jsonl test
Browse files- RDpatient_data/PUMCH/PUMCH_ADM.jsonl +2 -0
- RDpatient_data/Public/HMS.json +0 -2493
- RDpatient_data/Public/LIRICAL.json +0 -0
- RDpatient_data/Public/MME.json +0 -797
- RDpatient_data/Public/RAMEDIS.json +0 -0
- README.md +20 -4
RDpatient_data/PUMCH/PUMCH_ADM.jsonl
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{"Phenotype": ["HP:0000722", "HP:0000750", "HP:0001319", "HP:0001350", "HP:0001530", "HP:0001558", "HP:0001612", "HP:0002033", "HP:0002577", "HP:0004324", "HP:0011951", "HP:0030748", "HP:0040217"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"]}
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{"Phenotype": ["HP:0000028", "HP:0000670", "HP:0001262", "HP:0001618", "HP:0008947", "HP:0011968", "HP:0012420"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"]}
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RDpatient_data/Public/HMS.json
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[
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[
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[
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"HP:0001225",
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"HP:0001382",
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"HP:0001443",
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"HP:0001894",
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"HP:0001974",
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"HP:0003419",
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"HP:0025238",
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"HP:0030833",
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"HP:0030834",
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"HP:0030835",
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"HP:0030836",
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"HP:0030839"
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],
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[
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"OMIM:106300"
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]
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],
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[
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[
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"HP:0000793",
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"HP:0001974",
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"HP:0002205",
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"HP:0002633",
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"HP:0003496",
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"HP:0100778"
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],
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[
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"OMIM:123550",
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"ORPHA:91138"
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]
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],
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[
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[
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"HP:0000155",
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"HP:0000246",
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"HP:0000360",
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"HP:0000365",
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"HP:0000572",
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"HP:0000651",
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"HP:0000787",
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"HP:0000790",
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"HP:0001097",
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"HP:0001155",
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"HP:0001279",
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"HP:0001369",
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"HP:0001880",
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"HP:0001947",
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"HP:0002018",
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"HP:0002027",
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"HP:0002150",
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"HP:0002315",
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"HP:0002321",
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"HP:0002653",
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"HP:0002875",
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"HP:0003236",
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"HP:0003326",
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"HP:0003401",
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"HP:0003418",
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"HP:0003474",
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"HP:0003537",
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"HP:0004411",
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"HP:0005197",
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"HP:0009763",
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"HP:0011935",
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"HP:0012378",
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"HP:0012595",
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"HP:0030140",
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"HP:0030833",
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"HP:0030836",
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"HP:0030840",
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"HP:0032154",
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"HP:0100749",
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"HP:0100827",
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"HP:0200034",
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"HP:0200039",
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"HP:0410019"
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],
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[
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"OMIM:109650",
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"ORPHA:117"
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]
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],
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[
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[
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"HP:0000421",
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"HP:0002105",
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"HP:0002113",
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"HP:0002829",
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"HP:0002907",
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"HP:0011227",
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"HP:0012213",
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"HP:0032230"
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],
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[
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"OMIM:608710",
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"ORPHA:900"
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]
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],
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[
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[
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"HP:0000093",
