| {"Phenotype": ["HP:0000272", "HP:0000347", "HP:0000384", "HP:0000405", "HP:0000413", "HP:0000453", "HP:0000545", "HP:0008551", "HP:0008773", "HP:0009623", "HP:0010880", "HP:0011342", "HP:0011451", "HP:0011471"], "RareDisease": ["OMIM:610536", "ORPHA:79113"], "Department": null} | |
| {"Phenotype": ["HP:0000253", "HP:0000648", "HP:0001263", "HP:0001285", "HP:0001336", "HP:0001518", "HP:0001857", "HP:0003561", "HP:0009879", "HP:0009882", "HP:0011451", "HP:0012469", "HP:0100026"], "RareDisease": ["OMIM:614261"], "Department": null} | |
| {"Phenotype": ["HP:0000407", "HP:0000510", "HP:0001272", "HP:0001284", "HP:0001761", "HP:0001765", "HP:0002474", "HP:0003447", "HP:0003474", "HP:0007141", "HP:0007240", "HP:0009088", "HP:0011096", "HP:0200070"], "RareDisease": ["OMIM:233400"], "Department": null} | |
| {"Phenotype": ["HP:0002194", "HP:0002282", "HP:0007033", "HP:0008058"], "RareDisease": ["OMIM:615960"], "Department": null} | |
| {"Phenotype": ["HP:0000160", "HP:0000518", "HP:0000574", "HP:0000824", "HP:0002194", "HP:0002857", "HP:0002943", "HP:0003510", "HP:0005775", "HP:0007067", "HP:0008619", "HP:0011220"], "RareDisease": ["OMIM:616007", "ORPHA:436174"], "Department": null} | |
| {"Phenotype": ["HP:0000486", "HP:0000639", "HP:0000750", "HP:0001090", "HP:0001270", "HP:0001274", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0002418", "HP:0007033", "HP:0011003", "HP:0011932", "HP:0030283"], "RareDisease": ["OMIM:615960"], "Department": null} | |
| {"Phenotype": ["HP:0000486", "HP:0000545", "HP:0000639", "HP:0001090", "HP:0001270", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0007033", "HP:0007980"], "RareDisease": ["OMIM:615960"], "Department": null} | |
| {"Phenotype": ["HP:0000486", "HP:0000518", "HP:0000646", "HP:0000729", "HP:0000750", "HP:0001090", "HP:0001105", "HP:0001270", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0002418", "HP:0004691", "HP:0007033", "HP:0007980", "HP:0011003", "HP:0030285"], "RareDisease": ["OMIM:615960"], "Department": null} | |
| {"Phenotype": ["HP:0000479", "HP:0000545", "HP:0000657", "HP:0000750", "HP:0001270", "HP:0001290", "HP:0002198", "HP:0007033", "HP:0007068"], "RareDisease": ["OMIM:615960"], "Department": null} | |
| {"Phenotype": ["HP:0000486", "HP:0000533", "HP:0000639", "HP:0000657", "HP:0000750", "HP:0001090", "HP:0001270", "HP:0001290", "HP:0007033", "HP:0007068", "HP:0011003"], "RareDisease": ["OMIM:615960"], "Department": null} | |
| {"Phenotype": ["HP:0000175", "HP:0000201", "HP:0001328", "HP:0011968", "HP:0012418", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000201", "HP:0000218", "HP:0000494", "HP:0000670", "HP:0000878", "HP:0001328", "HP:0011968", "HP:0030279", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000316", "HP:0000494", "HP:0001257", "HP:0002011", "HP:0002072", "HP:0002091", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000453", "HP:0000465", "HP:0000476", "HP:0001040", "HP:0001631", "HP:0002650", "HP:0012306"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000201", "HP:0000218", "HP:0000765"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000405", "HP:0000824", "HP:0002650", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000883", "HP:0002025", "HP:0002650", "HP:0100543"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000175", "HP:0000201", "HP:0001631", "HP:0002093", "HP:0004719", "HP:0011968", "HP:0030282", "HP:0030300"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000204", "HP:0002098", "HP:0002650", "HP:0030282", "HP:0030300"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000201", "HP:0000405", "HP:0000486", "HP:0000540", "HP:0001631", "HP:0002098", "HP:0002650", "HP:0011968", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000405", "HP:0000878", "HP:0000883", "HP:0002650", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null} | |
| {"Phenotype": ["HP:0000160", "HP:0000272", "HP:0000286", "HP:0000337", "HP:0000639", "HP:0001250", "HP:0003196", "HP:0009765", "HP:0011344", "HP:0011347"], "RareDisease": ["OMIM:245570"], "Department": null} | |
| {"Phenotype": ["HP:0000926", "HP:0001230", "HP:0001999", "HP:0002104", "HP:0002866", "HP:0003025", "HP:0003180", "HP:0005257", "HP:0006009", "HP:0008416", "HP:0008905", "HP:0010049", "HP:0011675", "HP:0030306"], "RareDisease": ["OMIM:250220", "ORPHA:93317"], "Department": null} | |
| {"Phenotype": ["HP:0000926", "HP:0000946", "HP:0001248", "HP:0001290", "HP:0001321", "HP:0001678", "HP:0002079", "HP:0002098", "HP:0002123", "HP:0003180", "HP:0003375", "HP:0004273", "HP:0005108", "HP:0009879", "HP:0100255"], "RareDisease": ["OMIM:250220", "ORPHA:93317"], "Department": null} | |
