bebecf1b3b85238886b4de01","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009740","is_excluded":false,"label":"Aplasia of the parotid gland","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"da2b4415427da41477b0eb58f8b8d7d836581f01e01a9b9c43131a8f04d90e34","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000164","is_excluded":false,"label":"Abnormality of the dentition","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"db38172bf4ec2f1cca7432d028b928071c4561dfb248ea4627b0fb0e047fab6e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"dbf9a8566ffdd67ed2b69258202b74e19b7ac2f4315e978167d74bbad095ba38","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000348","is_excluded":false,"label":"High forehead","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"dc7efecfd211a25f20c1de7ec6f9f4f264022ab0f40956826f36734e68e3dde4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000217","is_excluded":false,"label":"Xerostomia","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ddfa91f03c8d3b1a16ddb9c714d428e3473bd43c944c04aab3edb974345d194f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001369","is_excluded":false,"label":"Arthritis","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e187a5cf67366306e4c8fbd221e8d6a748bb11876fc6f57a6aff3e7bb68b8e65","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000410","is_excluded":false,"label":"Mixed hearing impairment","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e193a3dde6563b74438c9263c5459bb7d809ae2357b9002a6f525973bf678c95","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007656","is_excluded":false,"label":"Lacrimal gland aplasia","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e4153122a76b58207a87b59208a8816de826e452da18b2bbcc67f32dd7b7f101","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0009944","is_excluded":false,"label":"Partial duplication of thumb phalanx","onset_id":null,"reference":"PMID:16501574","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e6ca769544a01a6e930bc51e8c81735735253f8499c25928060db88fb5b56bbc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000198","is_excluded":false,"label":"Absence of Stensen duct","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"eb0ed030741a5760f4d91a55bc88d0414083d8632dc370f90b8f699bb93ffd91","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030084","is_excluded":false,"label":"Clinodactyly","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ebe90bb358f79eba6d29e2d15d3f783345429e3eefd9ed63a7d9973c283d94b3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006297","is_excluded":false,"label":"Enamel hypoplasia","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"eda270646b006b8553b22e192b714ed9e798e8fde373fb4f50f8838cd17c33f2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620193","disease_name":"Lacrimoauriculodentodigital syndrome-3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0009778","is_excluded":false,"label":"Short thumb","onset_id":null,"reference":"PMID:16630169","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f1b4638d380f300ff85ef2f5e41980c65b4063330c0bccd450c5a7f371bcfe8b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f24e853b5c4b5a4f20b27d52776518eda1804604e60dddc1697348482d7ccfc3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:149730","disease_name":"Lacrimoauriculodentodigital syndrome-1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009741","is_excluded":false,"label":"Nephrosclerosis","onset_id":null,"reference":"OMIM:149730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fb8f15e3143825c81a6fbad94890d9b80b58abc1a6a8d9274315806c4288c5ee","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001159","is_excluded":false,"label":"Syndactyly","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fee19542a21e5305936dab291d1e40edd548bbe91610af37155ccf90250b731c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2363","disease_name":"Lacrimoauriculodentodigital syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0032107","is_excluded":false,"label":"Limbal stem cell deficiency","onset_id":null,"reference":"ORPHA:2363","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Mutations in the FGFR2, FGFR3, or FGF10 gene can cause LADD syndrome.
The FGFR2 and FGFR3 genes provide instructions for making proteins that are part of a family called fibroblast growth factor receptors. The FGF10 gene provides instructions for making a protein called a fibroblast growth factor, which is a family of proteins that attaches (binds) to fibroblast growth factor receptors. The receptors are located within the membranes of cells, where they receive signals that control growth and development from growth factors outside the cell. The signals triggered by the FGFR2, FGFR3, and FGF10 genes appear to stimulate cells to form the structures that make up the lacrimal glands, salivary glands, ears, skeleton, and many other organs.
Mutations in the FGFR2, FGFR3, or FGF10 gene alter the proteins produced from these genes and disrupt the signaling within cells. As a result, cell maturation and development is impaired and the formation of many tissues is affected, leading to the signs and symptoms of LADD syndrome.
","key":"forms","title":"What causes Lacrimo-auriculo-dento-digital syndrome?"},{"bodyHtml":"The lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears.
Ears that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss).
People with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors).
Hand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement.
People with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"lacrimo-auriculo-dento-digital-syndrome","sourceDocuments":[{"name":"Lacrimo-auriculo-dento-digital syndrome","reviewed":"2013-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:46.276193+00:00","label":"Causes","pageSha256":"01e7a71e1ca5677288c763e23383f1d8b3a6d8a3da65345b6549366e8f8b0472","sourceUrl":"https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome"}],"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":"Lacrimo-auriculo-dento-digital syndrome"},"schemaVersion":1}