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"HP:0001541",
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"HP:0001735",
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"HP:0001744",
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"HP:0001876",
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"HP:0001945",
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"HP:0002014",
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"HP:0002027",
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"HP:0002586",
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"HP:0002829",
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"HP:0003236",
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"HP:0003324",
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"HP:0003326",
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"HP:0003493",
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"HP:0003546",
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"HP:0011106",
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"HP:0012378",
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"HP:0025435",
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"HP:0030010",
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"HP:0410019"
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],
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[
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"OMIM:152700",
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"OMIM:606579",
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| 128 |
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"OMIM:609939",
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"OMIM:614420",
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"ORPHA:93552"
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]
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],
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[
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[
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"HP:0000083",
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"HP:0000093",
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"HP:0000099",
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"HP:0000107",
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"HP:0000554",
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"HP:0001369",
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"HP:0001888",
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"HP:0002204",
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"HP:0002625",
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"HP:0002907",
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"HP:0003225",
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"HP:0003493",
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"HP:0005584",
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"HP:0030839",
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"HP:0032376"
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],
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[
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"OMIM:144700",
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"OMIM:152700",
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| 154 |
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"OMIM:300854",
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| 155 |
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"OMIM:605074",
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| 156 |
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"OMIM:606579",
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| 157 |
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"OMIM:609939",
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| 158 |
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"OMIM:614420",
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| 159 |
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"ORPHA:93552"
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-
]
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],
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[
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[
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"HP:0000089",
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"HP:0000107",
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"HP:0000217",
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"HP:0001407",
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"HP:0001785",
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"HP:0001962",
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"HP:0002015",
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"HP:0002018",
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"HP:0002020",
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"HP:0002027",
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"HP:0002036",
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"HP:0002110",
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"HP:0002321",
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"HP:0003138",
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"HP:0003165",
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"HP:0003236",
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"HP:0003259",
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"HP:0003418",
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"HP:0003565",
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| 183 |
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"HP:0006682",
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"HP:0009098",
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"HP:0011227",
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"HP:0011897",
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"HP:0012213",
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"HP:0012378",
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"HP:0012387",
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"HP:0012514",
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"HP:0025179",
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"HP:0025392",
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"HP:0030057",
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"HP:0030830",
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"HP:0030877",
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"HP:0032017",
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"HP:0045051",
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"HP:0100643",
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"HP:0410019"
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],
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| 201 |
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[
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"OMIM:270150"
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-
]
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],
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[
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[
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"HP:0000271",
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"HP:0000975",
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"HP:0000980",
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"HP:0001279",
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"HP:0001824",