| {"Phenotype": ["HP:0000495", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001395", "HP:0001773", "HP:0002019", "HP:0002171", "HP:0002353", "HP:0002910", "HP:0006254", "HP:0006579", "HP:0009830", "HP:0010605", "HP:0012520", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null} | |
| {"Phenotype": ["HP:0000252", "HP:0000495", "HP:0000522", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0002019", "HP:0002151", "HP:0002353", "HP:0002650", "HP:0002910", "HP:0009830"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null} | |
| {"Phenotype": ["HP:0000486", "HP:0000495", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001395", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002151", "HP:0002171", "HP:0002353", "HP:0002650", "HP:0002910", "HP:0006254", "HP:0006579", "HP:0006958", "HP:0010605", "HP:0012448", "HP:0012520", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null} | |
| {"Phenotype": ["HP:0000218", "HP:0000252", "HP:0000286", "HP:0000347", "HP:0000508", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002119", "HP:0002151", "HP:0002353", "HP:0002418", "HP:0002650", "HP:0003196", "HP:0006254", "HP:0006579", "HP:0009085", "HP:0009830", "HP:0009891", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null} | |
| {"Phenotype": ["HP:0000252", "HP:0000286", "HP:0001252", "HP:0001263", "HP:0001395", "HP:0001511", "HP:0002353", "HP:0003196", "HP:0006579", "HP:0006956", "HP:0100022"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null} | |
| {"Phenotype": ["HP:0000252", "HP:0000286", "HP:0000486", "HP:0000522", "HP:0000657", "HP:0001182", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001864", "HP:0002007", "HP:0002019", "HP:0002557", "HP:0002910", "HP:0005487", "HP:0006579", "HP:0010605", "HP:0010804", "HP:0011918"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null} | |
| {"Phenotype": ["HP:0000252", "HP:0000431", "HP:0000486", "HP:0000495", "HP:0000520", "HP:0000522", "HP:0000657", "HP:0000678", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002353", "HP:0002553", "HP:0002650", "HP:0005320", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null} | |
| {"Phenotype": ["HP:0000252", "HP:0000718", "HP:0001250", "HP:0010864"], "RareDisease": ["OMIM:604317", "ORPHA:2512"], "Department": null} | |
| {"Phenotype": ["HP:0000639", "HP:0000648", "HP:0001252", "HP:0001254", "HP:0001260", "HP:0002066", "HP:0002370", "HP:0007965", "HP:0008619"], "RareDisease": ["OMIM:601338", "ORPHA:1171"], "Department": null} | |
| {"Phenotype": ["HP:0000218", "HP:0000278", "HP:0000316", "HP:0000319", "HP:0000347", "HP:0000369", "HP:0000494", "HP:0000768", "HP:0001166", "HP:0001265", "HP:0001363", "HP:0001388", "HP:0001537", "HP:0001655", "HP:0001762", "HP:0001763", "HP:0002151", "HP:0002410", "HP:0002474", "HP:0002868", "HP:0003298", "HP:0003396", "HP:0006801", "HP:0006889", "HP:0010665", "HP:0011220"], "RareDisease": ["OMIM:182212", "ORPHA:2462"], "Department": null} | |
| {"Phenotype": ["HP:0000218", "HP:0000286", "HP:0000316", "HP:0000322", "HP:0000348", "HP:0000463", "HP:0000954", "HP:0001252", "HP:0001263", "HP:0001344", "HP:0002007", "HP:0002079", "HP:0002282", "HP:0002912", "HP:0003196", "HP:0006956", "HP:0007793", "HP:0008070", "HP:0010055", "HP:0010804", "HP:0012120", "HP:0012448", "HP:0040155", "HP:0045034"], "RareDisease": ["OMIM:614105"], "Department": null} | |
| {"Phenotype": ["HP:0000325", "HP:0000430", "HP:0000490", "HP:0000558", "HP:0000684", "HP:0004322", "HP:0007495", "HP:0009125"], "RareDisease": ["OMIM:269880", "ORPHA:3163"], "Department": null} | |
| {"Phenotype": ["HP:0000085", "HP:0000179", "HP:0000215", "HP:0000252", "HP:0000348", "HP:0000490", "HP:0000545", "HP:0000582", "HP:0000670", "HP:0000689", "HP:0001643", "HP:0002342", "HP:0003189", "HP:0009765", "HP:0009890", "HP:0012745"], "RareDisease": ["OMIM:613680"], "Department": null} | |
| {"Phenotype": ["HP:0000010", "HP:0000230", "HP:0000403", "HP:0001744", "HP:0001875", "HP:0001888", "HP:0004854", "HP:0004866", "HP:0005401", "HP:0012138"], "RareDisease": ["OMIM:612541", "CCRD:104"], "Department": null} | |
| {"Phenotype": ["HP:0001539", "HP:0005214", "HP:0011100"], "RareDisease": ["OMIM:243150", "ORPHA:436252"], "Department": null} | |
| {"Phenotype": ["HP:0000252", "HP:0000486", "HP:0000522", "HP:0000657", "HP:0001252", "HP:0001263", "HP:0001395", "HP:0001773", "HP:0002019", "HP:0002059", "HP:0002079", "HP:0002151", "HP:0002353", "HP:0002472", "HP:0002910", "HP:0006579", "HP:0006958", "HP:0010605", "HP:0030303", "HP:0100022", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null} | |