omim = {'omim': { 
'version': '1.0',
'searchResponse': { 
'search': '*', 
'expandedSearch': '*:*', 
'parsedSearch': '+*:* ()', 
'searchSuggestion': None, 
'searchSpelling': None, 
'filter': '', 
'expandedFilter': None, 
'fields': '', 
'searchReport': None, 
'totalResults': 7368, 
'startIndex': 6200, 
'endIndex': 6219, 
'sort': '', 
'operator': '', 
'searchTime': 3.0, 
'clinicalSynopsisList': [ 
{'clinicalSynopsis': { 
'mimNumber': 613364, 
'prefix': '%', 
'preferredTitle': 'SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'genitourinaryBladder': 'Urinary urgency {SNOMEDCT:75088002} {ICD10CM:R39.15} {ICD9CM:788.63} {UMLS C4553976,C0085606 HP:0000012} {HPO HP:0000012 C0085606,C3544092,C4020898}', 
'muscleSoftTissue': 'Mild weakness of the small hand muscles {UMLS C3278778}', 
'neurologicCentralNervousSystem': '''Spastic paraplegia {SNOMEDCT:192967009} {UMLS C0037772 HP:0001258} {HPO HP:0001258 C0037772};\nSpastic gait {SNOMEDCT:9447003} {ICD10CM:R26.1} {UMLS C0231687 HP:0002064} {HPO HP:0002064 C0231687};\nLower limb muscle weakness, proximal {UMLS C1866010 HP:0008994};\nHyperreflexia {SNOMEDCT:86854008} {UMLS C0151889 HP:0001347} {HPO HP:0001347 C0151889}''', 
'miscellaneous': '''Average age at onset 16.6 years {UMLS C3278779};\nOne 4-generation Chinese family has been reported (as of 04/2010) {UMLS C3278780}''', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': True, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': True, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': False, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613307, 
'prefix': '#', 
'preferredTitle': 'DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'headAndNeckEars': 'Hearing loss, sensorineural, progressive (severe to profound) {UMLS C4229862} {HPO HP:0000408 C1843156}', 
'miscellaneous': '''Dutch, Pakistani, and Moroccan families have been described {UMLS C4229860};\nOnset of hearing loss in first decade of life {UMLS C4229859}''', 
'molecularBasis': 'Caused by mutation in the taperin gene (TPRN, {613354.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': True, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613308, 
'prefix': '#', 
'preferredTitle': 'DIAMOND-BLACKFAN ANEMIA 9; DBA9', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'growthOther': 'Growth retardation {SNOMEDCT:59576002,444896005} {UMLS C0151686 HP:0001510} {HPO HP:0001510 C0151686,C0456070,C0878787,C1837385,C3552463}', 
'headAndNeckFace': 'Cathie facies {UMLS C4314925}', 
'headAndNeckNeck': 'Webbed neck (rare) {UMLS C3554266} {HPO HP:0000465 C0221217}', 
'hematology': 'Anemia {SNOMEDCT:271737000} {ICD10CM:D64.9} {ICD9CM:285.9} {UMLS C0002871,C4554633,C1000483 HP:0001903} {HPO HP:0001903 C0002871,C0162119}', 
'laboratoryAbnormalities': 'Vitamin D deficiency {SNOMEDCT:34713006} {ICD10CM:E55,E55.9} {ICD9CM:268,268.9} {UMLS C0042870 HP:0100512} {HPO HP:0100512 C0042870}', 
'miscellaneous': '''Some patients are steroid responsive {UMLS C4314939};\nAge at diagnosis ranged from birth to 12 years {UMLS C4314844};\nLimited clinical information provided {UMLS C4230773}''', 
'molecularBasis': 'Caused by mutation in ribosomal protein S10 (RPS10, {603632.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': True, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': True, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': True, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613309, 
'prefix': '#', 
'preferredTitle': 'DIAMOND-BLACKFAN ANEMIA 10; DBA10', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'growthHeight': 'Short stature (in some patients) {UMLS C2751301} {HPO HP:0004322 C0349588}', 
'growthOther': 'Poor growth (in some patients) {UMLS C3280954} {HPO HP:0001510 C0151686,C0456070,C0878787,C1837385,C3552463}', 
'headAndNeckFace': '''Mandibulofacial dysostosis (in some patients) {UMLS C4229856} {HPO HP:0005321 C0242387};\nMicrognathia (in some patients) {UMLS C3277936} {HPO HP:0000347 C0025990,C0240295,C1857130} {EOM ID:8bbf61b4ad7ca2ef IMG:Micrognathia-small.jpg};\nMalar hypoplasia (in some patients) {UMLS C4229855} {HPO HP:0000272 C1858085,C4280651} {EOM ID:81db216382f501fc IMG:Malar_Flattening-small.jpg}''', 
'headAndNeckEars': '''Microtia (in some patients) {UMLS C4229854} {HPO HP:0008551 C0152423};\nExternal auditory canal atresia (in some patients) {UMLS C4229853} {HPO HP:0000413 C1398325,C1840305,C1857079,C1866190};\nLow-set ears (in some patients) {UMLS C3553628} {HPO HP:0000369 C0239234};\nPosteriorly rotated ears (in some patients) {UMLS C3550632} {HPO HP:0000358 C0431478};\nConductive hearing loss (in some patients) {UMLS C3276776} {HPO HP:0000405 C0018777}''', 
'headAndNeckNose': 'Choanal atresia (in some patients) {UMLS C3552333} {HPO HP:0000453 C0008297}', 
'headAndNeckMouth': 'Cleft palate (in some patients) {UMLS C3275332} {HPO HP:0000175 C0008925,C2981150}', 
'headAndNeckNeck': 'Wide neck (in some patients) {UMLS C4229852} {HPO HP:0000475 C1853638} {EOM ID:1f45b748bb5aa8fe IMG:Neck,Broad-small.jpg}', 
'cardiovascularHeart': 'Ventricular septal defect (in some patients) {UMLS C1843489} {HPO HP:0001629 C0018818}', 
'cardiovascularVascular': 'Patent ductus arteriosus (in some patients) {UMLS C3280787} {HPO HP:0001643 C0013274}', 
'respiratory': 'Respiratory difficulties (in some patients) {UMLS C4227383} {HPO HP:0002098 C0013404,C0476273}', 
'chestDiaphragm': 'Diaphragmatic hernia (in some patients) {UMLS C3278412} {HPO HP:0000776 C0235833}', 
'genitourinaryKidneys': '''Duplicated kidney (in some patients) {UMLS C4229858};\nRenal ectopia (in some patients) {UMLS C4229857} {HPO HP:0000086 C0238207}''', 
'hematology': '''Macrocytic anemia {SNOMEDCT:83414005} {UMLS C1420653,C0002886 HP:0001972} {HPO HP:0001972 C0002886};\nIncreased fetal hemoglobin {UMLS C0239941 HP:0011904};\nIncreased erythrocyte adenosine deaminase activity {UMLS C4230444};\nReticulocytopenia {SNOMEDCT:124961001} {UMLS C0858867 HP:0001896} {HPO HP:0001896 C0858867};\nBone marrow shows decreased erythroid progenitors {UMLS C4229851}''', 
'miscellaneous': '''Onset in infancy {UMLS C1848924 HP:0003593} {HPO HP:0003593 C1848924};\nVariable expressivity, even within families {UMLS C4229849}''', 
'molecularBasis': 'Caused by mutation in the ribosomal protein S26 gene (RPS26, {603701.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': False, 
'growthOtherExists': True, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': True, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': True, 
'headAndNeckMouthExists': True, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': True, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': True, 
'respiratoryExists': True, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': True, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': True, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': True, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': True, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613310, 
'prefix': '#', 
'preferredTitle': 'EXUDATIVE VITREORETINOPATHY 5; EVR5', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'headAndNeckEyes': '''Avascularity of peripheral retina {UMLS C3808307};\nRetinal exudates {SNOMEDCT:39832008} {UMLS C0240897 HP:0001147} {HPO HP:0001147 C0240897};\nDecreased visual acuity (in some patients) {UMLS C3554187} {HPO HP:0007663 C0234632};\nTractional retinal detachment (in some patients) {UMLS C3808308} {HPO HP:0007917 C1866178};\nShallow anterior chamber (in some patients) {UMLS C3808309} {HPO HP:0000594 C0423276};\nNasally displaced pupils (in some patients) {UMLS C3808310};\nAbnormal vascularization of the iris on indocyanine green angiography (in some patients) {UMLS C3808311}''', 
'miscellaneous': '''Visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment {UMLS C3808313};\nSeverely affected individuals may carry 2 mutated alleles {UMLS C3808314}''', 
'molecularBasis': 'Caused by mutation in the tetraspanin-12 gene (TSPAN12, {613138.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': True, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613370, 
'prefix': '#', 
'preferredTitle': 'MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'endocrineFeatures': 'Diabetes mellitus {SNOMEDCT:73211009} {ICD10CM:E08-E13} {ICD9CM:250} {UMLS C0011849 HP:0000819} {HPO HP:0000819 C0011849}', 
'miscellaneous': '''Diagnosed in second or third decade of life {UMLS C3278782};\nOccasionally low-dose insulin required {UMLS C3278783}''', 
'molecularBasis': 'Caused by mutation in the insulin gene (INS, {176730.0014})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': True, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613312, 
'prefix': '#', 
'preferredTitle': 'HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'growthHeight': 'Short stature {SNOMEDCT:422065006,237837007,237836003} {ICD10CM:R62.52,E34.3} {ICD9CM:783.43} {UMLS C0013336,C0349588,C2237041,C2919142 HP:0004322,HP:0003510} {HPO HP:0004322 C0349588}', 
'headAndNeckTeeth': '''Hypoplastic teeth (in 1 patient) {UMLS C4747623} {HPO HP:0000685 C0235357,C4280611};\nDental caries (rare) {UMLS C4747624} {HPO HP:0000670 C0011334,C4280623}''', 
'cardiovascularHeart': 'Thickening of aortic valves (in 1 patient) {UMLS C4747633}', 
'cardiovascularVascular': '''Aortic root dissection (in 1 patient) {UMLS C4747634};\nPulmonary stenosis, mild (in 1 patient) {UMLS C4747635} {HPO HP:0001642 C1956257}''', 
'genitourinaryKidneys': 'Medullary nephrocalcinosis (in 1 patient) {UMLS C4747622} {HPO HP:0012408 C0403477}', 
'skeletal': 'Delayed bone age {SNOMEDCT:123983008} {UMLS C0541764 HP:0002750} {HPO HP:0002750 C0541764}', 
'skeletalPelvis': 'Coxa valga (in 1 patient) {UMLS C4313573} {HPO HP:0002673 C0239137,C3549698}', 
'skeletalLimbs': '''Slight widening of the wrist {UMLS C4747625};\nWidening of growth pate of radius {UMLS C4747626};\nWidening of growth plate of ulna {UMLS C4747627};\nCupping of growth plate of radius {UMLS C4747628};\nCupping of growth plate of ulna {UMLS C4747629};\nBowing of femur {UMLS C1859461 HP:0002980};\nGenu valgum {SNOMEDCT:52012001,299330008} {ICD10CM:M21.06} {ICD9CM:736.41} {UMLS C0576093,C0158484 HP:0002857} {HPO HP:0002857 C0576093};\nGenu varum {SNOMEDCT:64925008,299331007} {ICD10CM:M21.16} {ICD9CM:736.42} {UMLS C0158485,C0544755 HP:0002970,HP:0002979} {HPO HP:0002970 C0544755};\nBowing of tibia {UMLS C1837081 HP:0002982}''', 
'laboratoryAbnormalities': '''Hypophosphatemia {SNOMEDCT:4996001} {UMLS C0595888,C0085682,C4554637 HP:0002148} {HPO HP:0002148 C0085682};\nHyperphosphaturia {SNOMEDCT:85487008,22450000} {UMLS C0268079,C0282201,C0948023 HP:0003109} {HPO HP:0003109 C0268079,C0948023};\nElevated plasma alkaline phosphatase {UMLS C4747630};\nNormal calcium level {UMLS C0860970};\nNormal calcium excretion {UMLS C4747631};\nNormal PTH {UMLS C0858303};\nNormal vitamin D metabolites {UMLS C4747632}''', 
'miscellaneous': '''Normal renal function {SNOMEDCT:81141003} {UMLS C0232805};\nNo vascular or periarticular calcifications {UMLS C4747637}''', 
'molecularBasis': 'Caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (ENPP1, {173335.0010})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': True, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': True, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': True, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': True, 
'skeletalLimbsExists': True, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613371, 
'prefix': '%', 
'preferredTitle': 'SPINOCEREBELLAR ATAXIA 30; SCA30', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'headAndNeckEyes': '''Hypermetric saccades {SNOMEDCT:246769000} {UMLS C0423083 HP:0007338} {HPO HP:0007338 C0423083};\nGaze-evoked nystagmus (1 patient) {UMLS C3278786} {HPO HP:0000640 C0271390}''', 
'neurologicCentralNervousSystem': '''Ataxia, gait and appendicular {UMLS C3278784};\nDysarthria {SNOMEDCT:8011004} {ICD9CM:438.13,784.51} {UMLS C0013362,C4553903 HP:0001260} {HPO HP:0001260 C0013362};\nHyperreflexia, lower limbs, mild {UMLS C3278785};\nCerebellar atrophy {UMLS C0740279 HP:0001272} {HPO HP:0001272 C0262404,C0740279,C4020873}''', 
'miscellaneous': '''Adult onset (45 to 76 years) {UMLS C3278787} {HPO HP:0003581 C1853562};\nInsidious onset {SNOMEDCT:367326009} {UMLS C1298634 HP:0003587} {HPO HP:0003587 C0332164,C1298634};\nSlow progression {UMLS C1854494 HP:0003677} {HPO HP:0003677 C1854494};\nOne family has been reported (as of 4/2010) {UMLS C3278788}''', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': True, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': False, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613313, 
'prefix': '#', 
'preferredTitle': 'HEMOCHROMATOSIS, TYPE 2B; HFE2B', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'cardiovascularHeart': '''Heart failure {SNOMEDCT:84114007,42343007} {ICD10CM:I50,I50.9} {ICD9CM:428,428.9,428.0} {UMLS C0018801,C0018802,C4554158 HP:0001635} {HPO HP:0001635 C0018801,C0018802};\nCardiomyopathy {SNOMEDCT:57809008,85898001} {ICD10CM:I42,I51.5,I42.9} {ICD9CM:425} {UMLS C0878544 HP:0001638} {HPO HP:0001638 C0878544}''', 
'abdomenLiver': '''Fibrosis {SNOMEDCT:263756000,112674009} {UMLS C0016059,C4285457};\nCirrhosis {SNOMEDCT:19943007} {ICD10CM:K74.60} {UMLS C1623038,C0023890 HP:0001394} {HPO HP:0001394 C0023890};\nHepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209}''', 
'abdomenSpleen': 'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}', 
'genitourinaryExternalGenitaliaMale': 'Hypogonadism {SNOMEDCT:48130008} {UMLS C0020619 HP:0000135} {HPO HP:0000135 C0020619}', 
'genitourinaryExternalGenitaliaFemale': 'Hypogonadism {SNOMEDCT:48130008} {UMLS C0020619 HP:0000135} {HPO HP:0000135 C0020619}', 
'skinNailsHairSkin': 'Hyperpigmentation {SNOMEDCT:4830009,49765009} {UMLS C1962962,C0162834 HP:0000953}', 
'hematology': 'Anemia {SNOMEDCT:271737000} {ICD10CM:D64.9} {ICD9CM:285.9} {UMLS C0002871,C4554633,C1000483 HP:0001903} {HPO HP:0001903 C0002871,C0162119}', 
'laboratoryAbnormalities': '''Increased serum iron {SNOMEDCT:165624002} {UMLS C0151900 HP:0003452} {HPO HP:0003452 C0151900};\nIncreased serum ferritin {UMLS C0241013 HP:0003281} {HPO HP:0003281 C0241013,C0743912,C3854388};\nIncreased transaminases {UMLS C0438717 HP:0002910} {HPO HP:0002910 C0086565,C0151766,C0235996,C0438237,C0438717,C0877359,C1842003,C1848701};\nIncreased or complete (100%) transferrin saturation {UMLS C4478919}''', 
'miscellaneous': 'Onset is usually before 30 years of age {UMLS C4478921}', 
'molecularBasis': 'Caused by mutation in the hepcidin antimicrobial peptide gene (HAMP, {606464.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': True, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': True, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': True, 
'genitourinaryExternalGenitaliaFemaleExists': True, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': True, 
'skinNailsHairSkinExists': True, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': True, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613375, 
'prefix': '#', 
'preferredTitle': 'MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'growthWeight': '''Overweight {SNOMEDCT:238131007} {ICD10CM:E66.3} {ICD9CM:278.02} {UMLS C0497406 HP:0025502} {HPO HP:0025502};\nObesity {SNOMEDCT:414915002,414916001} {ICD10CM:E66.9} {ICD9CM:278.00} {UMLS C1963185,C0028754 HP:0001513} {HPO HP:0001513 C0028754}''', 
'endocrineFeatures': 'Diabetes mellitus {SNOMEDCT:73211009} {ICD10CM:E08-E13} {ICD9CM:250} {UMLS C0011849 HP:0000819} {HPO HP:0000819 C0011849}', 
'miscellaneous': 'Some patients require insulin for treatment {UMLS C3278790}', 
'molecularBasis': 'Caused by mutation in the BLK nonreceptor tyrosine kinase gene (BLK, {191305.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': False, 
'growthWeightExists': True, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': True, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613319, 
'prefix': '#', 
'preferredTitle': 'MIYOSHI MUSCULAR DYSTROPHY 3; MMD3', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'muscleSoftTissue': '''Distal muscle weakness {SNOMEDCT:249942005} {UMLS C0427065 HP:0002460} {HPO HP:0002460 C0427065,C1864696};\nInability to stand on tiptoes {UMLS C3150479};\nCalf muscle discomfort {UMLS C3150480};\nCalf muscle weakness {SNOMEDCT:309249007} {UMLS C0586738};\nCalf hypertrophy (early in the disease) {UMLS C3150481} {HPO HP:0008981 C1843057};\nCalf atrophy (later onset) {UMLS C3150482};\nHypertrophy of the extensor digitorum brevis muscles {UMLS C3150483};\nMRI shows fatty infiltration of affected muscles {UMLS C1864710};\nDifficulty running {SNOMEDCT:282479002} {UMLS C0560346 HP:0009046} {HPO HP:0009046 C0560346};\nDifficulty climbing stairs {SNOMEDCT:282195009} {UMLS C0239067 HP:0003551} {HPO HP:0003551 C0239067};\nDifficulty rising from chair {UMLS C3150484};\nProximal lower limb muscle weakness, upper and lower (later onset) {UMLS C3150485};\nQuadriceps atrophy (later onset) {UMLS C3150486};\nMuscle weakness and atrophy may be asymmetric {UMLS C3150487};\nDisruption of the sarcolemmal membrane seen on muscle biopsy {UMLS C3552741}''', 
'laboratoryAbnormalities': 'Increased serum creatine kinase {UMLS C0241005 HP:0003236} {HPO HP:0003236 C0151576,C0241005}', 
'miscellaneous': '''Onset age 20 to 51 years {UMLS C3150489};\nIndependent ambulation is maintained {UMLS C3150490};\nVariable severity {UMLS C1861403 HP:0003828} {HPO HP:0003828 C1861403,C1866862};\nFemale mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase {UMLS C3552743};\nLimb-girdle muscular dystrophy type 2L (LGMD2L, {611307}) is an allelic disorder''', 
'molecularBasis': 'Caused by mutation in the anoctamin 5 gene (ANO5, {608662.0004})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': True, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613376, 
'prefix': '#', 
'preferredTitle': 'NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'muscleSoftTissue': '''Distal lower and upper limb muscle atrophy {UMLS C1848736 HP:0003693};\nAtrophy of the intrinsic foot and hand muscles {UMLS C3150622}''', 