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"HP:0001974",
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"HP:0002013",
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"HP:0002018",
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"HP:0002315",
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| 216 |
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"HP:0003546",
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"HP:0003565",
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"HP:0012378",
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"HP:0012531",
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"HP:0025143",
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| 221 |
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"HP:0030164"
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],
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| 223 |
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[
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"OMIM:187360",
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"ORPHA:397"
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]
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],
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[
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[
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"HP:0000540",
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| 231 |
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"HP:0000554",
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"HP:0001097",
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"HP:0001443",
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"HP:0002808",
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"HP:0002907",
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"HP:0003418",
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"HP:0005197",
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| 238 |
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"HP:0100512"
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],
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| 240 |
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[
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"OMIM:106300",
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| 242 |
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"OMIM:183840"
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-
]
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-
],
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| 245 |
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[
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[
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"HP:0000083",
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"HP:0000366",
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"HP:0000989",
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| 250 |
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"HP:0001639",
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| 251 |
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"HP:0001644",
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"HP:0001698",
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"HP:0001712",
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"HP:0001945",
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"HP:0002094",
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| 256 |
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"HP:0010876",
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| 257 |
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"HP:0012213",
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| 258 |
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"HP:0012378",
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| 259 |
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"HP:0012664",
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| 260 |
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"HP:0012735",
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"HP:0012819",
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| 262 |
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"HP:0032017"
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| 263 |
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],
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| 264 |
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[
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| 265 |
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"OMIM:207600",
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| 266 |
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"ORPHA:3287"
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-
]
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| 268 |
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],
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| 269 |
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[
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[
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"HP:0000012",
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| 272 |
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"HP:0000246",
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| 273 |
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"HP:0001649",
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| 274 |
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"HP:0001945",
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| 275 |
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"HP:0001974",
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| 276 |
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"HP:0002105",
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| 277 |
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"HP:0002202",
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| 278 |
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"HP:0003115",
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| 279 |
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"HP:0005110",
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| 280 |
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"HP:0011227",
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| 281 |
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"HP:0012735",
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| 282 |
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"HP:0020181",
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| 283 |
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"HP:0025392",
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| 284 |
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"HP:0100534",
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| 285 |
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"HP:0100749"
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| 286 |
-
],
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| 287 |
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[
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| 288 |
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"OMIM:608710",
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| 289 |
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"ORPHA:900"
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| 290 |
-
]
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| 291 |