'neurologicPeripheralNervousSystem': '''Muscle weakness, distal {SNOMEDCT:249942005} {UMLS C0427065 HP:0002460} {HPO HP:0002460 C0427065,C1864696};\nDistal lower limb muscle weakness {UMLS C1836450 HP:0009053} {HPO HP:0009053 C1836450};\nDistal upper limb muscle weakness {UMLS C3150620 HP:0008959} {HPO HP:0008959 C3150620};\nSteppage gait {SNOMEDCT:27253007} {UMLS C0427149 HP:0003376} {HPO HP:0003376 C0427149};\nDifficulty walking {SNOMEDCT:719232003,228158008} {ICD9CM:719.7} {UMLS C0311394 HP:0002355} {HPO HP:0002355 C0311394};\nEMG shows neurogenic abnormalities {UMLS C1846832};\nNeurophysiologic studies show a predominantly motor neuropathy {UMLS C2750686};\nHyporeflexia of lower limbs {UMLS C1834696 HP:0002600} {HPO HP:0002600 C1834696};\nAreflexia of lower limbs {UMLS C1856694 HP:0002522} {HPO HP:0002522 C1856694};\nNo or mild distal sensory deficit {UMLS C3150621}''', 
'miscellaneous': '''Onset in early twenties {UMLS C3150624};\nSlowly progressive {UMLS C1854494 HP:0003677} {HPO HP:0003677 C1854494};\nLower limb involvement occurs before upper limb involvement {UMLS C3150625};\nOne family has been reported {UMLS C2750513}''', 
'molecularBasis': 'Caused by mutation in the heat-shock 27-kD protein 3 gene (HSPB3, {604624.0001}).', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': True, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': True, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613320, 
'prefix': '#', 
'preferredTitle': 'SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'growthHeight': 'Short stature, pre- and postnatal {UMLS C3150493}', 
'growthWeight': 'Low birth weight {SNOMEDCT:267258002,276610007} {UMLS C0024032 HP:0001518} {HPO HP:0001518 C0024032,C0235991}', 
'headAndNeckHead': '''Large fontanelles {SNOMEDCT:276709006} {UMLS C0456132 HP:0000239} {HPO HP:0000239 C0456132,C4072820,C4072821,C4072822};\nProminent forehead {UMLS C1837260 HP:0011220} {HPO HP:0011220 C1837260,C1867446} {EOM ID:510a51e4083c1d6f IMG:Forehead,Prominent-small.jpg}''', 
'headAndNeckFace': 'Round face {UMLS C0239479 HP:0000311} {HPO HP:0000311 C0239479,C1856468} {EOM ID:a98d48239172dc71 IMG:Face,Round-small.jpg}', 
'headAndNeckEars': '''Small ears {SNOMEDCT:35045004} {ICD10CM:Q17.2} {ICD9CM:744.23} {UMLS C0152423 HP:0008551} {HPO HP:0008551 C0152423};\nLow-set ears {SNOMEDCT:95515009} {ICD10CM:Q17.4} {UMLS C0239234 HP:0000369} {HPO HP:0000369 C0239234}''', 
'headAndNeckNose': '''Depressed nasal bridge {UMLS C1836542 HP:0005280} {HPO HP:0005280 C1836542,C3550546,C4280495} {EOM ID:000fb29123c16757 IMG:Nasal_Bridge,Depressed-small.jpg};\nShort nose {UMLS C1854114 HP:0003196} {HPO HP:0003196 C0426414,C1854114} {EOM ID:daeb9fb85b0b970f IMG:Nose,Short-small.jpg};\nWide nostrils {SNOMEDCT:399353008} {UMLS C0426440 HP:0009931};\nAnteverted nares {SNOMEDCT:708670007} {UMLS C1840077 HP:0000463} {HPO HP:0000463 C1840077} {EOM ID:d7284223e790d7aa IMG:Nares,Anteverted-small.jpg};\nIncreased nasal width {SNOMEDCT:249321001} {UMLS C0426421 HP:0000445} {HPO HP:0000445 C0426421}''', 
'headAndNeckMouth': 'Deep philtrum {UMLS C1839797 HP:0002002} {HPO HP:0002002 C1839797,C4020861} {EOM ID:3c771454d4293f5e IMG:Philtrum,Deep-small.jpg}', 
'headAndNeckNeck': 'Short neck {SNOMEDCT:95427009} {UMLS C0521525 HP:0000470} {HPO HP:0000470 C0521525} {EOM ID:c75e63fd749ec7a8 IMG:Neck,Short-small.jpg}', 
'cardiovascularHeart': '''Cardiomegaly {SNOMEDCT:8186001} {ICD10CM:I51.7} {ICD9CM:429.3} {UMLS C0018800 HP:0001640} {HPO HP:0001640 C0018800};\nGlobal left ventricular hypokinesia {UMLS C4229844};\nRight atrium dilatation {UMLS C4229843};\nPulmonary hypertension {SNOMEDCT:70995007} {ICD10CM:I27.20} {UMLS C0020542,C1963220}''', 
'respiratory': 'Tachypnea {SNOMEDCT:271823003} {ICD10CM:R06.82} {ICD9CM:786.06} {UMLS C0231835 HP:0002789} {HPO HP:0002789 C0231835}', 
'chestExternalFeatures': '''Narrow chest {SNOMEDCT:249671009} {UMLS C0426790 HP:0000774} {HPO HP:0000774 C0426790};\nBell-shaped thorax {UMLS C1865186 HP:0001591} {HPO HP:0001591 C1865186}''', 
'chestRibsSternumClaviclesAndScapulae': '''Short ribs {SNOMEDCT:249696007} {UMLS C0426817 HP:0000773} {HPO HP:0000773 C0426817};\nCupped end ribs {UMLS C3150492}''', 
'abdomenExternalFeatures': 'Prominent abdomen {UMLS C1850290}', 
'skeletal': 'Delayed bone age {SNOMEDCT:123983008} {UMLS C0541764 HP:0002750} {HPO HP:0002750 C0541764}', 
'skeletalSkull': 'Wormian bones {SNOMEDCT:113194005} {UMLS C0222716 HP:0002645} {HPO HP:0002645 C0222716}', 
'skeletalSpine': '''Severe platyspondyly {UMLS C1850293 HP:0004565} {HPO HP:0004565 C1850293};\nSlightly ovoid vertebrae {UMLS C4229848};\nPartial sacral agenesis {SNOMEDCT:253189008} {UMLS C0431414 HP:0008455} {HPO HP:0008455 C1851305};\nDecrease in interpedicular distance in the lumbar vertebrae {UMLS C4229846}''', 
'skeletalPelvis': '''Square iliac bones {UMLS C1838186 HP:0003177} {HPO HP:0003177 C1838186};\nHorizontal acetabula with medial and lateral spurs {UMLS C3150495};\nHypoplastic ischia {UMLS C1859447 HP:0003175} {HPO HP:0003175 C1859447};\nLacy appearance of iliac crest {UMLS C1857186 HP:0008786} {HPO HP:0008786 C1857186};\nTrident acetabula {UMLS C3810182}''', 
'skeletalLimbs': '''Short limbs {UMLS C0239399 HP:0009826} {HPO HP:0009826 C0239399};\nShort long bones {UMLS C1854912 HP:0003026};\nSlight widening of the distal femoral metaphyses {UMLS C3150496};\nAbsence of epiphyseal ossification of the knees {UMLS C3150497};\nAbnormal modeling of the long bones {UMLS C4229845};\nBowed femora {UMLS C1859461 HP:0002980};\nMetaphyseal cupping {UMLS C1837082 HP:0003021} {HPO HP:0003021 C1837082}''', 
'neurologicCentralNervousSystem': '''Developmental delay {SNOMEDCT:248290002,224958001} {ICD10CM:F88} {ICD9CM:315.9} {UMLS C0424605,C0557874 HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};\nAxial hypotonia {UMLS C1853743 HP:0008936} {HPO HP:0008936 C1853743}''', 
'miscellaneous': '''Bone abnormalities improve with age {UMLS C3150498};\nReduced longevity {UMLS C4229841};\nTwo consanguineous Lebanese families have been reported (last curated March 2015) {UMLS C4229840}''', 
'molecularBasis': 'Caused by mutation in the homolog of the S. cerevisiae presequence translocase-associated motor 16 gene (PAM16, {614336.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': True, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': True, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': True, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': True, 
'headAndNeckMouthExists': True, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': True, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': False, 
'respiratoryExists': True, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': True, 
'chestExternalFeaturesExists': True, 
'chestRibsSternumClaviclesAndScapulaeExists': True, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': True, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': True, 
'skeletalSpineExists': True, 
'skeletalPelvisExists': True, 
'skeletalLimbsExists': True, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613382, 
'prefix': '#', 
'preferredTitle': 'BRACHYDACTYLY, TYPE E2; BDE2', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'growthHeight': 'Short stature {SNOMEDCT:422065006,237837007,237836003} {ICD10CM:R62.52,E34.3} {ICD9CM:783.43} {UMLS C0013336,C0349588,C2237041,C2919142 HP:0004322,HP:0003510} {HPO HP:0004322 C0349588}', 
'headAndNeckTeeth': '''Delayed eruption, primary and secondary (in some patients) {UMLS C3150645};\nOligodontia (in some patients) {UMLS C3150646} {HPO HP:0000677 C4082304,C4280619}''', 
'skeletalHands': 'Short metacarpals, III-V {UMLS C3150647}', 
'skeletalFeet': 'Short metatarsals {UMLS C1849020 HP:0010743} {HPO HP:0010743 C1849020}', 
'molecularBasis': 'Caused by mutation in the parathyroid hormone-like hormone gene (PTHLH, {168470.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': True, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': True, 
'skeletalFeetExists': True, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': False, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613325, 
'prefix': '#', 
'preferredTitle': 'RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'neoplasia': '''Rhabdoid tumors, malignant {SNOMEDCT:83118000} {UMLS C0206743};\nSmall cell carcinoma of the ovary, hypercalcemic type {UMLS C4013716}''', 
'miscellaneous': 'Increased risk of developing early-onset aggressive cancers {UMLS C4013718}', 
'molecularBasis': 'Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 gene (SMARCA4, {603254.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': True, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613327, 
'prefix': '#', 
'preferredTitle': 'LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'growthOther': 'Failure to thrive {SNOMEDCT:54840006,433476000,432788009} {ICD10CM:R62.51} {ICD9CM:783.41} {UMLS C2315100,C0015544,C3887638 HP:0001508} {HPO HP:0001508 C0231246,C2315100}', 
'cardiovascularHeart': '''Long QT syndrome {SNOMEDCT:111975006,9651007} {ICD10CM:I45.81} {ICD9CM:426.82} {UMLS C0023976,C0151878 HP:0001657} {HPO HP:0001657 C0151878};\nAtrial fibrillation {SNOMEDCT:164889003,49436004} {ICD9CM:427.31} {UMLS C0344434,C0004238,C2926591,C1963067 HP:0005110} {HPO HP:0005110 C0004238};\nArrhythmia {SNOMEDCT:698247007} {ICD10CM:I49.9} {ICD9CM:427,427.9} {UMLS C0003811 HP:0011675} {HPO HP:0011675 C0003811,C0264886,C0522055,C0855329,C1832603,C1842820};\nTachycardia {SNOMEDCT:86651002,3424008} {ICD10CM:R00.0} {ICD9CM:785.0} {UMLS C3827868,C0039231 HP:0001649} {HPO HP:0001649 C0039231,C4020868};\nBradycardia {SNOMEDCT:48867003} {ICD10CM:R00.1} {UMLS C0428977,C3812171 HP:0001662} {HPO HP:0001662 C0428977}''', 
'abdomenExternalFeatures': '''Protruding abdomen {UMLS C1855750};\nProminent umbilicus {UMLS C1837795 HP:0001544} {HPO HP:0001544 C1837795}''', 
'abdomenLiver': '''Hepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209};\nFatty liver {SNOMEDCT:197321007,442191002} {UMLS C0015695,C2711227 HP:0001397} {HPO HP:0001397 C2711227}''', 
'abdomenSpleen': 'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}', 
'abdomenGastrointestinal': '''Poor feeding {SNOMEDCT:78164000,299698007} {ICD10CM:R63.3} {UMLS C0576456,C0232466 HP:0011968} {HPO HP:0011968 C0232466};\nDysphagia {SNOMEDCT:40739000,288939007} {ICD10CM:R13.1,R13.10} {ICD9CM:787.2,787.20} {UMLS C0011168,C1560331 HP:0002015,HP:0200136} {HPO HP:0002015 C0011168};\nConstipation {SNOMEDCT:14760008} {ICD10CM:K59.0,K59.00} {ICD9CM:564.0,564.00} {UMLS C1963087,C0009806,C3641755,C4084722,C4084723,C4084724 HP:0002019} {HPO HP:0002019 C0009806,C0237326};\nIleus {SNOMEDCT:710572000} {UMLS C1560456,C4019039,C1258215 HP:0002595} {HPO HP:0002595 C1258215};\nEsophageal dilatation {SNOMEDCT:78974003,195565004} {ICD9CM:42.92} {UMLS C0740287,C0192389};\nEsophageal dysmotility {SNOMEDCT:79962008,266434009} {ICD10CM:K22.4} {ICD9CM:530.5} {UMLS C0014858,C0014863 HP:0025271};\nHypertrophic pyloric stenosis {SNOMEDCT:48644003} {ICD10CM:Q40.0} {ICD9CM:750.5} {UMLS C0700639};\nSmooth muscle hypertrophy in the gastrointestinal tract {UMLS C3150508}''', 
'skeletal': '''Joint contractures {SNOMEDCT:7890003} {ICD10CM:M24.5} {ICD9CM:718.40,718.4} {UMLS C0009918 HP:0001371} {HPO HP:0001371 C0009917,C0009918,C0333068,C1850530};\nOsteopenia {SNOMEDCT:312894000,78441005} {UMLS C0029453 HP:0000938} {HPO HP:0000938 C0029453,C0747078};\nOsteoporosis {SNOMEDCT:64859006} {ICD10CM:Z82.62,M81.0} {ICD9CM:733.0,V17.81,733.00} {UMLS C4554622,C2911643,C0029456,C1962963 HP:0000939} {HPO HP:0000939 C0029456}''', 
'skeletalSpine': '''Spinal rigidity {UMLS C1858025 HP:0003306} {HPO HP:0003306 C1858025};\nHyperlordosis {SNOMEDCT:249710008,61960001} {ICD10CM:M40.5} {UMLS C0024003 HP:0003307} {HPO HP:0003307 C0024003};\nScoliosis {SNOMEDCT:298382003,20944008,111266001} {ICD10CM:Q67.5,M41,M41.9} {UMLS C0559260,C0036439,C4552773,C0700208 HP:0002650} {HPO HP:0002650 C0037932,C0700208};\nAtlanto-axial instability {UMLS C3150511}''', 
'skinNailsHairHair': '''Acanthosis nigricans {SNOMEDCT:72129000,402599005} {ICD10CM:L83} {UMLS C0000889 HP:0000956} {HPO HP:0000956 C0000889};\nHirsutism (less common) {UMLS C3150512} {HPO HP:0001007 C0019572}''', 
'muscleSoftTissue': '''Muscle weakness, proximal {SNOMEDCT:249939004} {UMLS C0221629 HP:0003701} {HPO HP:0003701 C0221629,C1838869};\nMuscle weakness, generalized {ICD10CM:M62.81} {ICD9CM:728.87} {UMLS C0746674 HP:0003324} {HPO HP:0003324 C0746674};\nExercise intolerance {SNOMEDCT:267044007} {UMLS C0424551 HP:0003546} {HPO HP:0003546 C0424551};\nPercussion-induced muscle mounding (muscle rippling) {UMLS C3150502};\nMuscle hypertrophy {SNOMEDCT:249829006} {UMLS C0236033,C2265792 HP:0003712} {HPO HP:0003712 C2265792};\nProminent muscular appearance {UMLS C3150503};\nMyalgia {SNOMEDCT:68962001} {ICD10CM:M79.1} {UMLS C0231528,C4552646 HP:0003326} {HPO HP:0003326 C0231528};\nMuscle stiffness {SNOMEDCT:16046003} {UMLS C4085861,C0221170 HP:0003552} {HPO HP:0003552 C0221170};\nMuscle biopsy shows dystrophic changes {UMLS C1864711 HP:0003560} {HPO HP:0003560 C0026850,C1864711};\nDecreased sarcolemmal immunostaining for PTRF {UMLS C3150504};\nSecondary loss of sarcolemmal caveolin-3 {UMLS C3150505};\nDecreased caveolae in muscle tissue {UMLS C3150506};\nLoss of subcutaneous fat, generalized {UMLS C3150507}''', 
'endocrineFeatures': '''Hyperinsulinemia {SNOMEDCT:83469008,131103005} {ICD10CM:E16.1} {UMLS C0020459,C0852795 HP:0000842} {HPO HP:0000842 C0020459};\nInsulin resistance {SNOMEDCT:48606007,763325000} {UMLS C0021655,C4049994 HP:0000855} {HPO HP:0000855 C0021655};\nAcromegaloid features {UMLS C3150500};\nDecreased growth hormone secretion (1 patient) {UMLS C3150501}''', 
'immunology': '''Transient IgA deficiency (1 patient) {UMLS C3150509};\nRecurrent infections {SNOMEDCT:451991000124106} {UMLS C0239998 HP:0002719} {HPO HP:0002719 C0239998};\nDefective humoral immunity {UMLS C3150510 HP:0005368} {HPO HP:0005368 C3150510}''', 
'laboratoryAbnormalities': '''Increased serum creatine kinase {UMLS C0241005 HP:0003236} {HPO HP:0003236 C0151576,C0241005};\nIncreased serum triglycerides {SNOMEDCT:166848004} {UMLS C0813230 HP:0002155} {HPO HP:0002155 C1522137};\nAbnormal liver enzymes {SNOMEDCT:166643006} {UMLS C0438237 HP:0002910} {HPO HP:0002910 C0086565,C0151766,C0235996,C0438237,C0438717,C0877359,C1842003,C1848701}''', 
'miscellaneous': '''Onset in infancy or early childhood {UMLS C1837138};\nSudden death due to cardiac arrhythmia may occur {UMLS C3150514}''', 
'molecularBasis': 'Caused by mutation in the RNA polymerase I and transcript release factor gene (PTRF, {603198.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': True, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': True, 
'abdomenLiverExists': True, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': True, 
'abdomenGastrointestinalExists': True, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': True, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': True, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': True, 
'muscleSoftTissueExists': True, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': True, 
'hematologyExists': False, 
'immunologyExists': True, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613385, 
'prefix': '#', 
'preferredTitle': 'AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'growthHeight': 'Below 3rd percentile {UMLS C3278794}', 
'growthWeight': 'Below 3rd percentile {UMLS C3278794}', 
'headAndNeckHead': '''Macrocephaly, relative {SNOMEDCT:3961000119101} {UMLS C1849075 HP:0004482} {HPO HP:0004482 C1849075};\nDolichocephaly {SNOMEDCT:72239002} {ICD10CM:Q67.2} {UMLS C0221358 HP:0000268} {HPO HP:0000268 C0221358,C4280653,C4280654,C4280655,C4280656} {EOM ID:e09c1185a1ef3e38 IMG:Dolichocephaly-small.jpg};\nProminent occiput {UMLS C1853737 HP:0000269} {HPO HP:0000269 C1853737,C4280652} {EOM ID:be559f6b4bd52c20 IMG:Occiput,Prominent-small.jpg};\nFrontal bossing {SNOMEDCT:90145001} {UMLS C0221354 HP:0002007} {HPO HP:0002007 C0221354} {EOM ID:a223995bdef3e8d6 IMG:Frontal_Bossing-small.jpg}''', 
'headAndNeckFace': '''Flattened midface {UMLS C3278797};\nSmall chin {UMLS C1839323 HP:0000331} {HPO HP:0000331 C1839323,C3697248}''', 
'headAndNeckEars': '''Low-set ears {SNOMEDCT:95515009} {ICD10CM:Q17.4} {UMLS C0239234 HP:0000369} {HPO HP:0000369 C0239234};\nPosteriorly rotated ears {SNOMEDCT:253251006} {UMLS C0431478 HP:0000358} {HPO HP:0000358 C0431478}''', 
'headAndNeckEyes': 'Proptosis {SNOMEDCT:18265008} {ICD10CM:H05.20} {ICD9CM:376.30} {UMLS C0015300 HP:0000520} {HPO HP:0000520 C0015300,C1837760,C1848490,C1862425} {EOM ID:765f49f1e824f0d2 IMG:Proptosis-small.jpg}', 
'respiratoryLung': '''Pneumonitis, cellular, nonspecific interstitial {UMLS C2750127};\nSevere chronic lung disease {UMLS C3278799};\nRespiratory failure, fatal (in some patients) {UMLS C3278800}''', 
'abdomenLiver': 'Hepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209}', 
'abdomenSpleen': 'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}', 
'abdomenGastrointestinal': '''Enteropathy, autoimmune (in some patients) {UMLS C3278795};\nChronic diarrhea (in some patients) {UMLS C3278796} {HPO HP:0002028 C0401151}''', 
'skeletalHands': '''Camptodactyly {SNOMEDCT:29271008} {UMLS C0221369,C0685409 HP:0012385} {HPO HP:0012385 C0685409} {EOM ID:e2dc697e402380a8 IMG:Camptodactyly-large-small.jpg};\nClinodactyly {SNOMEDCT:17268007} {UMLS C4551485,C0265610 HP:0030084,HP:0040019} {HPO HP:0030084 C0265610,C4280304} {EOM ID:483af428f909c76c IMG:Clinodactyly-small.jpg}''', 
'neurologicCentralNervousSystem': '''Psychomotor delay {SNOMEDCT:398991009,224958001} {ICD10CM:F88} {UMLS C0424230,C0557874 HP:0025356,HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};\nGlobal hypotonia {UMLS C3278793}''', 
'endocrineFeatures': '''Hypothyroidism, autoantibody-positive (in some patients) {UMLS C3278791};\nDiabetes mellitus, type 1 (rare) {UMLS C3278792}''', 
'molecularBasis': 'Caused by mutation in the homolog of the mouse itchy gene (ITCH, {606409.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': True, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': True, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': True, 
'headAndNeckEyesExists': True, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': True, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': True, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': True, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': True, 
'abdomenGastrointestinalExists': True, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': True, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': True, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': False, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613328, 
'preferredTitle': 'ROIFMAN-CHITAYAT SYNDROME', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'headAndNeckFace': '''Hypoplastic supraorbital ridges {UMLS C1861869 HP:0009891} {HPO HP:0009891 C1861869,C4020777} {EOM ID:c86a7dfe73086e4e IMG:Supraorbital_Ridges,Underdeveloped-small.jpg};\nSquare chin {UMLS C3150515}''', 
'headAndNeckEyes': '''Lacrimal duct stenosis {SNOMEDCT:231841004} {UMLS C0238300 HP:0007678} {HPO HP:0007678 C0238300};\nThin optic nerves {UMLS C3151694};\nPuffy and droopy eyelids {UMLS C3150517};\nHypertelorism {SNOMEDCT:22006008} {ICD10CM:Q75.2} {ICD9CM:376.41} {UMLS C0020534 HP:0000316} {HPO HP:0000316 C0020534} {EOM ID:71d9f1be67c7f8b6 IMG:Eyes,Widely_Spaced-small.jpg}''', 
'headAndNeckNose': '''Flat nasal bridge {UMLS C1836542 HP:0005280} {HPO HP:0005280 C1836542,C3550546,C4280495} {EOM ID:000fb29123c16757 IMG:Nasal_Bridge,Depressed-small.jpg};\nBroad nasal root {SNOMEDCT:249321001} {UMLS C1849367 HP:0000431} {HPO HP:0000431 C1839764,C1849367}''', 
'headAndNeckMouth': 'Thin lower lip {UMLS C2053440 HP:0010282} {HPO HP:0010282 C2053440}', 
'headAndNeckNeck': 'Short neck {SNOMEDCT:95427009} {UMLS C0521525 HP:0000470} {HPO HP:0000470 C0521525} {EOM ID:c75e63fd749ec7a8 IMG:Neck,Short-small.jpg}', 
'cardiovascularVascular': 'Aberrant subclavian artery {SNOMEDCT:93353003} {UMLS C0431498}', 
'respiratoryAirways': 'Pneumonia {SNOMEDCT:233604007} {UMLS C0032285 HP:0002090} {HPO HP:0002090 C0032285}', 
'abdomenExternalFeatures': 'Umbilical hernia {SNOMEDCT:396347007,5867007} {ICD10CM:Q79.2,K42,K42.9} {ICD9CM:553.1} {UMLS C1306503,C0041636,C0019322 HP:0001537} {HPO HP:0001537 C0019322}', 
'abdomenGastrointestinal': 'Esophageal dyskinesia {SNOMEDCT:79962008,266434009} {ICD10CM:K22.4} {ICD9CM:530.5} {UMLS C0014858}', 
'genitourinaryKidneys': 'Cross-fused renal ectopia {UMLS C1835796 HP:0004736}', 
'skeletal': '''Osteopenia {SNOMEDCT:312894000,78441005} {UMLS C0029453 HP:0000938} {HPO HP:0000938 C0029453,C0747078};\nCone-shaped epiphyses {UMLS C1865037 HP:0010579} {HPO HP:0010579 C1865037}''', 
'skeletalHands': 'Short metacarpals {UMLS C1837084 HP:0010049} {HPO HP:0010049 C1837084}', 
'skeletalFeet': 'Short metatarsals {UMLS C1849020 HP:0010743} {HPO HP:0010743 C1849020}', 
'neurologicCentralNervousSystem': '''Myoclonic seizures {SNOMEDCT:37356005} {UMLS C4317123,C0014550 HP:0002123} {HPO HP:0002123 C0014550,C0751778,C4021759};\nDevelopmental delay {SNOMEDCT:248290002,224958001} {ICD10CM:F88} {ICD9CM:315.9} {UMLS C0424605,C0557874 HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};\nDilated ventricles {SNOMEDCT:6210001} {ICD10CM:I51.7} {UMLS C0264733,C3278923 HP:0002119} {HPO HP:0002119 C3278923}''', 
'immunology': '''Repeated invasive infections {UMLS C3150518};\nArthritis {SNOMEDCT:3723001} {ICD10CM:M19.90} {UMLS C4552845,C0003864 HP:0001369} {HPO HP:0001369 C0003864};\nNormal or elevated lymphocytes {UMLS C3150519};\nLow T-cell function {UMLS C3150520};\nLow IgG with antibody deficiency {UMLS C3150521}''', 
'miscellaneous': 'One family with 2 sisters have been reported (as of March 2010) {UMLS C3150522}', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': True, 
'headAndNeckNoseExists': True, 
'headAndNeckMouthExists': True, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': True, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': True, 
'respiratoryExists': True, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': True, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': True, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': True, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': True, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': True, 
'skeletalFeetExists': True, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': True, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': False, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613387, 
'prefix': '%', 
'preferredTitle': 'FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2; NAFLD2', 
'inheritance': 'Multifactorial {UMLS C1837655}', 
'abdomenLiver': 'Fatty liver (hepatic steatosis), nonalcoholic {UMLS C3278766}', 
'miscellaneous': 'Genetic heterogeneity {UMLS C0242960 HP:0001425} {HPO HP:0001425 C0242960}', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': True, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': False, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613329, 
'prefix': '#', 
'preferredTitle': 'PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY', 
'inheritance': '''Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899};\nAutosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}''', 
'hematology': '''Increased bleeding after trauma, surgery, or injury {UMLS C3278771};\nHematomas after trauma or injury {UMLS C3278772};\nBleeding defect due to decreased plasminogen activator inhibitor-1 {UMLS C3278773};\nDecreased euglobin lysis time {UMLS C3278774};\nIncreased fibrinolysis {SNOMEDCT:89470004} {UMLS C0151648,C2314905};\nMenorrhagia {SNOMEDCT:386692008} {ICD10CM:N92.0} {UMLS C0025323,C4553737 HP:0000132} {HPO HP:0000132 C0025323}''', 
'miscellaneous': '''Congenital onset {UMLS C1836142 HP:0003577} {HPO HP:0003577 C1836142,C2752013};\nSpontaneous bleeding is rare {UMLS C3278776};\nFavorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) {UMLS C3278777}''', 
'molecularBasis': 'Caused by mutation in the serpin peptidase inhibitor, clade E, member 1 gene (SERPINE1, {173360.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': True, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} 
} ] 
} 
} }
8448c024c1bb5ba3b227d03545a78e744067300c
<mask token>

omim = {'omim': {'version': '1.0', 'searchResponse': {'search': '*',
    'expandedSearch': '*:*', 'parsedSearch': '+*:* ()', 'searchSuggestion':
    None, 'searchSpelling': None, 'filter': '', 'expandedFilter': None,
    'fields': '', 'searchReport': None, 'totalResults': 7368, 'startIndex':
    6200, 'endIndex': 6219, 'sort': '', 'operator': '', 'searchTime': 3.0,
    'clinicalSynopsisList': [{'clinicalSynopsis': {'mimNumber': 613364,
    'prefix': '%', 'preferredTitle':
    'SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'genitourinaryBladder':
    'Urinary urgency {SNOMEDCT:75088002} {ICD10CM:R39.15} {ICD9CM:788.63} {UMLS C4553976,C0085606 HP:0000012} {HPO HP:0000012 C0085606,C3544092,C4020898}'
    , 'muscleSoftTissue':
    'Mild weakness of the small hand muscles {UMLS C3278778}',
    'neurologicCentralNervousSystem':
    """Spastic paraplegia {SNOMEDCT:192967009} {UMLS C0037772 HP:0001258} {HPO HP:0001258 C0037772};
Spastic gait {SNOMEDCT:9447003} {ICD10CM:R26.1} {UMLS C0231687 HP:0002064} {HPO HP:0002064 C0231687};
Lower limb muscle weakness, proximal {UMLS C1866010 HP:0008994};
Hyperreflexia {SNOMEDCT:86854008} {UMLS C0151889 HP:0001347} {HPO HP:0001347 C0151889}"""
    , 'miscellaneous':
    """Average age at onset 16.6 years {UMLS C3278779};
One 4-generation Chinese family has been reported (as of 04/2010) {UMLS C3278780}"""
    , 'inheritanceExists': True, 'growthExists': False,
    'growthHeightExists': False, 'growthWeightExists': False,
    'growthOtherExists': False, 'headAndNeckExists': False,
    'headAndNeckHeadExists': False, 'headAndNeckFaceExists': False,
    'headAndNeckEarsExists': False, 'headAndNeckEyesExists': False,
    'headAndNeckNoseExists': False, 'headAndNeckMouthExists': False,
    'headAndNeckTeethExists': False, 'headAndNeckNeckExists': False,
    'cardiovascularExists': False, 'cardiovascularHeartExists': False,
    'cardiovascularVascularExists': False, 'respiratoryExists': False,
    'respiratoryNasopharynxExists': False, 'respiratoryLarynxExists': False,
    'respiratoryAirwaysExists': False, 'respiratoryLungExists': False,
    'chestExists': False, 'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': True,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': True, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': True, 'neurologicExists': True,
    'neurologicCentralNervousSystemExists': True,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': False, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613307, 'prefix': '#', 'preferredTitle':
    'DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79', 'inheritance':
    'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}'
    , 'headAndNeckEars':
    'Hearing loss, sensorineural, progressive (severe to profound) {UMLS C4229862} {HPO HP:0000408 C1843156}'
    , 'miscellaneous':
    """Dutch, Pakistani, and Moroccan families have been described {UMLS C4229860};
Onset of hearing loss in first decade of life {UMLS C4229859}"""
    , 'molecularBasis':
    'Caused by mutation in the taperin gene (TPRN, {613354.0001})',
    'inheritanceExists': True, 'growthExists': False, 'growthHeightExists':
    False, 'growthWeightExists': False, 'growthOtherExists': False,
    'headAndNeckExists': True, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': False, 'headAndNeckEarsExists': True,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': False, 'cardiovascularExists': False,
    'cardiovascularHeartExists': False, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': False, 'respiratoryNasopharynxExists': 
    False, 'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': 
    False, 'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613308, 'prefix': '#', 'preferredTitle':
    'DIAMOND-BLACKFAN ANEMIA 9; DBA9', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'growthOther':
    'Growth retardation {SNOMEDCT:59576002,444896005} {UMLS C0151686 HP:0001510} {HPO HP:0001510 C0151686,C0456070,C0878787,C1837385,C3552463}'
    , 'headAndNeckFace': 'Cathie facies {UMLS C4314925}', 'headAndNeckNeck':
    'Webbed neck (rare) {UMLS C3554266} {HPO HP:0000465 C0221217}',
    'hematology':
    'Anemia {SNOMEDCT:271737000} {ICD10CM:D64.9} {ICD9CM:285.9} {UMLS C0002871,C4554633,C1000483 HP:0001903} {HPO HP:0001903 C0002871,C0162119}'
    , 'laboratoryAbnormalities':
    'Vitamin D deficiency {SNOMEDCT:34713006} {ICD10CM:E55,E55.9} {ICD9CM:268,268.9} {UMLS C0042870 HP:0100512} {HPO HP:0100512 C0042870}'
    , 'miscellaneous':
    """Some patients are steroid responsive {UMLS C4314939};
Age at diagnosis ranged from birth to 12 years {UMLS C4314844};
Limited clinical information provided {UMLS C4230773}"""
    , 'molecularBasis':
    'Caused by mutation in ribosomal protein S10 (RPS10, {603632.0001})',
    'inheritanceExists': True, 'growthExists': True, 'growthHeightExists': 
    False, 'growthWeightExists': False, 'growthOtherExists': True,
    'headAndNeckExists': True, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': True, 'headAndNeckEarsExists': False,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': True, 'cardiovascularExists': False,
    'cardiovascularHeartExists': False, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': False, 'respiratoryNasopharynxExists': 
    False, 'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': 
    False, 'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': True,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': True, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613309, 'prefix': '#', 'preferredTitle':
    'DIAMOND-BLACKFAN ANEMIA 10; DBA10', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'growthHeight':
    'Short stature (in some patients) {UMLS C2751301} {HPO HP:0004322 C0349588}'
    , 'growthOther':
    'Poor growth (in some patients) {UMLS C3280954} {HPO HP:0001510 C0151686,C0456070,C0878787,C1837385,C3552463}'
    , 'headAndNeckFace':
    """Mandibulofacial dysostosis (in some patients) {UMLS C4229856} {HPO HP:0005321 C0242387};
Micrognathia (in some patients) {UMLS C3277936} {HPO HP:0000347 C0025990,C0240295,C1857130} {EOM ID:8bbf61b4ad7ca2ef IMG:Micrognathia-small.jpg};
Malar hypoplasia (in some patients) {UMLS C4229855} {HPO HP:0000272 C1858085,C4280651} {EOM ID:81db216382f501fc IMG:Malar_Flattening-small.jpg}"""
    , 'headAndNeckEars':
    """Microtia (in some patients) {UMLS C4229854} {HPO HP:0008551 C0152423};
External auditory canal atresia (in some patients) {UMLS C4229853} {HPO HP:0000413 C1398325,C1840305,C1857079,C1866190};
Low-set ears (in some patients) {UMLS C3553628} {HPO HP:0000369 C0239234};
Posteriorly rotated ears (in some patients) {UMLS C3550632} {HPO HP:0000358 C0431478};
Conductive hearing loss (in some patients) {UMLS C3276776} {HPO HP:0000405 C0018777}"""
    , 'headAndNeckNose':
    'Choanal atresia (in some patients) {UMLS C3552333} {HPO HP:0000453 C0008297}'
    , 'headAndNeckMouth':
    'Cleft palate (in some patients) {UMLS C3275332} {HPO HP:0000175 C0008925,C2981150}'
    , 'headAndNeckNeck':
    'Wide neck (in some patients) {UMLS C4229852} {HPO HP:0000475 C1853638} {EOM ID:1f45b748bb5aa8fe IMG:Neck,Broad-small.jpg}'
    , 'cardiovascularHeart':
    'Ventricular septal defect (in some patients) {UMLS C1843489} {HPO HP:0001629 C0018818}'
    , 'cardiovascularVascular':
    'Patent ductus arteriosus (in some patients) {UMLS C3280787} {HPO HP:0001643 C0013274}'
    , 'respiratory':
    'Respiratory difficulties (in some patients) {UMLS C4227383} {HPO HP:0002098 C0013404,C0476273}'
    , 'chestDiaphragm':
    'Diaphragmatic hernia (in some patients) {UMLS C3278412} {HPO HP:0000776 C0235833}'
    , 'genitourinaryKidneys':
    """Duplicated kidney (in some patients) {UMLS C4229858};
Renal ectopia (in some patients) {UMLS C4229857} {HPO HP:0000086 C0238207}"""
    , 'hematology':
    """Macrocytic anemia {SNOMEDCT:83414005} {UMLS C1420653,C0002886 HP:0001972} {HPO HP:0001972 C0002886};
Increased fetal hemoglobin {UMLS C0239941 HP:0011904};
Increased erythrocyte adenosine deaminase activity {UMLS C4230444};
Reticulocytopenia {SNOMEDCT:124961001} {UMLS C0858867 HP:0001896} {HPO HP:0001896 C0858867};
Bone marrow shows decreased erythroid progenitors {UMLS C4229851}"""
    , 'miscellaneous':
    """Onset in infancy {UMLS C1848924 HP:0003593} {HPO HP:0003593 C1848924};
Variable expressivity, even within families {UMLS C4229849}"""
    , 'molecularBasis':
    'Caused by mutation in the ribosomal protein S26 gene (RPS26, {603701.0001})'
    , 'inheritanceExists': True, 'growthExists': True, 'growthHeightExists':
    True, 'growthWeightExists': False, 'growthOtherExists': True,
    'headAndNeckExists': True, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': True, 'headAndNeckEarsExists': True,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': True,
    'headAndNeckMouthExists': True, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': True, 'cardiovascularExists': True,
    'cardiovascularHeartExists': True, 'cardiovascularVascularExists': True,
    'respiratoryExists': True, 'respiratoryNasopharynxExists': False,
    'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': False,
    'respiratoryLungExists': False, 'chestExists': True,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': True,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': True,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': True, 'genitourinaryUretersExists': False,
    'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': True,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613310, 'prefix': '#', 'preferredTitle':
    'EXUDATIVE VITREORETINOPATHY 5; EVR5', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'headAndNeckEyes':
    """Avascularity of peripheral retina {UMLS C3808307};
Retinal exudates {SNOMEDCT:39832008} {UMLS C0240897 HP:0001147} {HPO HP:0001147 C0240897};
Decreased visual acuity (in some patients) {UMLS C3554187} {HPO HP:0007663 C0234632};
Tractional retinal detachment (in some patients) {UMLS C3808308} {HPO HP:0007917 C1866178};
Shallow anterior chamber (in some patients) {UMLS C3808309} {HPO HP:0000594 C0423276};
Nasally displaced pupils (in some patients) {UMLS C3808310};
Abnormal vascularization of the iris on indocyanine green angiography (in some patients) {UMLS C3808311}"""
    , 'miscellaneous':
    """Visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment {UMLS C3808313};
Severely affected individuals may carry 2 mutated alleles {UMLS C3808314}"""
    , 'molecularBasis':
    'Caused by mutation in the tetraspanin-12 gene (TSPAN12, {613138.0001})',
    'inheritanceExists': True, 'growthExists': False, 'growthHeightExists':
    False, 'growthWeightExists': False, 'growthOtherExists': False,
    'headAndNeckExists': True, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': False, 'headAndNeckEarsExists': False,
    'headAndNeckEyesExists': True, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': False, 'cardiovascularExists': False,
    'cardiovascularHeartExists': False, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': False, 'respiratoryNasopharynxExists': 
    False, 'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': 
    False, 'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613370, 'prefix': '#', 'preferredTitle':
    'MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'endocrineFeatures':
    'Diabetes mellitus {SNOMEDCT:73211009} {ICD10CM:E08-E13} {ICD9CM:250} {UMLS C0011849 HP:0000819} {HPO HP:0000819 C0011849}'
    , 'miscellaneous':
    """Diagnosed in second or third decade of life {UMLS C3278782};
Occasionally low-dose insulin required {UMLS C3278783}"""
    , 'molecularBasis':
    'Caused by mutation in the insulin gene (INS, {176730.0014})',
    'inheritanceExists': True, 'growthExists': False, 'growthHeightExists':
    False, 'growthWeightExists': False, 'growthOtherExists': False,
    'headAndNeckExists': False, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': False, 'headAndNeckEarsExists': False,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': False, 'cardiovascularExists': False,
    'cardiovascularHeartExists': False, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': False, 'respiratoryNasopharynxExists': 
    False, 'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': 
    False, 'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': True, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613312, 'prefix': '#', 'preferredTitle':
    'HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2',
    'inheritance':
    'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}'
    , 'growthHeight':
    'Short stature {SNOMEDCT:422065006,237837007,237836003} {ICD10CM:R62.52,E34.3} {ICD9CM:783.43} {UMLS C0013336,C0349588,C2237041,C2919142 HP:0004322,HP:0003510} {HPO HP:0004322 C0349588}'
    , 'headAndNeckTeeth':
    """Hypoplastic teeth (in 1 patient) {UMLS C4747623} {HPO HP:0000685 C0235357,C4280611};
Dental caries (rare) {UMLS C4747624} {HPO HP:0000670 C0011334,C4280623}"""