-
],
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| 292 |
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[
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| 293 |
-
[
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| 294 |
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"HP:0000217",
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| 295 |
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"HP:0000633",
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| 296 |
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"HP:0001167",
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| 297 |
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"HP:0001225",
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| 298 |
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"HP:0001760",
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| 299 |
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"HP:0001935",
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| 300 |
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"HP:0002076",
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| 301 |
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"HP:0002815",
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| 302 |
-
"HP:0002829",
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| 303 |
-
"HP:0002923",
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| 304 |
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"HP:0003212",
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| 305 |
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"HP:0003237",
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| 306 |
-
"HP:0003326",
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| 307 |
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"HP:0003394",
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| 308 |
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"HP:0003493",
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| 309 |
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"HP:0004386",
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| 310 |
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"HP:0005197",
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| 311 |
-
"HP:0005263",
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| 312 |
-
"HP:0011911",
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| 313 |
-
"HP:0030836",
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| 314 |
-
"HP:0030839",
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| 315 |
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"HP:0030840",
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| 316 |
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"HP:0032235",
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| 317 |
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"HP:0032308"
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| 318 |
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],
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| 319 |
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[
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| 320 |
-
"OMIM:270150",
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| 321 |
-
"ORPHA:29207",
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| 322 |
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"ORPHA:85408",
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| 323 |
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"ORPHA:85414",
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| 324 |
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"ORPHA:85435"
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| 325 |
-
]
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| 326 |
-
],
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| 327 |
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[
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| 328 |
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[
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| 329 |
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"HP:0000097",
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| 330 |
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"HP:0001065",
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| 331 |
-
"HP:0002149",
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| 332 |
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"HP:0002155",
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| 333 |
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"HP:0002907",
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| 334 |
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"HP:0002910",
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| 335 |
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"HP:0003073",
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| 336 |
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"HP:0003124",
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| 337 |
-
"HP:0003138",
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| 338 |
-
"HP:0003149",
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| 339 |
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"HP:0003565",
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| 340 |
-
"HP:0005413",
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| 341 |
-
"HP:0007390",
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| 342 |
-
"HP:0009741",
|
| 343 |
-
"HP:0010783",
|
| 344 |
-
"HP:0010931",
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| 345 |
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"HP:0011227",
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| 346 |
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"HP:0012213",
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| 347 |
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"HP:0012595",
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| 348 |
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"HP:0012611",
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| 349 |
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"HP:0100515"
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| 350 |
-
],
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| 351 |
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[
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| 352 |
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"OMIM:603278",
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| 353 |
-
"OMIM:603965",
|
| 354 |
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"OMIM:607832",
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| 355 |
-
"OMIM:612551",
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| 356 |
-
"OMIM:613237",
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| 357 |
-
"OMIM:614131",
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| 358 |
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"OMIM:616002",
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| 359 |
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"OMIM:616032",
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| 360 |
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"OMIM:616220"
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| 361 |
-
]
|
| 362 |
-
],
|
| 363 |
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[
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| 364 |