    , 'cardiovascularHeart':
    'Thickening of aortic valves (in 1 patient) {UMLS C4747633}',
    'cardiovascularVascular':
    """Aortic root dissection (in 1 patient) {UMLS C4747634};
Pulmonary stenosis, mild (in 1 patient) {UMLS C4747635} {HPO HP:0001642 C1956257}"""
    , 'genitourinaryKidneys':
    'Medullary nephrocalcinosis (in 1 patient) {UMLS C4747622} {HPO HP:0012408 C0403477}'
    , 'skeletal':
    'Delayed bone age {SNOMEDCT:123983008} {UMLS C0541764 HP:0002750} {HPO HP:0002750 C0541764}'
    , 'skeletalPelvis':
    'Coxa valga (in 1 patient) {UMLS C4313573} {HPO HP:0002673 C0239137,C3549698}'
    , 'skeletalLimbs':
    """Slight widening of the wrist {UMLS C4747625};
Widening of growth pate of radius {UMLS C4747626};
Widening of growth plate of ulna {UMLS C4747627};
Cupping of growth plate of radius {UMLS C4747628};
Cupping of growth plate of ulna {UMLS C4747629};
Bowing of femur {UMLS C1859461 HP:0002980};
Genu valgum {SNOMEDCT:52012001,299330008} {ICD10CM:M21.06} {ICD9CM:736.41} {UMLS C0576093,C0158484 HP:0002857} {HPO HP:0002857 C0576093};
Genu varum {SNOMEDCT:64925008,299331007} {ICD10CM:M21.16} {ICD9CM:736.42} {UMLS C0158485,C0544755 HP:0002970,HP:0002979} {HPO HP:0002970 C0544755};
Bowing of tibia {UMLS C1837081 HP:0002982}"""
    , 'laboratoryAbnormalities':
    """Hypophosphatemia {SNOMEDCT:4996001} {UMLS C0595888,C0085682,C4554637 HP:0002148} {HPO HP:0002148 C0085682};
Hyperphosphaturia {SNOMEDCT:85487008,22450000} {UMLS C0268079,C0282201,C0948023 HP:0003109} {HPO HP:0003109 C0268079,C0948023};
Elevated plasma alkaline phosphatase {UMLS C4747630};
Normal calcium level {UMLS C0860970};
Normal calcium excretion {UMLS C4747631};
Normal PTH {UMLS C0858303};
Normal vitamin D metabolites {UMLS C4747632}"""
    , 'miscellaneous':
    """Normal renal function {SNOMEDCT:81141003} {UMLS C0232805};
No vascular or periarticular calcifications {UMLS C4747637}"""
    , 'molecularBasis':
    'Caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (ENPP1, {173335.0010})'
    , 'inheritanceExists': True, 'growthExists': True, 'growthHeightExists':
    True, 'growthWeightExists': False, 'growthOtherExists': False,
    'headAndNeckExists': True, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': False, 'headAndNeckEarsExists': False,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': True,
    'headAndNeckNeckExists': False, 'cardiovascularExists': True,
    'cardiovascularHeartExists': True, 'cardiovascularVascularExists': True,
    'respiratoryExists': False, 'respiratoryNasopharynxExists': False,
    'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': False,
    'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': True,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': True, 'genitourinaryUretersExists': False,
    'genitourinaryBladderExists': False, 'skeletalExists': True,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': True, 'skeletalLimbsExists': True,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': True, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613371, 'prefix': '%', 'preferredTitle':
    'SPINOCEREBELLAR ATAXIA 30; SCA30', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'headAndNeckEyes':
    """Hypermetric saccades {SNOMEDCT:246769000} {UMLS C0423083 HP:0007338} {HPO HP:0007338 C0423083};
Gaze-evoked nystagmus (1 patient) {UMLS C3278786} {HPO HP:0000640 C0271390}"""
    , 'neurologicCentralNervousSystem':
    """Ataxia, gait and appendicular {UMLS C3278784};
Dysarthria {SNOMEDCT:8011004} {ICD9CM:438.13,784.51} {UMLS C0013362,C4553903 HP:0001260} {HPO HP:0001260 C0013362};
Hyperreflexia, lower limbs, mild {UMLS C3278785};
Cerebellar atrophy {UMLS C0740279 HP:0001272} {HPO HP:0001272 C0262404,C0740279,C4020873}"""
    , 'miscellaneous':
    """Adult onset (45 to 76 years) {UMLS C3278787} {HPO HP:0003581 C1853562};
Insidious onset {SNOMEDCT:367326009} {UMLS C1298634 HP:0003587} {HPO HP:0003587 C0332164,C1298634};
Slow progression {UMLS C1854494 HP:0003677} {HPO HP:0003677 C1854494};
One family has been reported (as of 4/2010) {UMLS C3278788}"""
    , 'inheritanceExists': True, 'growthExists': False,
    'growthHeightExists': False, 'growthWeightExists': False,
    'growthOtherExists': False, 'headAndNeckExists': True,
    'headAndNeckHeadExists': False, 'headAndNeckFaceExists': False,
    'headAndNeckEarsExists': False, 'headAndNeckEyesExists': True,
    'headAndNeckNoseExists': False, 'headAndNeckMouthExists': False,
    'headAndNeckTeethExists': False, 'headAndNeckNeckExists': False,
    'cardiovascularExists': False, 'cardiovascularHeartExists': False,
    'cardiovascularVascularExists': False, 'respiratoryExists': False,
    'respiratoryNasopharynxExists': False, 'respiratoryLarynxExists': False,
    'respiratoryAirwaysExists': False, 'respiratoryLungExists': False,
    'chestExists': False, 'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': True,
    'neurologicCentralNervousSystemExists': True,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': False, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613313, 'prefix': '#', 'preferredTitle':
    'HEMOCHROMATOSIS, TYPE 2B; HFE2B', 'inheritance':
    'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}'
    , 'cardiovascularHeart':
    """Heart failure {SNOMEDCT:84114007,42343007} {ICD10CM:I50,I50.9} {ICD9CM:428,428.9,428.0} {UMLS C0018801,C0018802,C4554158 HP:0001635} {HPO HP:0001635 C0018801,C0018802};
Cardiomyopathy {SNOMEDCT:57809008,85898001} {ICD10CM:I42,I51.5,I42.9} {ICD9CM:425} {UMLS C0878544 HP:0001638} {HPO HP:0001638 C0878544}"""
    , 'abdomenLiver':
    """Fibrosis {SNOMEDCT:263756000,112674009} {UMLS C0016059,C4285457};
Cirrhosis {SNOMEDCT:19943007} {ICD10CM:K74.60} {UMLS C1623038,C0023890 HP:0001394} {HPO HP:0001394 C0023890};
Hepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209}"""
    , 'abdomenSpleen':
    'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}'
    , 'genitourinaryExternalGenitaliaMale':
    'Hypogonadism {SNOMEDCT:48130008} {UMLS C0020619 HP:0000135} {HPO HP:0000135 C0020619}'
    , 'genitourinaryExternalGenitaliaFemale':
    'Hypogonadism {SNOMEDCT:48130008} {UMLS C0020619 HP:0000135} {HPO HP:0000135 C0020619}'
    , 'skinNailsHairSkin':
    'Hyperpigmentation {SNOMEDCT:4830009,49765009} {UMLS C1962962,C0162834 HP:0000953}'
    , 'hematology':
    'Anemia {SNOMEDCT:271737000} {ICD10CM:D64.9} {ICD9CM:285.9} {UMLS C0002871,C4554633,C1000483 HP:0001903} {HPO HP:0001903 C0002871,C0162119}'
    , 'laboratoryAbnormalities':
    """Increased serum iron {SNOMEDCT:165624002} {UMLS C0151900 HP:0003452} {HPO HP:0003452 C0151900};
Increased serum ferritin {UMLS C0241013 HP:0003281} {HPO HP:0003281 C0241013,C0743912,C3854388};
Increased transaminases {UMLS C0438717 HP:0002910} {HPO HP:0002910 C0086565,C0151766,C0235996,C0438237,C0438717,C0877359,C1842003,C1848701};
Increased or complete (100%) transferrin saturation {UMLS C4478919}"""
    , 'miscellaneous':
    'Onset is usually before 30 years of age {UMLS C4478921}',
    'molecularBasis':
    'Caused by mutation in the hepcidin antimicrobial peptide gene (HAMP, {606464.0001})'
    , 'inheritanceExists': True, 'growthExists': False,
    'growthHeightExists': False, 'growthWeightExists': False,
    'growthOtherExists': False, 'headAndNeckExists': False,
    'headAndNeckHeadExists': False, 'headAndNeckFaceExists': False,
    'headAndNeckEarsExists': False, 'headAndNeckEyesExists': False,
    'headAndNeckNoseExists': False, 'headAndNeckMouthExists': False,
    'headAndNeckTeethExists': False, 'headAndNeckNeckExists': False,
    'cardiovascularExists': True, 'cardiovascularHeartExists': True,
    'cardiovascularVascularExists': False, 'respiratoryExists': False,
    'respiratoryNasopharynxExists': False, 'respiratoryLarynxExists': False,
    'respiratoryAirwaysExists': False, 'respiratoryLungExists': False,
    'chestExists': False, 'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': True, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': True, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': True,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': True,
    'genitourinaryExternalGenitaliaMaleExists': True,
    'genitourinaryExternalGenitaliaFemaleExists': True,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': True, 'skinNailsHairSkinExists': True,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': True,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': True, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613375, 'prefix': '#', 'preferredTitle':
    'MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'growthWeight':
    """Overweight {SNOMEDCT:238131007} {ICD10CM:E66.3} {ICD9CM:278.02} {UMLS C0497406 HP:0025502} {HPO HP:0025502};
Obesity {SNOMEDCT:414915002,414916001} {ICD10CM:E66.9} {ICD9CM:278.00} {UMLS C1963185,C0028754 HP:0001513} {HPO HP:0001513 C0028754}"""
    , 'endocrineFeatures':
    'Diabetes mellitus {SNOMEDCT:73211009} {ICD10CM:E08-E13} {ICD9CM:250} {UMLS C0011849 HP:0000819} {HPO HP:0000819 C0011849}'
    , 'miscellaneous':
    'Some patients require insulin for treatment {UMLS C3278790}',
    'molecularBasis':
    'Caused by mutation in the BLK nonreceptor tyrosine kinase gene (BLK, {191305.0001})'
    , 'inheritanceExists': True, 'growthExists': True, 'growthHeightExists':
    False, 'growthWeightExists': True, 'growthOtherExists': False,
    'headAndNeckExists': False, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': False, 'headAndNeckEarsExists': False,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': False, 'cardiovascularExists': False,
    'cardiovascularHeartExists': False, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': False, 'respiratoryNasopharynxExists': 
    False, 'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': 
    False, 'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': True, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613319, 'prefix': '#', 'preferredTitle':
    'MIYOSHI MUSCULAR DYSTROPHY 3; MMD3', 'inheritance':
    'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}'
    , 'muscleSoftTissue':
    """Distal muscle weakness {SNOMEDCT:249942005} {UMLS C0427065 HP:0002460} {HPO HP:0002460 C0427065,C1864696};
Inability to stand on tiptoes {UMLS C3150479};
Calf muscle discomfort {UMLS C3150480};
Calf muscle weakness {SNOMEDCT:309249007} {UMLS C0586738};
Calf hypertrophy (early in the disease) {UMLS C3150481} {HPO HP:0008981 C1843057};
Calf atrophy (later onset) {UMLS C3150482};
Hypertrophy of the extensor digitorum brevis muscles {UMLS C3150483};
MRI shows fatty infiltration of affected muscles {UMLS C1864710};
Difficulty running {SNOMEDCT:282479002} {UMLS C0560346 HP:0009046} {HPO HP:0009046 C0560346};
Difficulty climbing stairs {SNOMEDCT:282195009} {UMLS C0239067 HP:0003551} {HPO HP:0003551 C0239067};
Difficulty rising from chair {UMLS C3150484};
Proximal lower limb muscle weakness, upper and lower (later onset) {UMLS C3150485};
Quadriceps atrophy (later onset) {UMLS C3150486};
Muscle weakness and atrophy may be asymmetric {UMLS C3150487};
Disruption of the sarcolemmal membrane seen on muscle biopsy {UMLS C3552741}"""
    , 'laboratoryAbnormalities':
    'Increased serum creatine kinase {UMLS C0241005 HP:0003236} {HPO HP:0003236 C0151576,C0241005}'
    , 'miscellaneous':
    """Onset age 20 to 51 years {UMLS C3150489};
Independent ambulation is maintained {UMLS C3150490};
Variable severity {UMLS C1861403 HP:0003828} {HPO HP:0003828 C1861403,C1866862};
Female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase {UMLS C3552743};
Limb-girdle muscular dystrophy type 2L (LGMD2L, {611307}) is an allelic disorder"""
    , 'molecularBasis':
    'Caused by mutation in the anoctamin 5 gene (ANO5, {608662.0004})',
    'inheritanceExists': True, 'growthExists': False, 'growthHeightExists':
    False, 'growthWeightExists': False, 'growthOtherExists': False,
    'headAndNeckExists': False, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': False, 'headAndNeckEarsExists': False,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': False, 'cardiovascularExists': False,
    'cardiovascularHeartExists': False, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': False, 'respiratoryNasopharynxExists': 
    False, 'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': 
    False, 'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': True, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': True, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613376, 'prefix': '#', 'preferredTitle':
    'NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'muscleSoftTissue':
    """Distal lower and upper limb muscle atrophy {UMLS C1848736 HP:0003693};
Atrophy of the intrinsic foot and hand muscles {UMLS C3150622}"""
    , 'neurologicPeripheralNervousSystem':
    """Muscle weakness, distal {SNOMEDCT:249942005} {UMLS C0427065 HP:0002460} {HPO HP:0002460 C0427065,C1864696};
Distal lower limb muscle weakness {UMLS C1836450 HP:0009053} {HPO HP:0009053 C1836450};
Distal upper limb muscle weakness {UMLS C3150620 HP:0008959} {HPO HP:0008959 C3150620};
Steppage gait {SNOMEDCT:27253007} {UMLS C0427149 HP:0003376} {HPO HP:0003376 C0427149};
Difficulty walking {SNOMEDCT:719232003,228158008} {ICD9CM:719.7} {UMLS C0311394 HP:0002355} {HPO HP:0002355 C0311394};
EMG shows neurogenic abnormalities {UMLS C1846832};
Neurophysiologic studies show a predominantly motor neuropathy {UMLS C2750686};
Hyporeflexia of lower limbs {UMLS C1834696 HP:0002600} {HPO HP:0002600 C1834696};
Areflexia of lower limbs {UMLS C1856694 HP:0002522} {HPO HP:0002522 C1856694};
No or mild distal sensory deficit {UMLS C3150621}"""
    , 'miscellaneous':
    """Onset in early twenties {UMLS C3150624};
Slowly progressive {UMLS C1854494 HP:0003677} {HPO HP:0003677 C1854494};
Lower limb involvement occurs before upper limb involvement {UMLS C3150625};
One family has been reported {UMLS C2750513}"""
    , 'molecularBasis':
    'Caused by mutation in the heat-shock 27-kD protein 3 gene (HSPB3, {604624.0001}).'
    , 'inheritanceExists': True, 'growthExists': False,
    'growthHeightExists': False, 'growthWeightExists': False,
    'growthOtherExists': False, 'headAndNeckExists': False,
    'headAndNeckHeadExists': False, 'headAndNeckFaceExists': False,
    'headAndNeckEarsExists': False, 'headAndNeckEyesExists': False,
    'headAndNeckNoseExists': False, 'headAndNeckMouthExists': False,
    'headAndNeckTeethExists': False, 'headAndNeckNeckExists': False,
    'cardiovascularExists': False, 'cardiovascularHeartExists': False,
    'cardiovascularVascularExists': False, 'respiratoryExists': False,
    'respiratoryNasopharynxExists': False, 'respiratoryLarynxExists': False,
    'respiratoryAirwaysExists': False, 'respiratoryLungExists': False,
    'chestExists': False, 'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': True, 'neurologicExists': True,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': True,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613320, 'prefix': '#', 'preferredTitle':
    'SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM',
    'inheritance':
    'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}'
    , 'growthHeight': 'Short stature, pre- and postnatal {UMLS C3150493}',
    'growthWeight':
    'Low birth weight {SNOMEDCT:267258002,276610007} {UMLS C0024032 HP:0001518} {HPO HP:0001518 C0024032,C0235991}'
    , 'headAndNeckHead':
    """Large fontanelles {SNOMEDCT:276709006} {UMLS C0456132 HP:0000239} {HPO HP:0000239 C0456132,C4072820,C4072821,C4072822};
Prominent forehead {UMLS C1837260 HP:0011220} {HPO HP:0011220 C1837260,C1867446} {EOM ID:510a51e4083c1d6f IMG:Forehead,Prominent-small.jpg}"""
    , 'headAndNeckFace':
    'Round face {UMLS C0239479 HP:0000311} {HPO HP:0000311 C0239479,C1856468} {EOM ID:a98d48239172dc71 IMG:Face,Round-small.jpg}'
    , 'headAndNeckEars':
    """Small ears {SNOMEDCT:35045004} {ICD10CM:Q17.2} {ICD9CM:744.23} {UMLS C0152423 HP:0008551} {HPO HP:0008551 C0152423};
Low-set ears {SNOMEDCT:95515009} {ICD10CM:Q17.4} {UMLS C0239234 HP:0000369} {HPO HP:0000369 C0239234}"""
    , 'headAndNeckNose':
    """Depressed nasal bridge {UMLS C1836542 HP:0005280} {HPO HP:0005280 C1836542,C3550546,C4280495} {EOM ID:000fb29123c16757 IMG:Nasal_Bridge,Depressed-small.jpg};
Short nose {UMLS C1854114 HP:0003196} {HPO HP:0003196 C0426414,C1854114} {EOM ID:daeb9fb85b0b970f IMG:Nose,Short-small.jpg};
Wide nostrils {SNOMEDCT:399353008} {UMLS C0426440 HP:0009931};
Anteverted nares {SNOMEDCT:708670007} {UMLS C1840077 HP:0000463} {HPO HP:0000463 C1840077} {EOM ID:d7284223e790d7aa IMG:Nares,Anteverted-small.jpg};
Increased nasal width {SNOMEDCT:249321001} {UMLS C0426421 HP:0000445} {HPO HP:0000445 C0426421}"""
    , 'headAndNeckMouth':
    'Deep philtrum {UMLS C1839797 HP:0002002} {HPO HP:0002002 C1839797,C4020861} {EOM ID:3c771454d4293f5e IMG:Philtrum,Deep-small.jpg}'
    , 'headAndNeckNeck':
    'Short neck {SNOMEDCT:95427009} {UMLS C0521525 HP:0000470} {HPO HP:0000470 C0521525} {EOM ID:c75e63fd749ec7a8 IMG:Neck,Short-small.jpg}'
    , 'cardiovascularHeart':
    """Cardiomegaly {SNOMEDCT:8186001} {ICD10CM:I51.7} {ICD9CM:429.3} {UMLS C0018800 HP:0001640} {HPO HP:0001640 C0018800};
Global left ventricular hypokinesia {UMLS C4229844};
Right atrium dilatation {UMLS C4229843};
Pulmonary hypertension {SNOMEDCT:70995007} {ICD10CM:I27.20} {UMLS C0020542,C1963220}"""
    , 'respiratory':
    'Tachypnea {SNOMEDCT:271823003} {ICD10CM:R06.82} {ICD9CM:786.06} {UMLS C0231835 HP:0002789} {HPO HP:0002789 C0231835}'
    , 'chestExternalFeatures':
    """Narrow chest {SNOMEDCT:249671009} {UMLS C0426790 HP:0000774} {HPO HP:0000774 C0426790};
Bell-shaped thorax {UMLS C1865186 HP:0001591} {HPO HP:0001591 C1865186}"""
    , 'chestRibsSternumClaviclesAndScapulae':
    """Short ribs {SNOMEDCT:249696007} {UMLS C0426817 HP:0000773} {HPO HP:0000773 C0426817};
Cupped end ribs {UMLS C3150492}"""
    , 'abdomenExternalFeatures': 'Prominent abdomen {UMLS C1850290}',
    'skeletal':
    'Delayed bone age {SNOMEDCT:123983008} {UMLS C0541764 HP:0002750} {HPO HP:0002750 C0541764}'
    , 'skeletalSkull':
    'Wormian bones {SNOMEDCT:113194005} {UMLS C0222716 HP:0002645} {HPO HP:0002645 C0222716}'
    , 'skeletalSpine':
    """Severe platyspondyly {UMLS C1850293 HP:0004565} {HPO HP:0004565 C1850293};
Slightly ovoid vertebrae {UMLS C4229848};
Partial sacral agenesis {SNOMEDCT:253189008} {UMLS C0431414 HP:0008455} {HPO HP:0008455 C1851305};