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[
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| 365 |
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"HP:0000155",
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| 366 |
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"HP:0000246",
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| 367 |
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"HP:0000433",
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| 368 |
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"HP:0001894",
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| 369 |
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"HP:0001945",
|
| 370 |
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"HP:0001974",
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| 371 |
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"HP:0002094",
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| 372 |
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"HP:0002815",
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| 373 |
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"HP:0003155",
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| 374 |
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"HP:0003565",
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| 375 |
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"HP:0005413",
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| 376 |
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"HP:0011227",
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| 377 |
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"HP:0012219",
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| 378 |
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"HP:0025289",
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| 379 |
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"HP:0030948",
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| 380 |
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"HP:0032118",
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| 381 |
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"HP:0032154",
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| 382 |
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"HP:0100721",
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| 383 |
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"HP:0100749"
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| 384 |
-
],
|
| 385 |
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[
|
| 386 |
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"OMIM:109650",
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| 387 |
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"ORPHA:117"
|
| 388 |
-
]
|
| 389 |
-
],
|
| 390 |
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[
|
| 391 |
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[
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| 392 |
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"HP:0000083",
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| 393 |
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"HP:0000099",
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| 394 |
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"HP:0000246",
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| 395 |
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"HP:0000366",
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| 396 |
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"HP:0000509",
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"HP:0001945",
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| 398 |
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"HP:0002105",
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| 399 |
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"HP:0003546",
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| 400 |
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"HP:0012735",
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| 401 |
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"HP:0030834",
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| 402 |
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"HP:0030835",
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| 403 |
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"HP:0030839",
|
| 404 |
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"HP:0040223",
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| 405 |
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"HP:0100520"
|
| 406 |
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],
|
| 407 |
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[
|
| 408 |
-
"OMIM:608710",
|
| 409 |
-
"ORPHA:900"
|
| 410 |
-
]
|
| 411 |
-
],
|
| 412 |
-
[
|
| 413 |
-
[
|
| 414 |
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"HP:0000083",
|
| 415 |
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"HP:0000107",
|
| 416 |
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"HP:0000572",
|
| 417 |
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"HP:0000822",
|
| 418 |
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"HP:0000979",
|
| 419 |
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"HP:0001397",
|
| 420 |
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"HP:0001407",
|
| 421 |
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"HP:0001970",
|
| 422 |
-
"HP:0002018",
|
| 423 |
-
"HP:0002088",
|
| 424 |
-
"HP:0002094",
|
| 425 |
-
"HP:0002315",
|
| 426 |
-
"HP:0002907",
|
| 427 |
-
"HP:0009741",
|
| 428 |
-
"HP:0012085",
|
| 429 |
-
"HP:0012378",
|
| 430 |
-
"HP:0012398",
|
| 431 |
-
"HP:0012461",
|
| 432 |
-
"HP:0012594",
|
| 433 |
-
"HP:0012735",
|
| 434 |
-
"HP:0031812",
|
| 435 |
-
"HP:0100721"
|
| 436 |
-
],
|
| 437 |
-
[
|
| 438 |
-
"OMIM:181000",
|
| 439 |
-
"OMIM:612387",
|
| 440 |
-
"ORPHA:797"
|
| 441 |
-
]
|
| 442 |
-
],
|
| 443 |
-
[
|
| 444 |
-
[
|
| 445 |
-
"HP:0000100",
|
| 446 |
-
"HP:0000366",
|
| 447 |
-
"HP:0000790",
|
| 448 |
-
"HP:0000793",
|
| 449 |
-
"HP:0000979",
|
| 450 |
-
"HP:0001225",
|
| 451 |
-
"HP:0002094",
|
| 452 |
-
"HP:0002155",
|
| 453 |
-
"HP:0003124",
|
| 454 |
-
"HP:0004324",
|
| 455 |
-
"HP:0010741",
|
| 456 |
-
"HP:0012398",
|
| 457 |
-
"HP:0012596",
|
| 458 |
-
"HP:0012597",
|
| 459 |
-
"HP:0031504"
|
| 460 |
-
],
|
| 461 |
-
[
|
| 462 |
-
"ORPHA:761"
|
| 463 |
-
]
|
| 464 |
-
],
|
| 465 |
-
[
|
| 466 |
-
[
|
| 467 |
-
"HP:0000164",
|
| 468 |
-
"HP:0001596",
|
| 469 |
-
"HP:0002659",
|
| 470 |
-
"HP:0003282",
|
| 471 |
-
"HP:0004322",
|
| 472 |
-
"HP:0005268",
|
| 473 |
-
"HP:0012378",
|
| 474 |
-
"HP:0012514",
|
| 475 |
-
"HP:0031456"
|
| 476 |
-
],
|
| 477 |
-
[
|
| 478 |
-
"CCRD:50",
|
| 479 |
-
"OMIM:146300",
|
| 480 |
-
"ORPHA:436"
|
| 481 |
-
]
|
| 482 |
-
],
|
| 483 |
-
[
|
| 484 |
-
[
|
| 485 |
-
"HP:0000265",
|
| 486 |
-
"HP:0000365",
|
| 487 |
-
"HP:0000666",
|
| 488 |
-
"HP:0000858",
|
| 489 |
-
"HP:0001649",
|
| 490 |
-
"HP:0001785",
|
| 491 |
-
"HP:0001824",
|
| 492 |
-
"HP:0001962",
|
| 493 |
-
"HP:0002321",
|
| 494 |
-
"HP:0005421",
|
| 495 |
-
"HP:0010628",
|
| 496 |
-
"HP:0030057",
|
| 497 |
-
"HP:0045042",
|
| 498 |
-
"HP:0200097"
|
| 499 |
-
],
|
| 500 |
-
[
|
| 501 |
-
"OMIM:181000",
|
| 502 |
-
"OMIM:612387",
|
| 503 |
-
"ORPHA:797"
|
| 504 |
-
]
|
| 505 |
-
],
|
| 506 |
-
[
|
| 507 |
-
[
|
| 508 |
-
"HP:0000246",
|
| 509 |
-
"HP:0000520",
|
| 510 |
-
"HP:0000651",
|
| 511 |
-
"HP:0000822",
|
| 512 |
-
"HP:0001144",