Decrease in interpedicular distance in the lumbar vertebrae {UMLS C4229846}"""
    , 'skeletalPelvis':
    """Square iliac bones {UMLS C1838186 HP:0003177} {HPO HP:0003177 C1838186};
Horizontal acetabula with medial and lateral spurs {UMLS C3150495};
Hypoplastic ischia {UMLS C1859447 HP:0003175} {HPO HP:0003175 C1859447};
Lacy appearance of iliac crest {UMLS C1857186 HP:0008786} {HPO HP:0008786 C1857186};
Trident acetabula {UMLS C3810182}"""
    , 'skeletalLimbs':
    """Short limbs {UMLS C0239399 HP:0009826} {HPO HP:0009826 C0239399};
Short long bones {UMLS C1854912 HP:0003026};
Slight widening of the distal femoral metaphyses {UMLS C3150496};
Absence of epiphyseal ossification of the knees {UMLS C3150497};
Abnormal modeling of the long bones {UMLS C4229845};
Bowed femora {UMLS C1859461 HP:0002980};
Metaphyseal cupping {UMLS C1837082 HP:0003021} {HPO HP:0003021 C1837082}"""
    , 'neurologicCentralNervousSystem':
    """Developmental delay {SNOMEDCT:248290002,224958001} {ICD10CM:F88} {ICD9CM:315.9} {UMLS C0424605,C0557874 HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};
Axial hypotonia {UMLS C1853743 HP:0008936} {HPO HP:0008936 C1853743}"""
    , 'miscellaneous':
    """Bone abnormalities improve with age {UMLS C3150498};
Reduced longevity {UMLS C4229841};
Two consanguineous Lebanese families have been reported (last curated March 2015) {UMLS C4229840}"""
    , 'molecularBasis':
    'Caused by mutation in the homolog of the S. cerevisiae presequence translocase-associated motor 16 gene (PAM16, {614336.0001})'
    , 'inheritanceExists': True, 'growthExists': True, 'growthHeightExists':
    True, 'growthWeightExists': True, 'growthOtherExists': False,
    'headAndNeckExists': True, 'headAndNeckHeadExists': True,
    'headAndNeckFaceExists': True, 'headAndNeckEarsExists': True,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': True,
    'headAndNeckMouthExists': True, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': True, 'cardiovascularExists': True,
    'cardiovascularHeartExists': True, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': True, 'respiratoryNasopharynxExists': False,
    'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': False,
    'respiratoryLungExists': False, 'chestExists': True,
    'chestExternalFeaturesExists': True,
    'chestRibsSternumClaviclesAndScapulaeExists': True,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': True, 'abdomenExternalFeaturesExists': True,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': True,
    'skeletalSkullExists': True, 'skeletalSpineExists': True,
    'skeletalPelvisExists': True, 'skeletalLimbsExists': True,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': True,
    'neurologicCentralNervousSystemExists': True,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613382, 'prefix': '#', 'preferredTitle':
    'BRACHYDACTYLY, TYPE E2; BDE2', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'growthHeight':
    'Short stature {SNOMEDCT:422065006,237837007,237836003} {ICD10CM:R62.52,E34.3} {ICD9CM:783.43} {UMLS C0013336,C0349588,C2237041,C2919142 HP:0004322,HP:0003510} {HPO HP:0004322 C0349588}'
    , 'headAndNeckTeeth':
    """Delayed eruption, primary and secondary (in some patients) {UMLS C3150645};
Oligodontia (in some patients) {UMLS C3150646} {HPO HP:0000677 C4082304,C4280619}"""
    , 'skeletalHands': 'Short metacarpals, III-V {UMLS C3150647}',
    'skeletalFeet':
    'Short metatarsals {UMLS C1849020 HP:0010743} {HPO HP:0010743 C1849020}',
    'molecularBasis':
    'Caused by mutation in the parathyroid hormone-like hormone gene (PTHLH, {168470.0001})'
    , 'inheritanceExists': True, 'growthExists': True, 'growthHeightExists':
    True, 'growthWeightExists': False, 'growthOtherExists': False,
    'headAndNeckExists': True, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': False, 'headAndNeckEarsExists': False,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': True,
    'headAndNeckNeckExists': False, 'cardiovascularExists': False,
    'cardiovascularHeartExists': False, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': False, 'respiratoryNasopharynxExists': 
    False, 'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': 
    False, 'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': True,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': True, 'skeletalFeetExists': True,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': False,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613325, 'prefix': '#', 'preferredTitle':
    'RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2', 'inheritance':
    'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}'
    , 'neoplasia':
    """Rhabdoid tumors, malignant {SNOMEDCT:83118000} {UMLS C0206743};
Small cell carcinoma of the ovary, hypercalcemic type {UMLS C4013716}"""
    , 'miscellaneous':
    'Increased risk of developing early-onset aggressive cancers {UMLS C4013718}'
    , 'molecularBasis':
    'Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 gene (SMARCA4, {603254.0001})'
    , 'inheritanceExists': True, 'growthExists': False,
    'growthHeightExists': False, 'growthWeightExists': False,
    'growthOtherExists': False, 'headAndNeckExists': False,
    'headAndNeckHeadExists': False, 'headAndNeckFaceExists': False,
    'headAndNeckEarsExists': False, 'headAndNeckEyesExists': False,
    'headAndNeckNoseExists': False, 'headAndNeckMouthExists': False,
    'headAndNeckTeethExists': False, 'headAndNeckNeckExists': False,
    'cardiovascularExists': False, 'cardiovascularHeartExists': False,
    'cardiovascularVascularExists': False, 'respiratoryExists': False,
    'respiratoryNasopharynxExists': False, 'respiratoryLarynxExists': False,
    'respiratoryAirwaysExists': False, 'respiratoryLungExists': False,
    'chestExists': False, 'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': True,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613327, 'prefix': '#', 'preferredTitle':
    'LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4', 'inheritance':
    'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}'
    , 'growthOther':
    'Failure to thrive {SNOMEDCT:54840006,433476000,432788009} {ICD10CM:R62.51} {ICD9CM:783.41} {UMLS C2315100,C0015544,C3887638 HP:0001508} {HPO HP:0001508 C0231246,C2315100}'
    , 'cardiovascularHeart':
    """Long QT syndrome {SNOMEDCT:111975006,9651007} {ICD10CM:I45.81} {ICD9CM:426.82} {UMLS C0023976,C0151878 HP:0001657} {HPO HP:0001657 C0151878};
Atrial fibrillation {SNOMEDCT:164889003,49436004} {ICD9CM:427.31} {UMLS C0344434,C0004238,C2926591,C1963067 HP:0005110} {HPO HP:0005110 C0004238};
Arrhythmia {SNOMEDCT:698247007} {ICD10CM:I49.9} {ICD9CM:427,427.9} {UMLS C0003811 HP:0011675} {HPO HP:0011675 C0003811,C0264886,C0522055,C0855329,C1832603,C1842820};
Tachycardia {SNOMEDCT:86651002,3424008} {ICD10CM:R00.0} {ICD9CM:785.0} {UMLS C3827868,C0039231 HP:0001649} {HPO HP:0001649 C0039231,C4020868};
Bradycardia {SNOMEDCT:48867003} {ICD10CM:R00.1} {UMLS C0428977,C3812171 HP:0001662} {HPO HP:0001662 C0428977}"""
    , 'abdomenExternalFeatures':
    """Protruding abdomen {UMLS C1855750};
Prominent umbilicus {UMLS C1837795 HP:0001544} {HPO HP:0001544 C1837795}"""
    , 'abdomenLiver':
    """Hepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209};
Fatty liver {SNOMEDCT:197321007,442191002} {UMLS C0015695,C2711227 HP:0001397} {HPO HP:0001397 C2711227}"""
    , 'abdomenSpleen':
    'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}'
    , 'abdomenGastrointestinal':
    """Poor feeding {SNOMEDCT:78164000,299698007} {ICD10CM:R63.3} {UMLS C0576456,C0232466 HP:0011968} {HPO HP:0011968 C0232466};
Dysphagia {SNOMEDCT:40739000,288939007} {ICD10CM:R13.1,R13.10} {ICD9CM:787.2,787.20} {UMLS C0011168,C1560331 HP:0002015,HP:0200136} {HPO HP:0002015 C0011168};
Constipation {SNOMEDCT:14760008} {ICD10CM:K59.0,K59.00} {ICD9CM:564.0,564.00} {UMLS C1963087,C0009806,C3641755,C4084722,C4084723,C4084724 HP:0002019} {HPO HP:0002019 C0009806,C0237326};
Ileus {SNOMEDCT:710572000} {UMLS C1560456,C4019039,C1258215 HP:0002595} {HPO HP:0002595 C1258215};
Esophageal dilatation {SNOMEDCT:78974003,195565004} {ICD9CM:42.92} {UMLS C0740287,C0192389};
Esophageal dysmotility {SNOMEDCT:79962008,266434009} {ICD10CM:K22.4} {ICD9CM:530.5} {UMLS C0014858,C0014863 HP:0025271};
Hypertrophic pyloric stenosis {SNOMEDCT:48644003} {ICD10CM:Q40.0} {ICD9CM:750.5} {UMLS C0700639};
Smooth muscle hypertrophy in the gastrointestinal tract {UMLS C3150508}"""
    , 'skeletal':
    """Joint contractures {SNOMEDCT:7890003} {ICD10CM:M24.5} {ICD9CM:718.40,718.4} {UMLS C0009918 HP:0001371} {HPO HP:0001371 C0009917,C0009918,C0333068,C1850530};
Osteopenia {SNOMEDCT:312894000,78441005} {UMLS C0029453 HP:0000938} {HPO HP:0000938 C0029453,C0747078};
Osteoporosis {SNOMEDCT:64859006} {ICD10CM:Z82.62,M81.0} {ICD9CM:733.0,V17.81,733.00} {UMLS C4554622,C2911643,C0029456,C1962963 HP:0000939} {HPO HP:0000939 C0029456}"""
    , 'skeletalSpine':
    """Spinal rigidity {UMLS C1858025 HP:0003306} {HPO HP:0003306 C1858025};
Hyperlordosis {SNOMEDCT:249710008,61960001} {ICD10CM:M40.5} {UMLS C0024003 HP:0003307} {HPO HP:0003307 C0024003};
Scoliosis {SNOMEDCT:298382003,20944008,111266001} {ICD10CM:Q67.5,M41,M41.9} {UMLS C0559260,C0036439,C4552773,C0700208 HP:0002650} {HPO HP:0002650 C0037932,C0700208};
Atlanto-axial instability {UMLS C3150511}"""
    , 'skinNailsHairHair':
    """Acanthosis nigricans {SNOMEDCT:72129000,402599005} {ICD10CM:L83} {UMLS C0000889 HP:0000956} {HPO HP:0000956 C0000889};
Hirsutism (less common) {UMLS C3150512} {HPO HP:0001007 C0019572}"""
    , 'muscleSoftTissue':
    """Muscle weakness, proximal {SNOMEDCT:249939004} {UMLS C0221629 HP:0003701} {HPO HP:0003701 C0221629,C1838869};
Muscle weakness, generalized {ICD10CM:M62.81} {ICD9CM:728.87} {UMLS C0746674 HP:0003324} {HPO HP:0003324 C0746674};
Exercise intolerance {SNOMEDCT:267044007} {UMLS C0424551 HP:0003546} {HPO HP:0003546 C0424551};
Percussion-induced muscle mounding (muscle rippling) {UMLS C3150502};
Muscle hypertrophy {SNOMEDCT:249829006} {UMLS C0236033,C2265792 HP:0003712} {HPO HP:0003712 C2265792};
Prominent muscular appearance {UMLS C3150503};
Myalgia {SNOMEDCT:68962001} {ICD10CM:M79.1} {UMLS C0231528,C4552646 HP:0003326} {HPO HP:0003326 C0231528};
Muscle stiffness {SNOMEDCT:16046003} {UMLS C4085861,C0221170 HP:0003552} {HPO HP:0003552 C0221170};
Muscle biopsy shows dystrophic changes {UMLS C1864711 HP:0003560} {HPO HP:0003560 C0026850,C1864711};
Decreased sarcolemmal immunostaining for PTRF {UMLS C3150504};
Secondary loss of sarcolemmal caveolin-3 {UMLS C3150505};
Decreased caveolae in muscle tissue {UMLS C3150506};
Loss of subcutaneous fat, generalized {UMLS C3150507}"""
    , 'endocrineFeatures':
    """Hyperinsulinemia {SNOMEDCT:83469008,131103005} {ICD10CM:E16.1} {UMLS C0020459,C0852795 HP:0000842} {HPO HP:0000842 C0020459};
Insulin resistance {SNOMEDCT:48606007,763325000} {UMLS C0021655,C4049994 HP:0000855} {HPO HP:0000855 C0021655};
Acromegaloid features {UMLS C3150500};
Decreased growth hormone secretion (1 patient) {UMLS C3150501}"""
    , 'immunology':
    """Transient IgA deficiency (1 patient) {UMLS C3150509};
Recurrent infections {SNOMEDCT:451991000124106} {UMLS C0239998 HP:0002719} {HPO HP:0002719 C0239998};
Defective humoral immunity {UMLS C3150510 HP:0005368} {HPO HP:0005368 C3150510}"""
    , 'laboratoryAbnormalities':
    """Increased serum creatine kinase {UMLS C0241005 HP:0003236} {HPO HP:0003236 C0151576,C0241005};
Increased serum triglycerides {SNOMEDCT:166848004} {UMLS C0813230 HP:0002155} {HPO HP:0002155 C1522137};
Abnormal liver enzymes {SNOMEDCT:166643006} {UMLS C0438237 HP:0002910} {HPO HP:0002910 C0086565,C0151766,C0235996,C0438237,C0438717,C0877359,C1842003,C1848701}"""
    , 'miscellaneous':
    """Onset in infancy or early childhood {UMLS C1837138};
Sudden death due to cardiac arrhythmia may occur {UMLS C3150514}"""
    , 'molecularBasis':
    'Caused by mutation in the RNA polymerase I and transcript release factor gene (PTRF, {603198.0001})'
    , 'inheritanceExists': True, 'growthExists': True, 'growthHeightExists':
    False, 'growthWeightExists': False, 'growthOtherExists': True,
    'headAndNeckExists': False, 'headAndNeckHeadExists': False,
    'headAndNeckFaceExists': False, 'headAndNeckEarsExists': False,
    'headAndNeckEyesExists': False, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': False, 'cardiovascularExists': True,
    'cardiovascularHeartExists': True, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': False, 'respiratoryNasopharynxExists': 
    False, 'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': 
    False, 'respiratoryLungExists': False, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': True, 'abdomenExternalFeaturesExists': True,
    'abdomenLiverExists': True, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': True,
    'abdomenGastrointestinalExists': True, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': True,
    'skeletalSkullExists': False, 'skeletalSpineExists': True,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': True, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': True,
    'muscleSoftTissueExists': True, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': True, 'hematologyExists': False,
    'immunologyExists': True, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': True, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613385, 'prefix': '#', 'preferredTitle':
    'AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD',
    'inheritance':
    'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}'
    , 'growthHeight': 'Below 3rd percentile {UMLS C3278794}',
    'growthWeight': 'Below 3rd percentile {UMLS C3278794}',
    'headAndNeckHead':
    """Macrocephaly, relative {SNOMEDCT:3961000119101} {UMLS C1849075 HP:0004482} {HPO HP:0004482 C1849075};
Dolichocephaly {SNOMEDCT:72239002} {ICD10CM:Q67.2} {UMLS C0221358 HP:0000268} {HPO HP:0000268 C0221358,C4280653,C4280654,C4280655,C4280656} {EOM ID:e09c1185a1ef3e38 IMG:Dolichocephaly-small.jpg};
Prominent occiput {UMLS C1853737 HP:0000269} {HPO HP:0000269 C1853737,C4280652} {EOM ID:be559f6b4bd52c20 IMG:Occiput,Prominent-small.jpg};
Frontal bossing {SNOMEDCT:90145001} {UMLS C0221354 HP:0002007} {HPO HP:0002007 C0221354} {EOM ID:a223995bdef3e8d6 IMG:Frontal_Bossing-small.jpg}"""
    , 'headAndNeckFace':
    """Flattened midface {UMLS C3278797};
Small chin {UMLS C1839323 HP:0000331} {HPO HP:0000331 C1839323,C3697248}"""
    , 'headAndNeckEars':
    """Low-set ears {SNOMEDCT:95515009} {ICD10CM:Q17.4} {UMLS C0239234 HP:0000369} {HPO HP:0000369 C0239234};
Posteriorly rotated ears {SNOMEDCT:253251006} {UMLS C0431478 HP:0000358} {HPO HP:0000358 C0431478}"""
    , 'headAndNeckEyes':
    'Proptosis {SNOMEDCT:18265008} {ICD10CM:H05.20} {ICD9CM:376.30} {UMLS C0015300 HP:0000520} {HPO HP:0000520 C0015300,C1837760,C1848490,C1862425} {EOM ID:765f49f1e824f0d2 IMG:Proptosis-small.jpg}'
    , 'respiratoryLung':
    """Pneumonitis, cellular, nonspecific interstitial {UMLS C2750127};
Severe chronic lung disease {UMLS C3278799};
Respiratory failure, fatal (in some patients) {UMLS C3278800}"""
    , 'abdomenLiver':
    'Hepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209}'
    , 'abdomenSpleen':
    'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}'
    , 'abdomenGastrointestinal':
    """Enteropathy, autoimmune (in some patients) {UMLS C3278795};
Chronic diarrhea (in some patients) {UMLS C3278796} {HPO HP:0002028 C0401151}"""
    , 'skeletalHands':
    """Camptodactyly {SNOMEDCT:29271008} {UMLS C0221369,C0685409 HP:0012385} {HPO HP:0012385 C0685409} {EOM ID:e2dc697e402380a8 IMG:Camptodactyly-large-small.jpg};
Clinodactyly {SNOMEDCT:17268007} {UMLS C4551485,C0265610 HP:0030084,HP:0040019} {HPO HP:0030084 C0265610,C4280304} {EOM ID:483af428f909c76c IMG:Clinodactyly-small.jpg}"""
    , 'neurologicCentralNervousSystem':
    """Psychomotor delay {SNOMEDCT:398991009,224958001} {ICD10CM:F88} {UMLS C0424230,C0557874 HP:0025356,HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};
Global hypotonia {UMLS C3278793}"""
    , 'endocrineFeatures':
    """Hypothyroidism, autoantibody-positive (in some patients) {UMLS C3278791};
Diabetes mellitus, type 1 (rare) {UMLS C3278792}"""
    , 'molecularBasis':
    'Caused by mutation in the homolog of the mouse itchy gene (ITCH, {606409.0001})'
    , 'inheritanceExists': True, 'growthExists': True, 'growthHeightExists':
    True, 'growthWeightExists': True, 'growthOtherExists': False,
    'headAndNeckExists': True, 'headAndNeckHeadExists': True,
    'headAndNeckFaceExists': True, 'headAndNeckEarsExists': True,
    'headAndNeckEyesExists': True, 'headAndNeckNoseExists': False,
    'headAndNeckMouthExists': False, 'headAndNeckTeethExists': False,
    'headAndNeckNeckExists': False, 'cardiovascularExists': False,
    'cardiovascularHeartExists': False, 'cardiovascularVascularExists': 
    False, 'respiratoryExists': True, 'respiratoryNasopharynxExists': False,
    'respiratoryLarynxExists': False, 'respiratoryAirwaysExists': False,
    'respiratoryLungExists': True, 'chestExists': False,
    'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': True, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': True, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': True,
    'abdomenGastrointestinalExists': True, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': True,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': True, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': True,
    'neurologicCentralNervousSystemExists': True,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': True, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': False,
    'molecularBasisExists': True, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613328, 'preferredTitle': 'ROIFMAN-CHITAYAT SYNDROME',
    'inheritance':
    'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}'
    , 'headAndNeckFace':
    """Hypoplastic supraorbital ridges {UMLS C1861869 HP:0009891} {HPO HP:0009891 C1861869,C4020777} {EOM ID:c86a7dfe73086e4e IMG:Supraorbital_Ridges,Underdeveloped-small.jpg};
Square chin {UMLS C3150515}"""
    , 'headAndNeckEyes':
    """Lacrimal duct stenosis {SNOMEDCT:231841004} {UMLS C0238300 HP:0007678} {HPO HP:0007678 C0238300};
Thin optic nerves {UMLS C3151694};
Puffy and droopy eyelids {UMLS C3150517};
Hypertelorism {SNOMEDCT:22006008} {ICD10CM:Q75.2} {ICD9CM:376.41} {UMLS C0020534 HP:0000316} {HPO HP:0000316 C0020534} {EOM ID:71d9f1be67c7f8b6 IMG:Eyes,Widely_Spaced-small.jpg}"""
    , 'headAndNeckNose':
    """Flat nasal bridge {UMLS C1836542 HP:0005280} {HPO HP:0005280 C1836542,C3550546,C4280495} {EOM ID:000fb29123c16757 IMG:Nasal_Bridge,Depressed-small.jpg};
Broad nasal root {SNOMEDCT:249321001} {UMLS C1849367 HP:0000431} {HPO HP:0000431 C1839764,C1849367}"""
    , 'headAndNeckMouth':
    'Thin lower lip {UMLS C2053440 HP:0010282} {HPO HP:0010282 C2053440}',
    'headAndNeckNeck':
    'Short neck {SNOMEDCT:95427009} {UMLS C0521525 HP:0000470} {HPO HP:0000470 C0521525} {EOM ID:c75e63fd749ec7a8 IMG:Neck,Short-small.jpg}'
    , 'cardiovascularVascular':
    'Aberrant subclavian artery {SNOMEDCT:93353003} {UMLS C0431498}',
    'respiratoryAirways':
    'Pneumonia {SNOMEDCT:233604007} {UMLS C0032285 HP:0002090} {HPO HP:0002090 C0032285}'
    , 'abdomenExternalFeatures':
    'Umbilical hernia {SNOMEDCT:396347007,5867007} {ICD10CM:Q79.2,K42,K42.9} {ICD9CM:553.1} {UMLS C1306503,C0041636,C0019322 HP:0001537} {HPO HP:0001537 C0019322}'
    , 'abdomenGastrointestinal':
    'Esophageal dyskinesia {SNOMEDCT:79962008,266434009} {ICD10CM:K22.4} {ICD9CM:530.5} {UMLS C0014858}'
    , 'genitourinaryKidneys':
    'Cross-fused renal ectopia {UMLS C1835796 HP:0004736}', 'skeletal':
    """Osteopenia {SNOMEDCT:312894000,78441005} {UMLS C0029453 HP:0000938} {HPO HP:0000938 C0029453,C0747078};
Cone-shaped epiphyses {UMLS C1865037 HP:0010579} {HPO HP:0010579 C1865037}"""
    , 'skeletalHands':
    'Short metacarpals {UMLS C1837084 HP:0010049} {HPO HP:0010049 C1837084}',
    'skeletalFeet':
    'Short metatarsals {UMLS C1849020 HP:0010743} {HPO HP:0010743 C1849020}',
    'neurologicCentralNervousSystem':
    """Myoclonic seizures {SNOMEDCT:37356005} {UMLS C4317123,C0014550 HP:0002123} {HPO HP:0002123 C0014550,C0751778,C4021759};
Developmental delay {SNOMEDCT:248290002,224958001} {ICD10CM:F88} {ICD9CM:315.9} {UMLS C0424605,C0557874 HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};
Dilated ventricles {SNOMEDCT:6210001} {ICD10CM:I51.7} {UMLS C0264733,C3278923 HP:0002119} {HPO HP:0002119 C3278923}"""
    , 'immunology':
    """Repeated invasive infections {UMLS C3150518};
Arthritis {SNOMEDCT:3723001} {ICD10CM:M19.90} {UMLS C4552845,C0003864 HP:0001369} {HPO HP:0001369 C0003864};
Normal or elevated lymphocytes {UMLS C3150519};
Low T-cell function {UMLS C3150520};
Low IgG with antibody deficiency {UMLS C3150521}"""
    , 'miscellaneous':
    'One family with 2 sisters have been reported (as of March 2010) {UMLS C3150522}'
    , 'inheritanceExists': True, 'growthExists': False,
    'growthHeightExists': False, 'growthWeightExists': False,
    'growthOtherExists': False, 'headAndNeckExists': True,
    'headAndNeckHeadExists': False, 'headAndNeckFaceExists': True,
    'headAndNeckEarsExists': False, 'headAndNeckEyesExists': True,
    'headAndNeckNoseExists': True, 'headAndNeckMouthExists': True,
    'headAndNeckTeethExists': False, 'headAndNeckNeckExists': True,
    'cardiovascularExists': True, 'cardiovascularHeartExists': False,
    'cardiovascularVascularExists': True, 'respiratoryExists': True,
    'respiratoryNasopharynxExists': False, 'respiratoryLarynxExists': False,
    'respiratoryAirwaysExists': True, 'respiratoryLungExists': False,
    'chestExists': False, 'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': True, 'abdomenExternalFeaturesExists': True,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': True, 'genitourinaryExists': True,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': True, 'genitourinaryUretersExists': False,
    'genitourinaryBladderExists': False, 'skeletalExists': True,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': True, 'skeletalFeetExists': True,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': True,
    'neurologicCentralNervousSystemExists': True,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': True, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': False, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613387, 'prefix': '%', 'preferredTitle':
    'FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2; NAFLD2',
    'inheritance': 'Multifactorial {UMLS C1837655}', 'abdomenLiver':
    'Fatty liver (hepatic steatosis), nonalcoholic {UMLS C3278766}',
    'miscellaneous':
    'Genetic heterogeneity {UMLS C0242960 HP:0001425} {HPO HP:0001425 C0242960}'
    , 'inheritanceExists': True, 'growthExists': False,
    'growthHeightExists': False, 'growthWeightExists': False,
    'growthOtherExists': False, 'headAndNeckExists': False,
    'headAndNeckHeadExists': False, 'headAndNeckFaceExists': False,
    'headAndNeckEarsExists': False, 'headAndNeckEyesExists': False,
    'headAndNeckNoseExists': False, 'headAndNeckMouthExists': False,
    'headAndNeckTeethExists': False, 'headAndNeckNeckExists': False,
    'cardiovascularExists': False, 'cardiovascularHeartExists': False,
    'cardiovascularVascularExists': False, 'respiratoryExists': False,
    'respiratoryNasopharynxExists': False, 'respiratoryLarynxExists': False,
    'respiratoryAirwaysExists': False, 'respiratoryLungExists': False,
    'chestExists': False, 'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': True, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': True, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': False,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': False, 'matches': ''}}, {'clinicalSynopsis': {
    'mimNumber': 613329, 'prefix': '#', 'preferredTitle':
    'PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY', 'inheritance':
    """Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899};
Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}"""
    , 'hematology':
    """Increased bleeding after trauma, surgery, or injury {UMLS C3278771};
Hematomas after trauma or injury {UMLS C3278772};
Bleeding defect due to decreased plasminogen activator inhibitor-1 {UMLS C3278773};
Decreased euglobin lysis time {UMLS C3278774};
Increased fibrinolysis {SNOMEDCT:89470004} {UMLS C0151648,C2314905};
Menorrhagia {SNOMEDCT:386692008} {ICD10CM:N92.0} {UMLS C0025323,C4553737 HP:0000132} {HPO HP:0000132 C0025323}"""
    , 'miscellaneous':
    """Congenital onset {UMLS C1836142 HP:0003577} {HPO HP:0003577 C1836142,C2752013};
Spontaneous bleeding is rare {UMLS C3278776};
Favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) {UMLS C3278777}"""
    , 'molecularBasis':
    'Caused by mutation in the serpin peptidase inhibitor, clade E, member 1 gene (SERPINE1, {173360.0001})'
    , 'inheritanceExists': True, 'growthExists': False,
    'growthHeightExists': False, 'growthWeightExists': False,
    'growthOtherExists': False, 'headAndNeckExists': False,
    'headAndNeckHeadExists': False, 'headAndNeckFaceExists': False,
    'headAndNeckEarsExists': False, 'headAndNeckEyesExists': False,
    'headAndNeckNoseExists': False, 'headAndNeckMouthExists': False,
    'headAndNeckTeethExists': False, 'headAndNeckNeckExists': False,
    'cardiovascularExists': False, 'cardiovascularHeartExists': False,
    'cardiovascularVascularExists': False, 'respiratoryExists': False,
    'respiratoryNasopharynxExists': False, 'respiratoryLarynxExists': False,
    'respiratoryAirwaysExists': False, 'respiratoryLungExists': False,
    'chestExists': False, 'chestExternalFeaturesExists': False,
    'chestRibsSternumClaviclesAndScapulaeExists': False,
    'chestBreastsExists': False, 'chestDiaphragmExists': False,
    'abdomenExists': False, 'abdomenExternalFeaturesExists': False,
    'abdomenLiverExists': False, 'abdomenPancreasExists': False,
    'abdomenBiliaryTractExists': False, 'abdomenSpleenExists': False,
    'abdomenGastrointestinalExists': False, 'genitourinaryExists': False,
    'genitourinaryExternalGenitaliaMaleExists': False,
    'genitourinaryExternalGenitaliaFemaleExists': False,
    'genitourinaryInternalGenitaliaMaleExists': False,
    'genitourinaryInternalGenitaliaFemaleExists': False,
    'genitourinaryKidneysExists': False, 'genitourinaryUretersExists': 
    False, 'genitourinaryBladderExists': False, 'skeletalExists': False,
    'skeletalSkullExists': False, 'skeletalSpineExists': False,
    'skeletalPelvisExists': False, 'skeletalLimbsExists': False,
    'skeletalHandsExists': False, 'skeletalFeetExists': False,
    'skinNailsHairExists': False, 'skinNailsHairSkinExists': False,
    'skinNailsHairSkinHistologyExists': False,
    'skinNailsHairSkinElectronMicroscopyExists': False,
    'skinNailsHairNailsExists': False, 'skinNailsHairHairExists': False,
    'muscleSoftTissueExists': False, 'neurologicExists': False,
    'neurologicCentralNervousSystemExists': False,
    'neurologicPeripheralNervousSystemExists': False,
    'neurologicBehavioralPsychiatricManifestationsExists': False,
    'voiceExists': False, 'metabolicFeaturesExists': False,
    'endocrineFeaturesExists': False, 'hematologyExists': True,
    'immunologyExists': False, 'neoplasiaExists': False,
    'prenatalManifestationsExists': False,
    'prenatalManifestationsMovementExists': False,
    'prenatalManifestationsAmnioticFluidExists': False,
    'prenatalManifestationsPlacentaAndUmbilicalCordExists': False,
    'prenatalManifestationsMaternalExists': False,
    'prenatalManifestationsDeliveryExists': False,
    'laboratoryAbnormalitiesExists': False, 'miscellaneousExists': True,
    'molecularBasisExists': True, 'matches': ''}}]}}}

omim = {'omim': { 
'version': '1.0',
'searchResponse': { 
'search': '*', 
'expandedSearch': '*:*', 
'parsedSearch': '+*:* ()', 
'searchSuggestion': None, 
'searchSpelling': None, 
'filter': '', 
'expandedFilter': None, 
'fields': '', 
'searchReport': None, 
'totalResults': 7368, 
'startIndex': 6200, 
'endIndex': 6219, 
'sort': '', 
'operator': '', 
'searchTime': 3.0, 
'clinicalSynopsisList': [ 
{'clinicalSynopsis': { 
'mimNumber': 613364, 
'prefix': '%', 
'preferredTitle': 'SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'genitourinaryBladder': 'Urinary urgency {SNOMEDCT:75088002} {ICD10CM:R39.15} {ICD9CM:788.63} {UMLS C4553976,C0085606 HP:0000012} {HPO HP:0000012 C0085606,C3544092,C4020898}', 
'muscleSoftTissue': 'Mild weakness of the small hand muscles {UMLS C3278778}', 
'neurologicCentralNervousSystem': '''Spastic paraplegia {SNOMEDCT:192967009} {UMLS C0037772 HP:0001258} {HPO HP:0001258 C0037772};\nSpastic gait {SNOMEDCT:9447003} {ICD10CM:R26.1} {UMLS C0231687 HP:0002064} {HPO HP:0002064 C0231687};\nLower limb muscle weakness, proximal {UMLS C1866010 HP:0008994};\nHyperreflexia {SNOMEDCT:86854008} {UMLS C0151889 HP:0001347} {HPO HP:0001347 C0151889}''', 
'miscellaneous': '''Average age at onset 16.6 years {UMLS C3278779};\nOne 4-generation Chinese family has been reported (as of 04/2010) {UMLS C3278780}''', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': True, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': True, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': False, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613307, 
'prefix': '#', 
'preferredTitle': 'DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'headAndNeckEars': 'Hearing loss, sensorineural, progressive (severe to profound) {UMLS C4229862} {HPO HP:0000408 C1843156}', 
'miscellaneous': '''Dutch, Pakistani, and Moroccan families have been described {UMLS C4229860};\nOnset of hearing loss in first decade of life {UMLS C4229859}''', 
'molecularBasis': 'Caused by mutation in the taperin gene (TPRN, {613354.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': True, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613308, 
'prefix': '#', 
'preferredTitle': 'DIAMOND-BLACKFAN ANEMIA 9; DBA9', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'growthOther': 'Growth retardation {SNOMEDCT:59576002,444896005} {UMLS C0151686 HP:0001510} {HPO HP:0001510 C0151686,C0456070,C0878787,C1837385,C3552463}', 
'headAndNeckFace': 'Cathie facies {UMLS C4314925}', 
'headAndNeckNeck': 'Webbed neck (rare) {UMLS C3554266} {HPO HP:0000465 C0221217}', 
'hematology': 'Anemia {SNOMEDCT:271737000} {ICD10CM:D64.9} {ICD9CM:285.9} {UMLS C0002871,C4554633,C1000483 HP:0001903} {HPO HP:0001903 C0002871,C0162119}', 
'laboratoryAbnormalities': 'Vitamin D deficiency {SNOMEDCT:34713006} {ICD10CM:E55,E55.9} {ICD9CM:268,268.9} {UMLS C0042870 HP:0100512} {HPO HP:0100512 C0042870}', 
'miscellaneous': '''Some patients are steroid responsive {UMLS C4314939};\nAge at diagnosis ranged from birth to 12 years {UMLS C4314844};\nLimited clinical information provided {UMLS C4230773}''', 
'molecularBasis': 'Caused by mutation in ribosomal protein S10 (RPS10, {603632.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': True, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': True, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': True, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613309, 
'prefix': '#', 
'preferredTitle': 'DIAMOND-BLACKFAN ANEMIA 10; DBA10', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'growthHeight': 'Short stature (in some patients) {UMLS C2751301} {HPO HP:0004322 C0349588}', 
'growthOther': 'Poor growth (in some patients) {UMLS C3280954} {HPO HP:0001510 C0151686,C0456070,C0878787,C1837385,C3552463}', 
'headAndNeckFace': '''Mandibulofacial dysostosis (in some patients) {UMLS C4229856} {HPO HP:0005321 C0242387};\nMicrognathia (in some patients) {UMLS C3277936} {HPO HP:0000347 C0025990,C0240295,C1857130} {EOM ID:8bbf61b4ad7ca2ef IMG:Micrognathia-small.jpg};\nMalar hypoplasia (in some patients) {UMLS C4229855} {HPO HP:0000272 C1858085,C4280651} {EOM ID:81db216382f501fc IMG:Malar_Flattening-small.jpg}''', 
'headAndNeckEars': '''Microtia (in some patients) {UMLS C4229854} {HPO HP:0008551 C0152423};\nExternal auditory canal atresia (in some patients) {UMLS C4229853} {HPO HP:0000413 C1398325,C1840305,C1857079,C1866190};\nLow-set ears (in some patients) {UMLS C3553628} {HPO HP:0000369 C0239234};\nPosteriorly rotated ears (in some patients) {UMLS C3550632} {HPO HP:0000358 C0431478};\nConductive hearing loss (in some patients) {UMLS C3276776} {HPO HP:0000405 C0018777}''', 
'headAndNeckNose': 'Choanal atresia (in some patients) {UMLS C3552333} {HPO HP:0000453 C0008297}', 
'headAndNeckMouth': 'Cleft palate (in some patients) {UMLS C3275332} {HPO HP:0000175 C0008925,C2981150}', 
'headAndNeckNeck': 'Wide neck (in some patients) {UMLS C4229852} {HPO HP:0000475 C1853638} {EOM ID:1f45b748bb5aa8fe IMG:Neck,Broad-small.jpg}', 
'cardiovascularHeart': 'Ventricular septal defect (in some patients) {UMLS C1843489} {HPO HP:0001629 C0018818}', 
'cardiovascularVascular': 'Patent ductus arteriosus (in some patients) {UMLS C3280787} {HPO HP:0001643 C0013274}', 
'respiratory': 'Respiratory difficulties (in some patients) {UMLS C4227383} {HPO HP:0002098 C0013404,C0476273}', 
'chestDiaphragm': 'Diaphragmatic hernia (in some patients) {UMLS C3278412} {HPO HP:0000776 C0235833}', 
'genitourinaryKidneys': '''Duplicated kidney (in some patients) {UMLS C4229858};\nRenal ectopia (in some patients) {UMLS C4229857} {HPO HP:0000086 C0238207}''', 
'hematology': '''Macrocytic anemia {SNOMEDCT:83414005} {UMLS C1420653,C0002886 HP:0001972} {HPO HP:0001972 C0002886};\nIncreased fetal hemoglobin {UMLS C0239941 HP:0011904};\nIncreased erythrocyte adenosine deaminase activity {UMLS C4230444};\nReticulocytopenia {SNOMEDCT:124961001} {UMLS C0858867 HP:0001896} {HPO HP:0001896 C0858867};\nBone marrow shows decreased erythroid progenitors {UMLS C4229851}''', 
'miscellaneous': '''Onset in infancy {UMLS C1848924 HP:0003593} {HPO HP:0003593 C1848924};\nVariable expressivity, even within families {UMLS C4229849}''', 
'molecularBasis': 'Caused by mutation in the ribosomal protein S26 gene (RPS26, {603701.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': False, 
'growthOtherExists': True, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': True, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': True, 
'headAndNeckMouthExists': True, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': True, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': True, 
'respiratoryExists': True, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': True, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': True, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': True, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': True, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613310, 
'prefix': '#', 
'preferredTitle': 'EXUDATIVE VITREORETINOPATHY 5; EVR5', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'headAndNeckEyes': '''Avascularity of peripheral retina {UMLS C3808307};\nRetinal exudates {SNOMEDCT:39832008} {UMLS C0240897 HP:0001147} {HPO HP:0001147 C0240897};\nDecreased visual acuity (in some patients) {UMLS C3554187} {HPO HP:0007663 C0234632};\nTractional retinal detachment (in some patients) {UMLS C3808308} {HPO HP:0007917 C1866178};\nShallow anterior chamber (in some patients) {UMLS C3808309} {HPO HP:0000594 C0423276};\nNasally displaced pupils (in some patients) {UMLS C3808310};\nAbnormal vascularization of the iris on indocyanine green angiography (in some patients) {UMLS C3808311}''', 
'miscellaneous': '''Visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment {UMLS C3808313};\nSeverely affected individuals may carry 2 mutated alleles {UMLS C3808314}''', 
'molecularBasis': 'Caused by mutation in the tetraspanin-12 gene (TSPAN12, {613138.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': True, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613370, 
'prefix': '#', 
'preferredTitle': 'MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'endocrineFeatures': 'Diabetes mellitus {SNOMEDCT:73211009} {ICD10CM:E08-E13} {ICD9CM:250} {UMLS C0011849 HP:0000819} {HPO HP:0000819 C0011849}', 
'miscellaneous': '''Diagnosed in second or third decade of life {UMLS C3278782};\nOccasionally low-dose insulin required {UMLS C3278783}''', 
'molecularBasis': 'Caused by mutation in the insulin gene (INS, {176730.0014})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': True, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613312, 
'prefix': '#', 
'preferredTitle': 'HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'growthHeight': 'Short stature {SNOMEDCT:422065006,237837007,237836003} {ICD10CM:R62.52,E34.3} {ICD9CM:783.43} {UMLS C0013336,C0349588,C2237041,C2919142 HP:0004322,HP:0003510} {HPO HP:0004322 C0349588}', 