|
| 513 |
-
"HP:0001653",
|
| 514 |
-
"HP:0001659",
|
| 515 |
-
"HP:0001712",
|
| 516 |
-
"HP:0002155",
|
| 517 |
-
"HP:0002240",
|
| 518 |
-
"HP:0002896",
|
| 519 |
-
"HP:0003124",
|
| 520 |
-
"HP:0005180",
|
| 521 |
-
"HP:0012213",
|
| 522 |
-
"HP:0012246",
|
| 523 |
-
"HP:0032300",
|
| 524 |
-
"HP:0100540"
|
| 525 |
-
],
|
| 526 |
-
[
|
| 527 |
-
"CCRD:56",
|
| 528 |
-
"OMIM:228800",
|
| 529 |
-
"ORPHA:49041"
|
| 530 |
-
]
|
| 531 |
-
],
|
| 532 |
-
[
|
| 533 |
-
[
|
| 534 |
-
"HP:0000365",
|
| 535 |
-
"HP:0001649",
|
| 536 |
-
"HP:0001744",
|
| 537 |
-
"HP:0001945",
|
| 538 |
-
"HP:0002153",
|
| 539 |
-
"HP:0002321",
|
| 540 |
-
"HP:0002850",
|
| 541 |
-
"HP:0003072",
|
| 542 |
-
"HP:0003115",
|
| 543 |
-
"HP:0003565",
|
| 544 |
-
"HP:0005339",
|
| 545 |
-
"HP:0011227",
|
| 546 |
-
"HP:0011788",
|
| 547 |
-
"HP:0025238",
|
| 548 |
-
"HP:0030835",
|
| 549 |
-
"HP:0030836",
|
| 550 |
-
"HP:0030838",
|
| 551 |
-
"HP:0030839"
|
| 552 |
-
],
|
| 553 |
-
[
|
| 554 |
-
"OMIM:120100",
|
| 555 |
-
"OMIM:191900",
|
| 556 |
-
"OMIM:607115",
|
| 557 |
-
"OMIM:611762",
|
| 558 |
-
"OMIM:614468",
|
| 559 |
-
"OMIM:616115",
|
| 560 |
-
"ORPHA:1451",
|
| 561 |
-
"ORPHA:47045",
|
| 562 |
-
"ORPHA:575"
|
| 563 |
-
]
|
| 564 |
-
],
|
| 565 |
-
[
|
| 566 |
-
[
|
| 567 |
-
"HP:0000010",
|
| 568 |
-
"HP:0000230",
|
| 569 |
-
"HP:0000282",
|
| 570 |
-
"HP:0000421",
|
| 571 |
-
"HP:0000975",
|
| 572 |
-
"HP:0001600",
|
| 573 |
-
"HP:0001824",
|
| 574 |
-
"HP:0001880",
|
| 575 |
-
"HP:0001935",
|
| 576 |
-
"HP:0002105",
|
| 577 |
-
"HP:0002113",
|
| 578 |
-
"HP:0002153",
|
| 579 |
-
"HP:0002875",
|
| 580 |
-
"HP:0003546",
|
| 581 |
-
"HP:0008221",
|
| 582 |
-
"HP:0010287",
|
| 583 |
-
"HP:0010628",
|
| 584 |
-
"HP:0011227",
|
| 585 |
-
"HP:0012378",
|
| 586 |
-
"HP:0012398",
|
| 587 |
-
"HP:0025289",
|
| 588 |
-
"HP:0025392",
|
| 589 |
-
"HP:0030001",
|
| 590 |
-
"HP:0030835",
|
| 591 |
-
"HP:0030839",
|
| 592 |
-
"HP:0031098",
|
| 593 |
-
"HP:0031292",
|
| 594 |
-
"HP:0032230",
|
| 595 |
-
"HP:0100631"
|
| 596 |
-
],
|
| 597 |
-
[
|
| 598 |
-
"OMIM:181000",
|
| 599 |
-
"OMIM:612387",
|
| 600 |
-
"ORPHA:797"
|
| 601 |
-
]
|
| 602 |
-
],
|
| 603 |
-
[
|
| 604 |
-
[
|
| 605 |
-
"HP:0000036",
|
| 606 |
-
"HP:0000155",
|
| 607 |
-
"HP:0000421",
|
| 608 |
-
"HP:0000554",
|
| 609 |
-
"HP:0000572",
|
| 610 |
-
"HP:0000790",
|
| 611 |
-
"HP:0000822",
|
| 612 |
-
"HP:0001369",
|
| 613 |
-
"HP:0001785",
|
| 614 |
-
"HP:0002027",
|
| 615 |
-
"HP:0002380",
|
| 616 |
-
"HP:0002829",
|
| 617 |
-
"HP:0002910",
|
| 618 |
-
"HP:0002922",
|
| 619 |
-
"HP:0003236",
|
| 620 |
-
"HP:0003259",
|
| 621 |
-
"HP:0003326",
|
| 622 |
-
"HP:0003394",
|
| 623 |
-
"HP:0003416",
|
| 624 |
-
"HP:0003418",
|
| 625 |
-
"HP:0003474",
|
| 626 |
-
"HP:0007042",
|
| 627 |
-
"HP:0009027",
|
| 628 |
-
"HP:0010280",
|
| 629 |
-
"HP:0011911",
|
| 630 |
-
"HP:0012378",
|
| 631 |
-
"HP:0012534",
|
| 632 |
-
"HP:0025435",
|
| 633 |
-
"HP:0030948",
|
| 634 |
-
"HP:0032101",
|
| 635 |
-
"HP:0032154",
|
| 636 |
-
"HP:0100518",
|
| 637 |
-
"HP:0410019"
|
| 638 |
-
],
|
| 639 |
-
[
|
| 640 |
-
"OMIM:109650",
|
| 641 |
-
"ORPHA:117"
|
| 642 |
-
]
|
| 643 |
-
],
|
| 644 |
-
[
|
| 645 |
-
[
|
| 646 |
-
"HP:0000989",
|
| 647 |
-
"HP:0001649",
|
| 648 |
-
"HP:0001785",
|
| 649 |
-
"HP:0001824",
|
| 650 |
-
"HP:0001888",
|
| 651 |
-
"HP:0001903",
|
| 652 |
-
"HP:0001945",
|
| 653 |
-
"HP:0001974",
|
| 654 |
-
"HP:0002815",
|
| 655 |
-
"HP:0003073",
|
| 656 |
-
"HP:0003115",
|
| 657 |
-
"HP:0003236",
|
| 658 |
-
"HP:0003326",
|
| 659 |
-
"HP:0003458",
|
| 660 |
-
"HP:0003493",
|
| 661 |
-
"HP:0003546",
|
| 662 |
-
"HP:0003565",
|
| 663 |
-
"HP:0005197",
|
| 664 |
-
"HP:0005413",
|
| 665 |
-
"HP:0006163",
|
| 666 |
-
"HP:0010783",
|
| 667 |
-
"HP:0011227",
|
| 668 |
-
"HP:0011897",
|
| 669 |
-
"HP:0012514",
|
| 670 |
-
"HP:0012735",
|
| 671 |
-
"HP:0025131",
|
| 672 |
-
"HP:0030167",
|
| 673 |
-
"HP:0032232",
|
| 674 |
-
"HP:0100614",
|
| 675 |
-
"HP:0100643",
|
| 676 |
-
"HP:0410174"
|
| 677 |
-
],
|
| 678 |
-
[
|
| 679 |
-
"ORPHA:81"
|
| 680 |
-
]
|
| 681 |
-
],
|
| 682 |
-
[
|
| 683 |
-
[
|
| 684 |
-
"HP:0000961",
|
| 685 |
-
"HP:0001397",
|
| 686 |
-
"HP:0001880",
|
| 687 |
-
"HP:0002113",
|
| 688 |
-
"HP:0002716",
|
| 689 |
-
"HP:0002910",
|
| 690 |
-
"HP:0003124",
|
| 691 |
-
"HP:0003165",
|
| 692 |
-
"HP:0003212",
|
| 693 |
-
"HP:0011799",
|
| 694 |
-
"HP:0030057",
|
| 695 |
-
"HP:0030948"
|
| 696 |
-
],
|
| 697 |
-
[
|
| 698 |
-
"ORPHA:482"
|
| 699 |
-
]
|
| 700 |
-
],
|
| 701 |
-
[
|
| 702 |
-
[
|
| 703 |
-
"HP:0000246",
|
| 704 |
-
"HP:0001880",
|
| 705 |
-
"HP:0002094",
|
| 706 |
-
"HP:0002113",
|
| 707 |
-
"HP:0003212",
|
| 708 |
-
"HP:0025392",
|
| 709 |
-
"HP:0030057",
|
| 710 |
-
"HP:0100582"
|
| 711 |
-
],
|
| 712 |
-
[
|
| 713 |
-
"ORPHA:183"
|
| 714 |
-
]
|
| 715 |
-
],
|
| 716 |
-
[
|
| 717 |
-
[
|
| 718 |
-
"HP:0000155",
|
| 719 |
-
"HP:0000853",
|
| 720 |
-
"HP:0001369",
|
| 721 |
-
"HP:0001600",
|
| 722 |
-
"HP:0001903",
|
| 723 |
-
"HP:0001962",
|
| 724 |
-
"HP:0002020",
|
| 725 |
-
"HP:0002315",
|
| 726 |
-
"HP:0002380",
|
| 727 |
-
"HP:0002385",
|
| 728 |
-
"HP:0002815",
|
| 729 |
-
"HP:0002829",
|
| 730 |
-
"HP:0003326",
|
| 731 |
-
"HP:0003445",
|
| 732 |
-
"HP:0003474",
|
| 733 |
-
"HP:0003493",
|
| 734 |
-
"HP:0005421",
|
| 735 |
-
"HP:0006261",
|
| 736 |
-
"HP:0010876",
|
| 737 |
-
"HP:0011712",
|
| 738 |
-
"HP:0011717",
|
| 739 |
-
"HP:0011911",
|
| 740 |
-
"HP:0012513",
|
| 741 |
-
"HP:0012534",
|
| 742 |
-
"HP:0030833",
|
| 743 |
-
"HP:0030835",
|
| 744 |
-
"HP:0030837",
|
| 745 |
-
"HP:0030839",
|
| 746 |
-
"HP:0031731",
|
| 747 |
-
"HP:0032154",
|
| 748 |
-
"HP:0100643",
|
| 749 |
-
"HP:0410281"
|
| 750 |
-
],
|
| 751 |
-
[
|
| 752 |
-
"ORPHA:81"
|
| 753 |
-
]
|
| 754 |
-
],
|
| 755 |
-
[
|
| 756 |
-
[
|
| 757 |
-
"HP:0000245",
|
| 758 |
-
"HP:0000421",
|
| 759 |
-
"HP:0000433",
|
| 760 |
-
"HP:0002105",
|
| 761 |
-
"HP:0025095",
|
| 762 |
-
"HP:0030835",
|
| 763 |
-
"HP:0030839",
|
| 764 |
-
"HP:0030840"
|
| 765 |
-
],
|
| 766 |
-
[
|
| 767 |
-
"OMIM:608710",
|
| 768 |
-
"ORPHA:900"
|
| 769 |
-
]
|
| 770 |
-
],
|
| 771 |
-
[
|
| 772 |
-
[
|
| 773 |
-
"HP:0001397",
|
| 774 |
-
"HP:0001945",
|
| 775 |
-
"HP:0001974",
|
| 776 |
-
"HP:0002020",
|
| 777 |
-
"HP:0002240",
|
| 778 |
-
"HP:0002896",
|
| 779 |
-
"HP:0002910",
|
| 780 |
-
"HP:0003418",
|
| 781 |
-
"HP:0003546",
|
| 782 |
-
"HP:0005165",
|
| 783 |
-
"HP:0005197",
|
| 784 |
-
"HP:0008775",
|
| 785 |
-
"HP:0011227",
|
| 786 |
-
"HP:0012317",
|
| 787 |
-
"HP:0012378",
|
| 788 |
-
"HP:0030830",
|
| 789 |
-
"HP:0030835",
|
| 790 |
-
"HP:0030839",
|
| 791 |
-
"HP:0030948",
|
| 792 |
-
"HP:0031352",
|
| 793 |
-
"HP:0045051",
|
| 794 |
-
"HP:0045073",
|
| 795 |
-
"HP:0100749",
|
| 796 |
-
"HP:0200041"
|
| 797 |
-
],
|
| 798 |
-
[
|
| 799 |
-
"OMIM:106300",
|
| 800 |
-
"OMIM:183840"
|
| 801 |
-
]
|
| 802 |
-
],
|
| 803 |
-
[
|
| 804 |
-
[
|
| 805 |
-
"HP:0001974",
|
| 806 |
-
"HP:0002754",
|
| 807 |
-
"HP:0003565",
|
| 808 |
-
"HP:0011227",
|
| 809 |
-
"HP:0030793",
|
| 810 |
-
"HP:0040264",
|
| 811 |
-
"HP:0100774",
|
| 812 |
-
"HP:0100847"
|
| 813 |
-
],
|
| 814 |
-
[
|
| 815 |
-
"ORPHA:793"
|
| 816 |
-
]
|
| 817 |
-
],
|
| 818 |
-
[
|
| 819 |
-
[
|
| 820 |
-
"HP:0002814",
|
| 821 |
-
"HP:0002907",
|
| 822 |
-
"HP:0003236",
|
| 823 |
-
"HP:0003401",
|
| 824 |
-
"HP:0003565",
|
| 825 |
-
"HP:0008151",
|
| 826 |
-
"HP:0011227",
|
| 827 |
-
"HP:0012733",
|
| 828 |
-
"HP:0045042",
|
| 829 |
-
"HP:0200041"
|
| 830 |
-
],
|
| 831 |
-
[
|
| 832 |
-
"OMIM:615688",
|
| 833 |
-
"ORPHA:767"
|
| 834 |
-
]
|
| 835 |
-
],
|
| 836 |
-
[
|
| 837 |
-
[
|
| 838 |
-
"HP:0001824",
|
| 839 |
-
"HP:0001882",
|
| 840 |
-
"HP:0002094",
|
| 841 |
-
"HP:0002321",
|
| 842 |
-
"HP:0003236",
|
| 843 |
-
"HP:0003546",
|
| 844 |
-
"HP:0025179",
|
| 845 |
-
"HP:0025238",
|
| 846 |
-
"HP:0030057",
|
| 847 |
-
"HP:0045051"
|
| 848 |
-
],
|
| 849 |
-
[
|
| 850 |
-
"ORPHA:81"
|
| 851 |
-
]
|
| 852 |
-
],
|
| 853 |
-
[
|
| 854 |
-
[
|
| 855 |
-
"HP:0000072",
|
| 856 |
-
"HP:0001744",
|
| 857 |
-
"HP:0003259",
|
| 858 |
-
"HP:0004942",
|
| 859 |
-
"HP:0005200",
|
| 860 |
-
"HP:0008714",
|
| 861 |
-
"HP:0011227",
|
| 862 |
-
"HP:0030150",
|
| 863 |
-
"HP:0030423",
|
| 864 |
-
"HP:0032300",
|
| 865 |
-
"HP:0100581"
|
| 866 |
-
],
|
| 867 |
-
[
|
| 868 |
-
"ORPHA:49041"
|
| 869 |
-
]
|
| 870 |
-
],
|
| 871 |
-
[
|
| 872 |
-
[
|
| 873 |
-
"HP:0000017",
|
| 874 |
-
"HP:0001600",
|
| 875 |
-
"HP:0001824",
|
| 876 |
-
"HP:0001873",
|
| 877 |
-
"HP:0001903",
|
| 878 |
-
"HP:0001945",
|
| 879 |
-
"HP:0001974",
|
| 880 |
-
"HP:0002315",
|
| 881 |
-
"HP:0002923",
|
| 882 |
-
"HP:0003165",
|
| 883 |
-
"HP:0003262",
|
| 884 |
-
"HP:0003326",
|
| 885 |
-
"HP:0005339",
|
| 886 |
-
"HP:0010931",
|
| 887 |
-
"HP:0011227",
|
| 888 |
-
"HP:0012213",
|
| 889 |
-
"HP:0012514",
|
| 890 |
-
"HP:0012664",
|
| 891 |
-
"HP:0030155",
|
| 892 |
-
"HP:0030166",
|
| 893 |
-
"HP:0030948",
|
| 894 |
-
"HP:0031520",
|
| 895 |
-
"HP:0032300",
|
| 896 |
-
"HP:0100512",
|
| 897 |
-
"HP:0100614"
|
| 898 |
-
],
|
| 899 |
-
[
|
| 900 |
-
"ORPHA:732"
|
| 901 |
-
]
|
| 902 |
-
],
|
| 903 |
-
[
|
| 904 |
-
[
|
| 905 |
-
"HP:0000010",
|
| 906 |
-
"HP:0001155",
|
| 907 |
-
"HP:0001225",
|
| 908 |
-
"HP:0001443",
|
| 909 |
-
"HP:0001882",
|
| 910 |
-
"HP:0001935",
|
| 911 |
-
"HP:0001943",
|
| 912 |
-
"HP:0002315",
|
| 913 |
-
"HP:0002321",
|
| 914 |
-
"HP:0003401",
|
| 915 |
-
"HP:0003416",
|
| 916 |
-
"HP:0003418",
|
| 917 |
-
"HP:0003474",
|
| 918 |
-
"HP:0003565",
|
| 919 |
-
"HP:0005197",
|
| 920 |
-
"HP:0005421",
|
| 921 |
-
"HP:0006979",
|
| 922 |
-
"HP:0011227",
|
| 923 |
-
"HP:0012317",
|
| 924 |
-
"HP:0012513",
|
| 925 |
-
"HP:0025230",
|
| 926 |
-
"HP:0030834",
|
| 927 |
-
"HP:0030836",
|
| 928 |
-
"HP:0030839",
|
| 929 |
-
"HP:0031185",
|
| 930 |
-
"HP:0100686"
|
| 931 |
-
],
|
| 932 |
-
[
|
| 933 |
-
"OMIM:106300",
|
| 934 |
-
"OMIM:183840"
|
| 935 |
-
]
|
| 936 |
-
],
|
| 937 |
-
[
|
| 938 |
-
[
|
| 939 |
-
"HP:0000103",
|
| 940 |
-
"HP:0001061",
|
| 941 |
-
"HP:0001959",
|
| 942 |
-
"HP:0002315",
|
| 943 |
-
"HP:0002815",
|
| 944 |
-
"HP:0002829",
|
| 945 |
-
"HP:0003236",
|
| 946 |
-
"HP:0005197",
|
| 947 |
-
"HP:0011911",
|
| 948 |
-
"HP:0012378",
|
| 949 |
-
"HP:0025238",
|
| 950 |
-
"HP:0030835",
|
| 951 |
-
"HP:0030836",
|
| 952 |
-
"HP:0030839",
|
| 953 |
-
"HP:0030841",
|
| 954 |
-
"HP:0032300"
|
| 955 |
-
],
|
| 956 |
-
[
|
| 957 |
-
"CCRD:28",
|
| 958 |
-
"OMIM:134610",
|
| 959 |
-
"OMIM:249100",
|
| 960 |
-
"ORPHA:29207",
|
| 961 |
-
"ORPHA:342",
|
| 962 |
-
"ORPHA:85408",
|
| 963 |
-
"ORPHA:85414",
|
| 964 |
-
"ORPHA:85435"
|
| 965 |
-
]
|
| 966 |
-
],
|
| 967 |
-
[
|
| 968 |
-
[
|
| 969 |
-
"HP:0000155",
|
| 970 |
-
"HP:0000651",
|
| 971 |
-
"HP:0001167",
|
| 972 |
-
"HP:0001279",
|
| 973 |
-
"HP:0001369",
|
| 974 |
-
"HP:0001945",
|
| 975 |
-
"HP:0001974",
|
| 976 |
-
"HP:0002315",
|
| 977 |
-
"HP:0002907",
|
| 978 |
-
"HP:0003043",
|
| 979 |
-
"HP:0003249",
|
| 980 |
-
"HP:0003326",
|
| 981 |
-
"HP:0003401",
|
| 982 |
-
"HP:0003418",
|
| 983 |
-
"HP:0003474",
|
| 984 |
-
"HP:0003546",
|
| 985 |
-
"HP:0003565",
|
| 986 |
-
"HP:0005413",
|
| 987 |
-
"HP:0011227",
|
| 988 |
-
"HP:0011706",
|
| 989 |
-
"HP:0012378",
|
| 990 |
-
"HP:0012574",
|
| 991 |
-
"HP:0012595",
|
| 992 |
-
"HP:0030837",
|
| 993 |
-
"HP:0032154",
|
| 994 |
-
"HP:0032308"
|
| 995 |
-
],
|
| 996 |
-
[
|
| 997 |
-
"CCRD:28",
|
| 998 |
-
"OMIM:109650",
|
| 999 |
-
"OMIM:134610",
|
| 1000 |
-
"OMIM:249100",
|
| 1001 |
-
"ORPHA:117",
|
| 1002 |
-
"ORPHA:342"
|
| 1003 |
-
]
|
| 1004 |
-
],
|
| 1005 |
-
[
|
| 1006 |
-
[
|
| 1007 |
-
"HP:0000365",
|
| 1008 |
-
"HP:0000421",
|
| 1009 |
-
"HP:0001288",
|
| 1010 |
-
"HP:0001945",
|
| 1011 |
-
"HP:0003326",
|
| 1012 |
-
"HP:0011227",
|
| 1013 |
-
"HP:0012378",
|
| 1014 |
-
"HP:0012514",
|
| 1015 |
-
"HP:0030766",
|
| 1016 |
-
"HP:0032230"
|
| 1017 |
-
],
|
| 1018 |
-
[
|
| 1019 |
-
"OMIM:608710",
|
| 1020 |
-
"ORPHA:900"
|
| 1021 |
-
]
|
| 1022 |
-
],
|
| 1023 |
-
[
|
| 1024 |
-
[
|
| 1025 |
-
"HP:0000083",
|
| 1026 |
-
"HP:0000093",
|
| 1027 |
-
"HP:0000099",
|
| 1028 |
-
"HP:0000141",
|
| 1029 |
-
"HP:0000790",
|
| 1030 |
-
"HP:0001369",
|
| 1031 |
-
"HP:0001744",
|
| 1032 |
-
"HP:0001935",
|
| 1033 |
-
"HP:0002015",
|
| 1034 |
-
"HP:0002094",
|
| 1035 |
-
"HP:0002240",
|
| 1036 |
-
"HP:0003493",
|
| 1037 |
-
"HP:0003645",
|
| 1038 |
-
"HP:0004326",
|
| 1039 |
-
"HP:0012213",
|
| 1040 |
-
"HP:0012398",
|
| 1041 |
-
"HP:0031504",
|
| 1042 |
-
"HP:0032235",
|
| 1043 |
-
"HP:0045073",
|
| 1044 |
-
"HP:0100643"
|
| 1045 |
-
],
|
| 1046 |
-
[
|
| 1047 |
-
"OMIM:152700",
|
| 1048 |
-
"OMIM:606579",
|
| 1049 |
-
"OMIM:609939",
|
| 1050 |
-
"OMIM:614420",
|
| 1051 |
-
"ORPHA:809",
|
| 1052 |
-
"ORPHA:93552"
|
| 1053 |
-
]
|
| 1054 |
-
],
|
| 1055 |
-
[
|
| 1056 |
-
[
|
| 1057 |
-
"HP:0000103",
|
| 1058 |
-
"HP:0000572",
|
| 1059 |
-
"HP:0000790",
|
| 1060 |
-
"HP:0000958",
|
| 1061 |
-
"HP:0001097",
|
| 1062 |
-
"HP:0001337",
|
| 1063 |
-
"HP:0002014",
|
| 1064 |
-
"HP:0002019",
|
| 1065 |
-
"HP:0002046",
|
| 1066 |
-
"HP:0002076",
|
| 1067 |
-
"HP:0002875",
|
| 1068 |
-
"HP:0003326",
|
| 1069 |
-
"HP:0003546",
|
| 1070 |
-
"HP:0011123",
|
| 1071 |
-
"HP:0012378",
|
| 1072 |
-
"HP:0012735",
|
| 1073 |
-
"HP:0030972",
|
| 1074 |
-
"HP:0032300",
|
| 1075 |
-
"HP:0410281"
|
| 1076 |
-
],
|
| 1077 |
-
[
|
| 1078 |
-
"CCRD:56",
|
| 1079 |
-
"OMIM:228800",
|
| 1080 |
-
"ORPHA:49041"
|
| 1081 |
-
]
|
| 1082 |
-
],
|
| 1083 |
-
[
|
| 1084 |
-
[
|
| 1085 |
-
"HP:0000246",
|
| 1086 |
-
"HP:0000366",
|
| 1087 |
-
"HP:0000388",
|
| 1088 |
-
"HP:0001945",
|
| 1089 |
-
"HP:0002315",
|
| 1090 |
-
"HP:0003546",
|
| 1091 |
-
"HP:0030835",
|
| 1092 |
-
"HP:0030839"
|
| 1093 |
-
],
|
| 1094 |
-
[
|
| 1095 |
-
"OMIM:608710",
|
| 1096 |
-
"ORPHA:900"
|
| 1097 |
-
]
|
| 1098 |
-
],
|
| 1099 |
-
[
|
| 1100 |
-
[
|
| 1101 |
-
"HP:0000772",
|
| 1102 |
-
"HP:0000939",
|
| 1103 |
-
"HP:0002650",
|
| 1104 |
-
"HP:0002829",
|
| 1105 |
-
"HP:0003124",
|
| 1106 |
-
"HP:0003282",
|
| 1107 |
-
"HP:0003326",
|
| 1108 |
-
"HP:0003394",
|
| 1109 |
-
"HP:0003418",
|
| 1110 |
-
"HP:0003493",
|
| 1111 |
-
"HP:0008422",
|
| 1112 |
-
"HP:0012184",
|
| 1113 |
-
"HP:0030839",
|
| 1114 |
-
"HP:0030840"
|
| 1115 |
-
],
|
| 1116 |
-
[
|
| 1117 |
-
"CCRD:50",
|
| 1118 |
-
"OMIM:146300",
|
| 1119 |
-
"ORPHA:436"
|
| 1120 |
-
]
|
| 1121 |
-
],
|
| 1122 |
-
[
|
| 1123 |
-
[
|
| 1124 |
-
"HP:0000089",
|
| 1125 |
-
"HP:0000097",
|
| 1126 |
-
"HP:0000121",
|
| 1127 |
-
"HP:0001397",
|
| 1128 |
-
"HP:0001407",
|
| 1129 |
-
"HP:0001744",
|
| 1130 |
-
"HP:0001873",
|
| 1131 |
-
"HP:0002014",
|
| 1132 |
-
"HP:0002149",
|
| 1133 |
-
"HP:0002153",
|
| 1134 |
-
"HP:0003043",
|
| 1135 |
-
"HP:0003138",
|
| 1136 |
-
"HP:0003149",
|
| 1137 |
-
"HP:0003165",
|
| 1138 |
-
"HP:0003259",
|
| 1139 |
-
"HP:0003281",
|
| 1140 |
-
"HP:0003493",
|
| 1141 |
-
"HP:0003565",
|
| 1142 |
-
"HP:0005339",
|
| 1143 |
-
"HP:0012185",
|
| 1144 |
-
"HP:0012213",
|
| 1145 |
-
"HP:0012513",
|
| 1146 |
-
"HP:0012514",
|
| 1147 |
-
"HP:0012611",
|
| 1148 |
-
"HP:0020181",
|
| 1149 |
-