'headAndNeckTeeth': '''Hypoplastic teeth (in 1 patient) {UMLS C4747623} {HPO HP:0000685 C0235357,C4280611};\nDental caries (rare) {UMLS C4747624} {HPO HP:0000670 C0011334,C4280623}''', 
'cardiovascularHeart': 'Thickening of aortic valves (in 1 patient) {UMLS C4747633}', 
'cardiovascularVascular': '''Aortic root dissection (in 1 patient) {UMLS C4747634};\nPulmonary stenosis, mild (in 1 patient) {UMLS C4747635} {HPO HP:0001642 C1956257}''', 
'genitourinaryKidneys': 'Medullary nephrocalcinosis (in 1 patient) {UMLS C4747622} {HPO HP:0012408 C0403477}', 
'skeletal': 'Delayed bone age {SNOMEDCT:123983008} {UMLS C0541764 HP:0002750} {HPO HP:0002750 C0541764}', 
'skeletalPelvis': 'Coxa valga (in 1 patient) {UMLS C4313573} {HPO HP:0002673 C0239137,C3549698}', 
'skeletalLimbs': '''Slight widening of the wrist {UMLS C4747625};\nWidening of growth pate of radius {UMLS C4747626};\nWidening of growth plate of ulna {UMLS C4747627};\nCupping of growth plate of radius {UMLS C4747628};\nCupping of growth plate of ulna {UMLS C4747629};\nBowing of femur {UMLS C1859461 HP:0002980};\nGenu valgum {SNOMEDCT:52012001,299330008} {ICD10CM:M21.06} {ICD9CM:736.41} {UMLS C0576093,C0158484 HP:0002857} {HPO HP:0002857 C0576093};\nGenu varum {SNOMEDCT:64925008,299331007} {ICD10CM:M21.16} {ICD9CM:736.42} {UMLS C0158485,C0544755 HP:0002970,HP:0002979} {HPO HP:0002970 C0544755};\nBowing of tibia {UMLS C1837081 HP:0002982}''', 
'laboratoryAbnormalities': '''Hypophosphatemia {SNOMEDCT:4996001} {UMLS C0595888,C0085682,C4554637 HP:0002148} {HPO HP:0002148 C0085682};\nHyperphosphaturia {SNOMEDCT:85487008,22450000} {UMLS C0268079,C0282201,C0948023 HP:0003109} {HPO HP:0003109 C0268079,C0948023};\nElevated plasma alkaline phosphatase {UMLS C4747630};\nNormal calcium level {UMLS C0860970};\nNormal calcium excretion {UMLS C4747631};\nNormal PTH {UMLS C0858303};\nNormal vitamin D metabolites {UMLS C4747632}''', 
'miscellaneous': '''Normal renal function {SNOMEDCT:81141003} {UMLS C0232805};\nNo vascular or periarticular calcifications {UMLS C4747637}''', 
'molecularBasis': 'Caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (ENPP1, {173335.0010})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': True, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': True, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': True, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': True, 
'skeletalLimbsExists': True, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613371, 
'prefix': '%', 
'preferredTitle': 'SPINOCEREBELLAR ATAXIA 30; SCA30', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'headAndNeckEyes': '''Hypermetric saccades {SNOMEDCT:246769000} {UMLS C0423083 HP:0007338} {HPO HP:0007338 C0423083};\nGaze-evoked nystagmus (1 patient) {UMLS C3278786} {HPO HP:0000640 C0271390}''', 
'neurologicCentralNervousSystem': '''Ataxia, gait and appendicular {UMLS C3278784};\nDysarthria {SNOMEDCT:8011004} {ICD9CM:438.13,784.51} {UMLS C0013362,C4553903 HP:0001260} {HPO HP:0001260 C0013362};\nHyperreflexia, lower limbs, mild {UMLS C3278785};\nCerebellar atrophy {UMLS C0740279 HP:0001272} {HPO HP:0001272 C0262404,C0740279,C4020873}''', 
'miscellaneous': '''Adult onset (45 to 76 years) {UMLS C3278787} {HPO HP:0003581 C1853562};\nInsidious onset {SNOMEDCT:367326009} {UMLS C1298634 HP:0003587} {HPO HP:0003587 C0332164,C1298634};\nSlow progression {UMLS C1854494 HP:0003677} {HPO HP:0003677 C1854494};\nOne family has been reported (as of 4/2010) {UMLS C3278788}''', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': True, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': False, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613313, 
'prefix': '#', 
'preferredTitle': 'HEMOCHROMATOSIS, TYPE 2B; HFE2B', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'cardiovascularHeart': '''Heart failure {SNOMEDCT:84114007,42343007} {ICD10CM:I50,I50.9} {ICD9CM:428,428.9,428.0} {UMLS C0018801,C0018802,C4554158 HP:0001635} {HPO HP:0001635 C0018801,C0018802};\nCardiomyopathy {SNOMEDCT:57809008,85898001} {ICD10CM:I42,I51.5,I42.9} {ICD9CM:425} {UMLS C0878544 HP:0001638} {HPO HP:0001638 C0878544}''', 
'abdomenLiver': '''Fibrosis {SNOMEDCT:263756000,112674009} {UMLS C0016059,C4285457};\nCirrhosis {SNOMEDCT:19943007} {ICD10CM:K74.60} {UMLS C1623038,C0023890 HP:0001394} {HPO HP:0001394 C0023890};\nHepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209}''', 
'abdomenSpleen': 'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}', 
'genitourinaryExternalGenitaliaMale': 'Hypogonadism {SNOMEDCT:48130008} {UMLS C0020619 HP:0000135} {HPO HP:0000135 C0020619}', 
'genitourinaryExternalGenitaliaFemale': 'Hypogonadism {SNOMEDCT:48130008} {UMLS C0020619 HP:0000135} {HPO HP:0000135 C0020619}', 
'skinNailsHairSkin': 'Hyperpigmentation {SNOMEDCT:4830009,49765009} {UMLS C1962962,C0162834 HP:0000953}', 
'hematology': 'Anemia {SNOMEDCT:271737000} {ICD10CM:D64.9} {ICD9CM:285.9} {UMLS C0002871,C4554633,C1000483 HP:0001903} {HPO HP:0001903 C0002871,C0162119}', 
'laboratoryAbnormalities': '''Increased serum iron {SNOMEDCT:165624002} {UMLS C0151900 HP:0003452} {HPO HP:0003452 C0151900};\nIncreased serum ferritin {UMLS C0241013 HP:0003281} {HPO HP:0003281 C0241013,C0743912,C3854388};\nIncreased transaminases {UMLS C0438717 HP:0002910} {HPO HP:0002910 C0086565,C0151766,C0235996,C0438237,C0438717,C0877359,C1842003,C1848701};\nIncreased or complete (100%) transferrin saturation {UMLS C4478919}''', 
'miscellaneous': 'Onset is usually before 30 years of age {UMLS C4478921}', 
'molecularBasis': 'Caused by mutation in the hepcidin antimicrobial peptide gene (HAMP, {606464.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': True, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': True, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': True, 
'genitourinaryExternalGenitaliaFemaleExists': True, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': True, 
'skinNailsHairSkinExists': True, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': True, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613375, 
'prefix': '#', 
'preferredTitle': 'MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'growthWeight': '''Overweight {SNOMEDCT:238131007} {ICD10CM:E66.3} {ICD9CM:278.02} {UMLS C0497406 HP:0025502} {HPO HP:0025502};\nObesity {SNOMEDCT:414915002,414916001} {ICD10CM:E66.9} {ICD9CM:278.00} {UMLS C1963185,C0028754 HP:0001513} {HPO HP:0001513 C0028754}''', 
'endocrineFeatures': 'Diabetes mellitus {SNOMEDCT:73211009} {ICD10CM:E08-E13} {ICD9CM:250} {UMLS C0011849 HP:0000819} {HPO HP:0000819 C0011849}', 
'miscellaneous': 'Some patients require insulin for treatment {UMLS C3278790}', 
'molecularBasis': 'Caused by mutation in the BLK nonreceptor tyrosine kinase gene (BLK, {191305.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': False, 
'growthWeightExists': True, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': True, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613319, 
'prefix': '#', 
'preferredTitle': 'MIYOSHI MUSCULAR DYSTROPHY 3; MMD3', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'muscleSoftTissue': '''Distal muscle weakness {SNOMEDCT:249942005} {UMLS C0427065 HP:0002460} {HPO HP:0002460 C0427065,C1864696};\nInability to stand on tiptoes {UMLS C3150479};\nCalf muscle discomfort {UMLS C3150480};\nCalf muscle weakness {SNOMEDCT:309249007} {UMLS C0586738};\nCalf hypertrophy (early in the disease) {UMLS C3150481} {HPO HP:0008981 C1843057};\nCalf atrophy (later onset) {UMLS C3150482};\nHypertrophy of the extensor digitorum brevis muscles {UMLS C3150483};\nMRI shows fatty infiltration of affected muscles {UMLS C1864710};\nDifficulty running {SNOMEDCT:282479002} {UMLS C0560346 HP:0009046} {HPO HP:0009046 C0560346};\nDifficulty climbing stairs {SNOMEDCT:282195009} {UMLS C0239067 HP:0003551} {HPO HP:0003551 C0239067};\nDifficulty rising from chair {UMLS C3150484};\nProximal lower limb muscle weakness, upper and lower (later onset) {UMLS C3150485};\nQuadriceps atrophy (later onset) {UMLS C3150486};\nMuscle weakness and atrophy may be asymmetric {UMLS C3150487};\nDisruption of the sarcolemmal membrane seen on muscle biopsy {UMLS C3552741}''', 
'laboratoryAbnormalities': 'Increased serum creatine kinase {UMLS C0241005 HP:0003236} {HPO HP:0003236 C0151576,C0241005}', 
'miscellaneous': '''Onset age 20 to 51 years {UMLS C3150489};\nIndependent ambulation is maintained {UMLS C3150490};\nVariable severity {UMLS C1861403 HP:0003828} {HPO HP:0003828 C1861403,C1866862};\nFemale mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase {UMLS C3552743};\nLimb-girdle muscular dystrophy type 2L (LGMD2L, {611307}) is an allelic disorder''', 
'molecularBasis': 'Caused by mutation in the anoctamin 5 gene (ANO5, {608662.0004})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': True, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613376, 
'prefix': '#', 
'preferredTitle': 'NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'muscleSoftTissue': '''Distal lower and upper limb muscle atrophy {UMLS C1848736 HP:0003693};\nAtrophy of the intrinsic foot and hand muscles {UMLS C3150622}''', 
'neurologicPeripheralNervousSystem': '''Muscle weakness, distal {SNOMEDCT:249942005} {UMLS C0427065 HP:0002460} {HPO HP:0002460 C0427065,C1864696};\nDistal lower limb muscle weakness {UMLS C1836450 HP:0009053} {HPO HP:0009053 C1836450};\nDistal upper limb muscle weakness {UMLS C3150620 HP:0008959} {HPO HP:0008959 C3150620};\nSteppage gait {SNOMEDCT:27253007} {UMLS C0427149 HP:0003376} {HPO HP:0003376 C0427149};\nDifficulty walking {SNOMEDCT:719232003,228158008} {ICD9CM:719.7} {UMLS C0311394 HP:0002355} {HPO HP:0002355 C0311394};\nEMG shows neurogenic abnormalities {UMLS C1846832};\nNeurophysiologic studies show a predominantly motor neuropathy {UMLS C2750686};\nHyporeflexia of lower limbs {UMLS C1834696 HP:0002600} {HPO HP:0002600 C1834696};\nAreflexia of lower limbs {UMLS C1856694 HP:0002522} {HPO HP:0002522 C1856694};\nNo or mild distal sensory deficit {UMLS C3150621}''', 
'miscellaneous': '''Onset in early twenties {UMLS C3150624};\nSlowly progressive {UMLS C1854494 HP:0003677} {HPO HP:0003677 C1854494};\nLower limb involvement occurs before upper limb involvement {UMLS C3150625};\nOne family has been reported {UMLS C2750513}''', 
'molecularBasis': 'Caused by mutation in the heat-shock 27-kD protein 3 gene (HSPB3, {604624.0001}).', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': True, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': True, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613320, 
'prefix': '#', 
'preferredTitle': 'SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'growthHeight': 'Short stature, pre- and postnatal {UMLS C3150493}', 
'growthWeight': 'Low birth weight {SNOMEDCT:267258002,276610007} {UMLS C0024032 HP:0001518} {HPO HP:0001518 C0024032,C0235991}', 
'headAndNeckHead': '''Large fontanelles {SNOMEDCT:276709006} {UMLS C0456132 HP:0000239} {HPO HP:0000239 C0456132,C4072820,C4072821,C4072822};\nProminent forehead {UMLS C1837260 HP:0011220} {HPO HP:0011220 C1837260,C1867446} {EOM ID:510a51e4083c1d6f IMG:Forehead,Prominent-small.jpg}''', 
'headAndNeckFace': 'Round face {UMLS C0239479 HP:0000311} {HPO HP:0000311 C0239479,C1856468} {EOM ID:a98d48239172dc71 IMG:Face,Round-small.jpg}', 
'headAndNeckEars': '''Small ears {SNOMEDCT:35045004} {ICD10CM:Q17.2} {ICD9CM:744.23} {UMLS C0152423 HP:0008551} {HPO HP:0008551 C0152423};\nLow-set ears {SNOMEDCT:95515009} {ICD10CM:Q17.4} {UMLS C0239234 HP:0000369} {HPO HP:0000369 C0239234}''', 
'headAndNeckNose': '''Depressed nasal bridge {UMLS C1836542 HP:0005280} {HPO HP:0005280 C1836542,C3550546,C4280495} {EOM ID:000fb29123c16757 IMG:Nasal_Bridge,Depressed-small.jpg};\nShort nose {UMLS C1854114 HP:0003196} {HPO HP:0003196 C0426414,C1854114} {EOM ID:daeb9fb85b0b970f IMG:Nose,Short-small.jpg};\nWide nostrils {SNOMEDCT:399353008} {UMLS C0426440 HP:0009931};\nAnteverted nares {SNOMEDCT:708670007} {UMLS C1840077 HP:0000463} {HPO HP:0000463 C1840077} {EOM ID:d7284223e790d7aa IMG:Nares,Anteverted-small.jpg};\nIncreased nasal width {SNOMEDCT:249321001} {UMLS C0426421 HP:0000445} {HPO HP:0000445 C0426421}''', 
'headAndNeckMouth': 'Deep philtrum {UMLS C1839797 HP:0002002} {HPO HP:0002002 C1839797,C4020861} {EOM ID:3c771454d4293f5e IMG:Philtrum,Deep-small.jpg}', 
'headAndNeckNeck': 'Short neck {SNOMEDCT:95427009} {UMLS C0521525 HP:0000470} {HPO HP:0000470 C0521525} {EOM ID:c75e63fd749ec7a8 IMG:Neck,Short-small.jpg}', 
'cardiovascularHeart': '''Cardiomegaly {SNOMEDCT:8186001} {ICD10CM:I51.7} {ICD9CM:429.3} {UMLS C0018800 HP:0001640} {HPO HP:0001640 C0018800};\nGlobal left ventricular hypokinesia {UMLS C4229844};\nRight atrium dilatation {UMLS C4229843};\nPulmonary hypertension {SNOMEDCT:70995007} {ICD10CM:I27.20} {UMLS C0020542,C1963220}''', 
'respiratory': 'Tachypnea {SNOMEDCT:271823003} {ICD10CM:R06.82} {ICD9CM:786.06} {UMLS C0231835 HP:0002789} {HPO HP:0002789 C0231835}', 
'chestExternalFeatures': '''Narrow chest {SNOMEDCT:249671009} {UMLS C0426790 HP:0000774} {HPO HP:0000774 C0426790};\nBell-shaped thorax {UMLS C1865186 HP:0001591} {HPO HP:0001591 C1865186}''', 
'chestRibsSternumClaviclesAndScapulae': '''Short ribs {SNOMEDCT:249696007} {UMLS C0426817 HP:0000773} {HPO HP:0000773 C0426817};\nCupped end ribs {UMLS C3150492}''', 
'abdomenExternalFeatures': 'Prominent abdomen {UMLS C1850290}', 
'skeletal': 'Delayed bone age {SNOMEDCT:123983008} {UMLS C0541764 HP:0002750} {HPO HP:0002750 C0541764}', 
'skeletalSkull': 'Wormian bones {SNOMEDCT:113194005} {UMLS C0222716 HP:0002645} {HPO HP:0002645 C0222716}', 
'skeletalSpine': '''Severe platyspondyly {UMLS C1850293 HP:0004565} {HPO HP:0004565 C1850293};\nSlightly ovoid vertebrae {UMLS C4229848};\nPartial sacral agenesis {SNOMEDCT:253189008} {UMLS C0431414 HP:0008455} {HPO HP:0008455 C1851305};\nDecrease in interpedicular distance in the lumbar vertebrae {UMLS C4229846}''', 
'skeletalPelvis': '''Square iliac bones {UMLS C1838186 HP:0003177} {HPO HP:0003177 C1838186};\nHorizontal acetabula with medial and lateral spurs {UMLS C3150495};\nHypoplastic ischia {UMLS C1859447 HP:0003175} {HPO HP:0003175 C1859447};\nLacy appearance of iliac crest {UMLS C1857186 HP:0008786} {HPO HP:0008786 C1857186};\nTrident acetabula {UMLS C3810182}''', 
'skeletalLimbs': '''Short limbs {UMLS C0239399 HP:0009826} {HPO HP:0009826 C0239399};\nShort long bones {UMLS C1854912 HP:0003026};\nSlight widening of the distal femoral metaphyses {UMLS C3150496};\nAbsence of epiphyseal ossification of the knees {UMLS C3150497};\nAbnormal modeling of the long bones {UMLS C4229845};\nBowed femora {UMLS C1859461 HP:0002980};\nMetaphyseal cupping {UMLS C1837082 HP:0003021} {HPO HP:0003021 C1837082}''', 
'neurologicCentralNervousSystem': '''Developmental delay {SNOMEDCT:248290002,224958001} {ICD10CM:F88} {ICD9CM:315.9} {UMLS C0424605,C0557874 HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};\nAxial hypotonia {UMLS C1853743 HP:0008936} {HPO HP:0008936 C1853743}''', 
'miscellaneous': '''Bone abnormalities improve with age {UMLS C3150498};\nReduced longevity {UMLS C4229841};\nTwo consanguineous Lebanese families have been reported (last curated March 2015) {UMLS C4229840}''', 
'molecularBasis': 'Caused by mutation in the homolog of the S. cerevisiae presequence translocase-associated motor 16 gene (PAM16, {614336.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': True, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': True, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': True, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': True, 
'headAndNeckMouthExists': True, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': True, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': False, 
'respiratoryExists': True, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': True, 
'chestExternalFeaturesExists': True, 
'chestRibsSternumClaviclesAndScapulaeExists': True, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': True, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': True, 
'skeletalSpineExists': True, 
'skeletalPelvisExists': True, 
'skeletalLimbsExists': True, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613382, 
'prefix': '#', 
'preferredTitle': 'BRACHYDACTYLY, TYPE E2; BDE2', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'growthHeight': 'Short stature {SNOMEDCT:422065006,237837007,237836003} {ICD10CM:R62.52,E34.3} {ICD9CM:783.43} {UMLS C0013336,C0349588,C2237041,C2919142 HP:0004322,HP:0003510} {HPO HP:0004322 C0349588}', 
'headAndNeckTeeth': '''Delayed eruption, primary and secondary (in some patients) {UMLS C3150645};\nOligodontia (in some patients) {UMLS C3150646} {HPO HP:0000677 C4082304,C4280619}''', 
'skeletalHands': 'Short metacarpals, III-V {UMLS C3150647}', 
'skeletalFeet': 'Short metatarsals {UMLS C1849020 HP:0010743} {HPO HP:0010743 C1849020}', 
'molecularBasis': 'Caused by mutation in the parathyroid hormone-like hormone gene (PTHLH, {168470.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': True, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': True, 
'skeletalFeetExists': True, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': False, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613325, 
'prefix': '#', 
'preferredTitle': 'RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2', 
'inheritance': 'Autosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}', 
'neoplasia': '''Rhabdoid tumors, malignant {SNOMEDCT:83118000} {UMLS C0206743};\nSmall cell carcinoma of the ovary, hypercalcemic type {UMLS C4013716}''', 
'miscellaneous': 'Increased risk of developing early-onset aggressive cancers {UMLS C4013718}', 
'molecularBasis': 'Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 gene (SMARCA4, {603254.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': True, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613327, 
'prefix': '#', 
'preferredTitle': 'LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'growthOther': 'Failure to thrive {SNOMEDCT:54840006,433476000,432788009} {ICD10CM:R62.51} {ICD9CM:783.41} {UMLS C2315100,C0015544,C3887638 HP:0001508} {HPO HP:0001508 C0231246,C2315100}', 
'cardiovascularHeart': '''Long QT syndrome {SNOMEDCT:111975006,9651007} {ICD10CM:I45.81} {ICD9CM:426.82} {UMLS C0023976,C0151878 HP:0001657} {HPO HP:0001657 C0151878};\nAtrial fibrillation {SNOMEDCT:164889003,49436004} {ICD9CM:427.31} {UMLS C0344434,C0004238,C2926591,C1963067 HP:0005110} {HPO HP:0005110 C0004238};\nArrhythmia {SNOMEDCT:698247007} {ICD10CM:I49.9} {ICD9CM:427,427.9} {UMLS C0003811 HP:0011675} {HPO HP:0011675 C0003811,C0264886,C0522055,C0855329,C1832603,C1842820};\nTachycardia {SNOMEDCT:86651002,3424008} {ICD10CM:R00.0} {ICD9CM:785.0} {UMLS C3827868,C0039231 HP:0001649} {HPO HP:0001649 C0039231,C4020868};\nBradycardia {SNOMEDCT:48867003} {ICD10CM:R00.1} {UMLS C0428977,C3812171 HP:0001662} {HPO HP:0001662 C0428977}''', 
'abdomenExternalFeatures': '''Protruding abdomen {UMLS C1855750};\nProminent umbilicus {UMLS C1837795 HP:0001544} {HPO HP:0001544 C1837795}''', 
'abdomenLiver': '''Hepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209};\nFatty liver {SNOMEDCT:197321007,442191002} {UMLS C0015695,C2711227 HP:0001397} {HPO HP:0001397 C2711227}''', 
'abdomenSpleen': 'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}', 
'abdomenGastrointestinal': '''Poor feeding {SNOMEDCT:78164000,299698007} {ICD10CM:R63.3} {UMLS C0576456,C0232466 HP:0011968} {HPO HP:0011968 C0232466};\nDysphagia {SNOMEDCT:40739000,288939007} {ICD10CM:R13.1,R13.10} {ICD9CM:787.2,787.20} {UMLS C0011168,C1560331 HP:0002015,HP:0200136} {HPO HP:0002015 C0011168};\nConstipation {SNOMEDCT:14760008} {ICD10CM:K59.0,K59.00} {ICD9CM:564.0,564.00} {UMLS C1963087,C0009806,C3641755,C4084722,C4084723,C4084724 HP:0002019} {HPO HP:0002019 C0009806,C0237326};\nIleus {SNOMEDCT:710572000} {UMLS C1560456,C4019039,C1258215 HP:0002595} {HPO HP:0002595 C1258215};\nEsophageal dilatation {SNOMEDCT:78974003,195565004} {ICD9CM:42.92} {UMLS C0740287,C0192389};\nEsophageal dysmotility {SNOMEDCT:79962008,266434009} {ICD10CM:K22.4} {ICD9CM:530.5} {UMLS C0014858,C0014863 HP:0025271};\nHypertrophic pyloric stenosis {SNOMEDCT:48644003} {ICD10CM:Q40.0} {ICD9CM:750.5} {UMLS C0700639};\nSmooth muscle hypertrophy in the gastrointestinal tract {UMLS C3150508}''', 
'skeletal': '''Joint contractures {SNOMEDCT:7890003} {ICD10CM:M24.5} {ICD9CM:718.40,718.4} {UMLS C0009918 HP:0001371} {HPO HP:0001371 C0009917,C0009918,C0333068,C1850530};\nOsteopenia {SNOMEDCT:312894000,78441005} {UMLS C0029453 HP:0000938} {HPO HP:0000938 C0029453,C0747078};\nOsteoporosis {SNOMEDCT:64859006} {ICD10CM:Z82.62,M81.0} {ICD9CM:733.0,V17.81,733.00} {UMLS C4554622,C2911643,C0029456,C1962963 HP:0000939} {HPO HP:0000939 C0029456}''', 
'skeletalSpine': '''Spinal rigidity {UMLS C1858025 HP:0003306} {HPO HP:0003306 C1858025};\nHyperlordosis {SNOMEDCT:249710008,61960001} {ICD10CM:M40.5} {UMLS C0024003 HP:0003307} {HPO HP:0003307 C0024003};\nScoliosis {SNOMEDCT:298382003,20944008,111266001} {ICD10CM:Q67.5,M41,M41.9} {UMLS C0559260,C0036439,C4552773,C0700208 HP:0002650} {HPO HP:0002650 C0037932,C0700208};\nAtlanto-axial instability {UMLS C3150511}''', 
'skinNailsHairHair': '''Acanthosis nigricans {SNOMEDCT:72129000,402599005} {ICD10CM:L83} {UMLS C0000889 HP:0000956} {HPO HP:0000956 C0000889};\nHirsutism (less common) {UMLS C3150512} {HPO HP:0001007 C0019572}''', 
'muscleSoftTissue': '''Muscle weakness, proximal {SNOMEDCT:249939004} {UMLS C0221629 HP:0003701} {HPO HP:0003701 C0221629,C1838869};\nMuscle weakness, generalized {ICD10CM:M62.81} {ICD9CM:728.87} {UMLS C0746674 HP:0003324} {HPO HP:0003324 C0746674};\nExercise intolerance {SNOMEDCT:267044007} {UMLS C0424551 HP:0003546} {HPO HP:0003546 C0424551};\nPercussion-induced muscle mounding (muscle rippling) {UMLS C3150502};\nMuscle hypertrophy {SNOMEDCT:249829006} {UMLS C0236033,C2265792 HP:0003712} {HPO HP:0003712 C2265792};\nProminent muscular appearance {UMLS C3150503};\nMyalgia {SNOMEDCT:68962001} {ICD10CM:M79.1} {UMLS C0231528,C4552646 HP:0003326} {HPO HP:0003326 C0231528};\nMuscle stiffness {SNOMEDCT:16046003} {UMLS C4085861,C0221170 HP:0003552} {HPO HP:0003552 C0221170};\nMuscle biopsy shows dystrophic changes {UMLS C1864711 HP:0003560} {HPO HP:0003560 C0026850,C1864711};\nDecreased sarcolemmal immunostaining for PTRF {UMLS C3150504};\nSecondary loss of sarcolemmal caveolin-3 {UMLS C3150505};\nDecreased caveolae in muscle tissue {UMLS C3150506};\nLoss of subcutaneous fat, generalized {UMLS C3150507}''', 
'endocrineFeatures': '''Hyperinsulinemia {SNOMEDCT:83469008,131103005} {ICD10CM:E16.1} {UMLS C0020459,C0852795 HP:0000842} {HPO HP:0000842 C0020459};\nInsulin resistance {SNOMEDCT:48606007,763325000} {UMLS C0021655,C4049994 HP:0000855} {HPO HP:0000855 C0021655};\nAcromegaloid features {UMLS C3150500};\nDecreased growth hormone secretion (1 patient) {UMLS C3150501}''', 
'immunology': '''Transient IgA deficiency (1 patient) {UMLS C3150509};\nRecurrent infections {SNOMEDCT:451991000124106} {UMLS C0239998 HP:0002719} {HPO HP:0002719 C0239998};\nDefective humoral immunity {UMLS C3150510 HP:0005368} {HPO HP:0005368 C3150510}''', 
'laboratoryAbnormalities': '''Increased serum creatine kinase {UMLS C0241005 HP:0003236} {HPO HP:0003236 C0151576,C0241005};\nIncreased serum triglycerides {SNOMEDCT:166848004} {UMLS C0813230 HP:0002155} {HPO HP:0002155 C1522137};\nAbnormal liver enzymes {SNOMEDCT:166643006} {UMLS C0438237 HP:0002910} {HPO HP:0002910 C0086565,C0151766,C0235996,C0438237,C0438717,C0877359,C1842003,C1848701}''', 
'miscellaneous': '''Onset in infancy or early childhood {UMLS C1837138};\nSudden death due to cardiac arrhythmia may occur {UMLS C3150514}''', 
'molecularBasis': 'Caused by mutation in the RNA polymerase I and transcript release factor gene (PTRF, {603198.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': True, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': True, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': True, 
'abdomenLiverExists': True, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': True, 
'abdomenGastrointestinalExists': True, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': True, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': True, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': True, 
'muscleSoftTissueExists': True, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': True, 
'hematologyExists': False, 
'immunologyExists': True, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': True, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613385, 
'prefix': '#', 
'preferredTitle': 'AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'growthHeight': 'Below 3rd percentile {UMLS C3278794}', 
'growthWeight': 'Below 3rd percentile {UMLS C3278794}', 
'headAndNeckHead': '''Macrocephaly, relative {SNOMEDCT:3961000119101} {UMLS C1849075 HP:0004482} {HPO HP:0004482 C1849075};\nDolichocephaly {SNOMEDCT:72239002} {ICD10CM:Q67.2} {UMLS C0221358 HP:0000268} {HPO HP:0000268 C0221358,C4280653,C4280654,C4280655,C4280656} {EOM ID:e09c1185a1ef3e38 IMG:Dolichocephaly-small.jpg};\nProminent occiput {UMLS C1853737 HP:0000269} {HPO HP:0000269 C1853737,C4280652} {EOM ID:be559f6b4bd52c20 IMG:Occiput,Prominent-small.jpg};\nFrontal bossing {SNOMEDCT:90145001} {UMLS C0221354 HP:0002007} {HPO HP:0002007 C0221354} {EOM ID:a223995bdef3e8d6 IMG:Frontal_Bossing-small.jpg}''', 
'headAndNeckFace': '''Flattened midface {UMLS C3278797};\nSmall chin {UMLS C1839323 HP:0000331} {HPO HP:0000331 C1839323,C3697248}''', 
'headAndNeckEars': '''Low-set ears {SNOMEDCT:95515009} {ICD10CM:Q17.4} {UMLS C0239234 HP:0000369} {HPO HP:0000369 C0239234};\nPosteriorly rotated ears {SNOMEDCT:253251006} {UMLS C0431478 HP:0000358} {HPO HP:0000358 C0431478}''', 
'headAndNeckEyes': 'Proptosis {SNOMEDCT:18265008} {ICD10CM:H05.20} {ICD9CM:376.30} {UMLS C0015300 HP:0000520} {HPO HP:0000520 C0015300,C1837760,C1848490,C1862425} {EOM ID:765f49f1e824f0d2 IMG:Proptosis-small.jpg}', 
'respiratoryLung': '''Pneumonitis, cellular, nonspecific interstitial {UMLS C2750127};\nSevere chronic lung disease {UMLS C3278799};\nRespiratory failure, fatal (in some patients) {UMLS C3278800}''', 
'abdomenLiver': 'Hepatomegaly {SNOMEDCT:80515008} {ICD10CM:R16.0} {ICD9CM:789.1} {UMLS C0019209 HP:0002240} {HPO HP:0002240 C0019209}', 
'abdomenSpleen': 'Splenomegaly {SNOMEDCT:16294009} {ICD10CM:R16.1} {ICD9CM:789.2} {UMLS C0038002 HP:0001744} {HPO HP:0001744 C0038002}', 
'abdomenGastrointestinal': '''Enteropathy, autoimmune (in some patients) {UMLS C3278795};\nChronic diarrhea (in some patients) {UMLS C3278796} {HPO HP:0002028 C0401151}''', 
'skeletalHands': '''Camptodactyly {SNOMEDCT:29271008} {UMLS C0221369,C0685409 HP:0012385} {HPO HP:0012385 C0685409} {EOM ID:e2dc697e402380a8 IMG:Camptodactyly-large-small.jpg};\nClinodactyly {SNOMEDCT:17268007} {UMLS C4551485,C0265610 HP:0030084,HP:0040019} {HPO HP:0030084 C0265610,C4280304} {EOM ID:483af428f909c76c IMG:Clinodactyly-small.jpg}''', 
'neurologicCentralNervousSystem': '''Psychomotor delay {SNOMEDCT:398991009,224958001} {ICD10CM:F88} {UMLS C0424230,C0557874 HP:0025356,HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};\nGlobal hypotonia {UMLS C3278793}''', 
'endocrineFeatures': '''Hypothyroidism, autoantibody-positive (in some patients) {UMLS C3278791};\nDiabetes mellitus, type 1 (rare) {UMLS C3278792}''', 
'molecularBasis': 'Caused by mutation in the homolog of the mouse itchy gene (ITCH, {606409.0001})', 
'inheritanceExists': True, 
'growthExists': True, 
'growthHeightExists': True, 
'growthWeightExists': True, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': True, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': True, 
'headAndNeckEyesExists': True, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': True, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': True, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': True, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': True, 
'abdomenGastrointestinalExists': True, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': True, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': True, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': False, 
'molecularBasisExists': True, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613328, 
'preferredTitle': 'ROIFMAN-CHITAYAT SYNDROME', 
'inheritance': 'Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899}', 
'headAndNeckFace': '''Hypoplastic supraorbital ridges {UMLS C1861869 HP:0009891} {HPO HP:0009891 C1861869,C4020777} {EOM ID:c86a7dfe73086e4e IMG:Supraorbital_Ridges,Underdeveloped-small.jpg};\nSquare chin {UMLS C3150515}''', 
'headAndNeckEyes': '''Lacrimal duct stenosis {SNOMEDCT:231841004} {UMLS C0238300 HP:0007678} {HPO HP:0007678 C0238300};\nThin optic nerves {UMLS C3151694};\nPuffy and droopy eyelids {UMLS C3150517};\nHypertelorism {SNOMEDCT:22006008} {ICD10CM:Q75.2} {ICD9CM:376.41} {UMLS C0020534 HP:0000316} {HPO HP:0000316 C0020534} {EOM ID:71d9f1be67c7f8b6 IMG:Eyes,Widely_Spaced-small.jpg}''', 
'headAndNeckNose': '''Flat nasal bridge {UMLS C1836542 HP:0005280} {HPO HP:0005280 C1836542,C3550546,C4280495} {EOM ID:000fb29123c16757 IMG:Nasal_Bridge,Depressed-small.jpg};\nBroad nasal root {SNOMEDCT:249321001} {UMLS C1849367 HP:0000431} {HPO HP:0000431 C1839764,C1849367}''', 
'headAndNeckMouth': 'Thin lower lip {UMLS C2053440 HP:0010282} {HPO HP:0010282 C2053440}', 
'headAndNeckNeck': 'Short neck {SNOMEDCT:95427009} {UMLS C0521525 HP:0000470} {HPO HP:0000470 C0521525} {EOM ID:c75e63fd749ec7a8 IMG:Neck,Short-small.jpg}', 
'cardiovascularVascular': 'Aberrant subclavian artery {SNOMEDCT:93353003} {UMLS C0431498}', 
'respiratoryAirways': 'Pneumonia {SNOMEDCT:233604007} {UMLS C0032285 HP:0002090} {HPO HP:0002090 C0032285}', 
'abdomenExternalFeatures': 'Umbilical hernia {SNOMEDCT:396347007,5867007} {ICD10CM:Q79.2,K42,K42.9} {ICD9CM:553.1} {UMLS C1306503,C0041636,C0019322 HP:0001537} {HPO HP:0001537 C0019322}', 
'abdomenGastrointestinal': 'Esophageal dyskinesia {SNOMEDCT:79962008,266434009} {ICD10CM:K22.4} {ICD9CM:530.5} {UMLS C0014858}', 
'genitourinaryKidneys': 'Cross-fused renal ectopia {UMLS C1835796 HP:0004736}', 
'skeletal': '''Osteopenia {SNOMEDCT:312894000,78441005} {UMLS C0029453 HP:0000938} {HPO HP:0000938 C0029453,C0747078};\nCone-shaped epiphyses {UMLS C1865037 HP:0010579} {HPO HP:0010579 C1865037}''', 
'skeletalHands': 'Short metacarpals {UMLS C1837084 HP:0010049} {HPO HP:0010049 C1837084}', 
'skeletalFeet': 'Short metatarsals {UMLS C1849020 HP:0010743} {HPO HP:0010743 C1849020}', 
'neurologicCentralNervousSystem': '''Myoclonic seizures {SNOMEDCT:37356005} {UMLS C4317123,C0014550 HP:0002123} {HPO HP:0002123 C0014550,C0751778,C4021759};\nDevelopmental delay {SNOMEDCT:248290002,224958001} {ICD10CM:F88} {ICD9CM:315.9} {UMLS C0424605,C0557874 HP:0001263} {HPO HP:0001263 C0557874,C1864897,C4020875};\nDilated ventricles {SNOMEDCT:6210001} {ICD10CM:I51.7} {UMLS C0264733,C3278923 HP:0002119} {HPO HP:0002119 C3278923}''', 
'immunology': '''Repeated invasive infections {UMLS C3150518};\nArthritis {SNOMEDCT:3723001} {ICD10CM:M19.90} {UMLS C4552845,C0003864 HP:0001369} {HPO HP:0001369 C0003864};\nNormal or elevated lymphocytes {UMLS C3150519};\nLow T-cell function {UMLS C3150520};\nLow IgG with antibody deficiency {UMLS C3150521}''', 
'miscellaneous': 'One family with 2 sisters have been reported (as of March 2010) {UMLS C3150522}', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': True, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': True, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': True, 
'headAndNeckNoseExists': True, 
'headAndNeckMouthExists': True, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': True, 
'cardiovascularExists': True, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': True, 
'respiratoryExists': True, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': True, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': True, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': True, 
'genitourinaryExists': True, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': True, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': True, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': True, 
'skeletalFeetExists': True, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': True, 
'neurologicCentralNervousSystemExists': True, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': True, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': False, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613387, 
'prefix': '%', 
'preferredTitle': 'FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2; NAFLD2', 
'inheritance': 'Multifactorial {UMLS C1837655}', 
'abdomenLiver': 'Fatty liver (hepatic steatosis), nonalcoholic {UMLS C3278766}', 
'miscellaneous': 'Genetic heterogeneity {UMLS C0242960 HP:0001425} {HPO HP:0001425 C0242960}', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': True, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': True, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': False, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': False, 
'matches': ''
} },
{'clinicalSynopsis': { 
'mimNumber': 613329, 
'prefix': '#', 
'preferredTitle': 'PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY', 
'inheritance': '''Autosomal recessive {SNOMEDCT:258211005} {UMLS C0441748 HP:0000007} {HPO HP:0000007 C0441748,C4020899};\nAutosomal dominant {SNOMEDCT:263681008} {UMLS C0443147 HP:0000006} {HPO HP:0000006 C0443147}''', 
'hematology': '''Increased bleeding after trauma, surgery, or injury {UMLS C3278771};\nHematomas after trauma or injury {UMLS C3278772};\nBleeding defect due to decreased plasminogen activator inhibitor-1 {UMLS C3278773};\nDecreased euglobin lysis time {UMLS C3278774};\nIncreased fibrinolysis {SNOMEDCT:89470004} {UMLS C0151648,C2314905};\nMenorrhagia {SNOMEDCT:386692008} {ICD10CM:N92.0} {UMLS C0025323,C4553737 HP:0000132} {HPO HP:0000132 C0025323}''', 
'miscellaneous': '''Congenital onset {UMLS C1836142 HP:0003577} {HPO HP:0003577 C1836142,C2752013};\nSpontaneous bleeding is rare {UMLS C3278776};\nFavorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) {UMLS C3278777}''', 
'molecularBasis': 'Caused by mutation in the serpin peptidase inhibitor, clade E, member 1 gene (SERPINE1, {173360.0001})', 
'inheritanceExists': True, 
'growthExists': False, 
'growthHeightExists': False, 
'growthWeightExists': False, 
'growthOtherExists': False, 
'headAndNeckExists': False, 
'headAndNeckHeadExists': False, 
'headAndNeckFaceExists': False, 
'headAndNeckEarsExists': False, 
'headAndNeckEyesExists': False, 
'headAndNeckNoseExists': False, 
'headAndNeckMouthExists': False, 
'headAndNeckTeethExists': False, 
'headAndNeckNeckExists': False, 
'cardiovascularExists': False, 
'cardiovascularHeartExists': False, 
'cardiovascularVascularExists': False, 
'respiratoryExists': False, 
'respiratoryNasopharynxExists': False, 
'respiratoryLarynxExists': False, 
'respiratoryAirwaysExists': False, 
'respiratoryLungExists': False, 
'chestExists': False, 
'chestExternalFeaturesExists': False, 
'chestRibsSternumClaviclesAndScapulaeExists': False, 
'chestBreastsExists': False, 
'chestDiaphragmExists': False, 
'abdomenExists': False, 
'abdomenExternalFeaturesExists': False, 
'abdomenLiverExists': False, 
'abdomenPancreasExists': False, 
'abdomenBiliaryTractExists': False, 
'abdomenSpleenExists': False, 
'abdomenGastrointestinalExists': False, 
'genitourinaryExists': False, 
'genitourinaryExternalGenitaliaMaleExists': False, 
'genitourinaryExternalGenitaliaFemaleExists': False, 
'genitourinaryInternalGenitaliaMaleExists': False, 
'genitourinaryInternalGenitaliaFemaleExists': False, 
'genitourinaryKidneysExists': False, 
'genitourinaryUretersExists': False, 
'genitourinaryBladderExists': False, 
'skeletalExists': False, 
'skeletalSkullExists': False, 
'skeletalSpineExists': False, 
'skeletalPelvisExists': False, 
'skeletalLimbsExists': False, 
'skeletalHandsExists': False, 
'skeletalFeetExists': False, 
'skinNailsHairExists': False, 
'skinNailsHairSkinExists': False, 
'skinNailsHairSkinHistologyExists': False, 
'skinNailsHairSkinElectronMicroscopyExists': False, 
'skinNailsHairNailsExists': False, 
'skinNailsHairHairExists': False, 
'muscleSoftTissueExists': False, 
'neurologicExists': False, 
'neurologicCentralNervousSystemExists': False, 
'neurologicPeripheralNervousSystemExists': False, 
'neurologicBehavioralPsychiatricManifestationsExists': False, 
'voiceExists': False, 
'metabolicFeaturesExists': False, 
'endocrineFeaturesExists': False, 
'hematologyExists': True, 
'immunologyExists': False, 
'neoplasiaExists': False, 
'prenatalManifestationsExists': False, 
'prenatalManifestationsMovementExists': False, 
'prenatalManifestationsAmnioticFluidExists': False, 
'prenatalManifestationsPlacentaAndUmbilicalCordExists': False, 
'prenatalManifestationsMaternalExists': False, 
'prenatalManifestationsDeliveryExists': False, 
'laboratoryAbnormalitiesExists': False, 
'miscellaneousExists': True, 
'molecularBasisExists': True, 
'matches': ''
} 
} ] 
} 
} }