"HP:0025020",
|
| 1150 |
-
"HP:0030833",
|
| 1151 |
-
"HP:0030834",
|
| 1152 |
-
"HP:0030873",
|
| 1153 |
-
"HP:0100529"
|
| 1154 |
-
],
|
| 1155 |
-
[
|
| 1156 |
-
"OMIM:181750",
|
| 1157 |
-
"ORPHA:90290"
|
| 1158 |
-
]
|
| 1159 |
-
],
|
| 1160 |
-
[
|
| 1161 |
-
[
|
| 1162 |
-
"HP:0000246",
|
| 1163 |
-
"HP:0000433",
|
| 1164 |
-
"HP:0000822",
|
| 1165 |
-
"HP:0000853",
|
| 1166 |
-
"HP:0001653",
|
| 1167 |
-
"HP:0001785",
|
| 1168 |
-
"HP:0001824",
|
| 1169 |
-
"HP:0001945",
|
| 1170 |
-
"HP:0002875",
|
| 1171 |
-
"HP:0003324",
|
| 1172 |
-
"HP:0003493",
|
| 1173 |
-
"HP:0003546",
|
| 1174 |
-
"HP:0004930",
|
| 1175 |
-
"HP:0010741",
|
| 1176 |
-
"HP:0011227",
|
| 1177 |
-
"HP:0012378",
|
| 1178 |
-
"HP:0012398",
|
| 1179 |
-
"HP:0012735",
|
| 1180 |
-
"HP:0025179",
|
| 1181 |
-
"HP:0030166",
|
| 1182 |
-
"HP:0030839",
|
| 1183 |
-
"HP:0030841",
|
| 1184 |
-
"HP:0031394",
|
| 1185 |
-
"HP:0100827"
|
| 1186 |
-
],
|
| 1187 |
-
[
|
| 1188 |
-
"ORPHA:81"
|
| 1189 |
-
]
|
| 1190 |
-
],
|
| 1191 |
-
[
|
| 1192 |
-
[
|
| 1193 |
-
"HP:0001025",
|
| 1194 |
-
"HP:0001369",
|
| 1195 |
-
"HP:0001945",
|
| 1196 |
-
"HP:0003115",
|
| 1197 |
-
"HP:0005115",
|
| 1198 |
-
"HP:0008619",
|
| 1199 |
-
"HP:0011227",
|
| 1200 |
-
"HP:0025269",
|
| 1201 |
-
"HP:0030839"
|
| 1202 |
-
],
|
| 1203 |
-
[
|
| 1204 |
-
"OMIM:120100",
|
| 1205 |
-
"OMIM:142680",
|
| 1206 |
-
"OMIM:191900",
|
| 1207 |
-
"OMIM:607115",
|
| 1208 |
-
"OMIM:611762",
|
| 1209 |
-
"OMIM:614468",
|
| 1210 |
-
"OMIM:616115",
|
| 1211 |
-
"ORPHA:1451",
|
| 1212 |
-
"ORPHA:32960",
|
| 1213 |
-
"ORPHA:47045",
|
| 1214 |
-
"ORPHA:575"
|
| 1215 |
-
]
|
| 1216 |
-
],
|
| 1217 |
-
[
|
| 1218 |
-
[
|
| 1219 |
-
"HP:0001063",
|
| 1220 |
-
"HP:0001780",
|
| 1221 |
-
"HP:0001945",
|
| 1222 |
-
"HP:0002240",
|
| 1223 |
-
"HP:0002625",
|
| 1224 |
-
"HP:0002633",
|
| 1225 |
-
"HP:0003419",
|
| 1226 |
-
"HP:0004326",
|
| 1227 |
-
"HP:0004420",
|
| 1228 |
-
"HP:0008940",
|
| 1229 |
-
"HP:0009098",
|
| 1230 |
-
"HP:0010287",
|
| 1231 |
-
"HP:0010783",
|
| 1232 |
-
"HP:0012378",
|
| 1233 |
-
"HP:0012398",
|
| 1234 |
-
"HP:0025203",
|
| 1235 |
-
"HP:0025238",
|
| 1236 |
-
"HP:0030242",
|
| 1237 |
-
"HP:0100758"
|
| 1238 |
-
],
|
| 1239 |
-
[
|
| 1240 |
-
"OMIM:211480",
|
| 1241 |
-
"OMIM:615688",
|
| 1242 |
-
"ORPHA:36258",
|
| 1243 |
-
"ORPHA:767"
|
| 1244 |
-
]
|
| 1245 |
-
],
|
| 1246 |
-
[
|
| 1247 |
-
[
|
| 1248 |
-
"HP:0000421",
|
| 1249 |
-
"HP:0001824",
|
| 1250 |
-
"HP:0002076",
|
| 1251 |
-
"HP:0002321",
|
| 1252 |
-
"HP:0002633",
|
| 1253 |
-
"HP:0003326",
|
| 1254 |
-
"HP:0003546",
|
| 1255 |
-
"HP:0003565",
|
| 1256 |
-
"HP:0030766",
|
| 1257 |
-
"HP:0030833",
|
| 1258 |
-
"HP:0100546"
|
| 1259 |
-
],
|
| 1260 |
-
[
|
| 1261 |
-
"OMIM:207600",
|
| 1262 |
-
"ORPHA:3287"
|
| 1263 |
-
]
|
| 1264 |
-
],
|
| 1265 |
-
[
|
| 1266 |
-
[
|
| 1267 |
-
"HP:0000083",
|
| 1268 |
-
"HP:0000155",
|
| 1269 |
-
"HP:0000366",
|
| 1270 |
-
"HP:0000377",
|
| 1271 |
-
"HP:0000766",
|
| 1272 |
-
"HP:0001041",
|
| 1273 |
-
"HP:0001635",
|
| 1274 |
-
"HP:0001649",
|
| 1275 |
-
"HP:0001659",
|
| 1276 |
-
"HP:0001962",
|
| 1277 |
-
"HP:0002149",
|
| 1278 |
-
"HP:0002202",
|
| 1279 |
-
"HP:0002716",
|
| 1280 |
-
"HP:0002907",
|
| 1281 |
-
"HP:0003149",
|
| 1282 |
-
"HP:0003326",
|
| 1283 |
-
"HP:0003418",
|
| 1284 |
-
"HP:0003546",
|
| 1285 |
-
"HP:0003565",
|
| 1286 |
-
"HP:0011227",
|
| 1287 |
-
"HP:0011713",
|
| 1288 |
-
"HP:0011911",
|
| 1289 |
-
"HP:0012317",
|
| 1290 |
-
"HP:0012378",
|
| 1291 |
-
"HP:0012611",
|
| 1292 |
-
"HP:0025238",
|
| 1293 |
-
"HP:0030835",
|
| 1294 |
-
"HP:0030840",
|
| 1295 |
-
"HP:0032154",
|
| 1296 |
-
"HP:0100686"
|
| 1297 |
-
],
|
| 1298 |
-
[
|
| 1299 |
-
"ORPHA:728"
|
| 1300 |
-
]
|
| 1301 |
-
],
|
| 1302 |
-
[
|
| 1303 |
-
[
|
| 1304 |
-
"HP:0001138",
|
| 1305 |
-
"HP:0002910",
|
| 1306 |
-
"HP:0003124",
|
| 1307 |
-
"HP:0003141",
|
| 1308 |
-
"HP:0007042",
|
| 1309 |
-
"HP:0007663",
|
| 1310 |
-
"HP:0012756",
|
| 1311 |
-
"HP:0025343",
|
| 1312 |
-
"HP:0030833",
|
| 1313 |
-
"HP:0030948",
|
| 1314 |
-
"HP:0200149"
|
| 1315 |
-
],
|
| 1316 |
-
[
|
| 1317 |
-
"OMIM:107320"
|
| 1318 |
-
]
|
| 1319 |
-
],
|
| 1320 |
-
[
|
| 1321 |
-
[
|
| 1322 |
-
"HP:0001824",
|
| 1323 |
-
"HP:0002829",
|
| 1324 |
-
"HP:0003259",
|
| 1325 |
-
"HP:0003493",
|
| 1326 |
-
"HP:0003546",
|
| 1327 |
-
"HP:0012378",
|
| 1328 |
-
"HP:0012452",
|
| 1329 |
-
"HP:0100643"
|
| 1330 |
-
],
|
| 1331 |
-
[
|
| 1332 |
-
"CCRD:112",
|
| 1333 |
-
"OMIM:181750",
|
| 1334 |
-
"ORPHA:220393",
|
| 1335 |
-
"ORPHA:220402",
|
| 1336 |
-
"ORPHA:90290",
|
| 1337 |
-
"ORPHA:90291"
|
| 1338 |
-
]
|
| 1339 |
-
],
|
| 1340 |
-
[
|
| 1341 |
-
[
|
| 1342 |
-
"HP:0000083",
|
| 1343 |
-
"HP:0000093",
|
| 1344 |
-
"HP:0000100",
|
| 1345 |
-
"HP:0000790",
|
| 1346 |
-
"HP:0000793",
|
| 1347 |
-
"HP:0000822",
|
| 1348 |
-
"HP:0000979",
|
| 1349 |
-
"HP:0001744",
|
| 1350 |
-
"HP:0001785",
|
| 1351 |
-
"HP:0001942",
|
| 1352 |
-
"HP:0002018",
|
| 1353 |
-
"HP:0002027",
|
| 1354 |
-
"HP:0002094",
|
| 1355 |
-
"HP:0002101",
|
| 1356 |
-
"HP:0002113",
|
| 1357 |
-
"HP:0002202",
|
| 1358 |
-
"HP:0002315",
|
| 1359 |
-
"HP:0003073",
|
| 1360 |
-
"HP:0003259",
|
| 1361 |
-
"HP:0003546",
|
| 1362 |
-
"HP:0004315",
|
| 1363 |
-
"HP:0004930",
|
| 1364 |
-
"HP:0005421",
|
| 1365 |
-
"HP:0008940",
|
| 1366 |
-
"HP:0011227",
|
| 1367 |
-
"HP:0025346",
|
| 1368 |
-
"HP:0030840",
|
| 1369 |
-
"HP:0031185",
|
| 1370 |
-
"HP:0032177",
|
| 1371 |
-
"HP:0045042",
|
| 1372 |
-
"HP:0100778"
|
| 1373 |
-
],
|
| 1374 |
-
[
|
| 1375 |
-
"OMIM:123550",
|
| 1376 |
-
"ORPHA:91138"
|
| 1377 |
-
]
|
| 1378 |
-
],
|
| 1379 |
-
[
|
| 1380 |
-
[
|
| 1381 |
-
"HP:0000388",
|
| 1382 |
-
"HP:0000961",
|
| 1383 |
-
"HP:0001698",
|
| 1384 |
-
"HP:0001780",
|
| 1385 |
-
"HP:0002202",
|
| 1386 |
-
"HP:0002829",
|
| 1387 |
-
"HP:0009830",
|
| 1388 |
-
"HP:0011025",
|
| 1389 |
-
"HP:0100758"
|
| 1390 |
-
],
|
| 1391 |
-
[
|
| 1392 |
-
"OMIM:608710",
|
| 1393 |
-
"ORPHA:900"
|
| 1394 |
-
]
|
| 1395 |
-
],
|
| 1396 |
-
[
|
| 1397 |
-
[
|
| 1398 |
-
"HP:0000821",
|
| 1399 |
-
"HP:0000989",
|
| 1400 |
-
"HP:0001081",
|
| 1401 |
-
"HP:0001575",
|
| 1402 |
-
"HP:0001644",
|
| 1403 |
-
"HP:0001662",
|
| 1404 |
-
"HP:0001735",
|
| 1405 |
-
"HP:0001824",
|
| 1406 |
-
"HP:0001972",
|
| 1407 |
-
"HP:0001974",
|
| 1408 |
-
"HP:0002018",
|
| 1409 |
-
"HP:0002371",
|
| 1410 |
-
"HP:0002546",
|
| 1411 |
-
"HP:0002633",
|
| 1412 |
-
"HP:0002870",
|
| 1413 |
-
"HP:0002925",
|
| 1414 |
-
"HP:0003115",
|
| 1415 |
-
"HP:0003165",
|
| 1416 |
-
"HP:0003493",
|
| 1417 |
-
"HP:0003565",
|
| 1418 |
-
"HP:0011227",
|
| 1419 |
-
"HP:0011709",
|
| 1420 |
-
"HP:0030948",
|
| 1421 |
-
"HP:0031588",
|
| 1422 |
-
"HP:0032210",
|
| 1423 |
-
"HP:0032229",
|
| 1424 |
-
"HP:0032300",
|
| 1425 |
-
"HP:0100546",
|
| 1426 |
-
"HP:0100646"
|
| 1427 |
-
],
|
| 1428 |
-
[
|
| 1429 |
-
"CCRD:56",
|
| 1430 |
-
"OMIM:228800",
|
| 1431 |
-
"ORPHA:49041"
|
| 1432 |
-
]
|
| 1433 |
-
],
|
| 1434 |
-
[
|
| 1435 |
-
[
|
| 1436 |
-
"HP:0001155",
|
| 1437 |
-
"HP:0001824",
|
| 1438 |
-
"HP:0002910",
|
| 1439 |
-
"HP:0002923",
|
| 1440 |
-
"HP:0003281",
|
| 1441 |
-
"HP:0003565",
|
| 1442 |
-
"HP:0005339",
|
| 1443 |
-
"HP:0005413",
|
| 1444 |
-
"HP:0006248",
|
| 1445 |
-
"HP:0011227",
|
| 1446 |
-
"HP:0012513",
|
| 1447 |
-
"HP:0012534",
|
| 1448 |
-
"HP:0030833",
|
| 1449 |
-
"HP:0100545",
|
| 1450 |
-
"HP:0100778",
|
| 1451 |
-
"HP:0200041"
|
| 1452 |
-
],
|
| 1453 |
-
[
|
| 1454 |
-
"OMIM:123550",
|
| 1455 |
-
"ORPHA:91138"
|
| 1456 |
-
]
|
| 1457 |
-
],
|
| 1458 |
-
[
|
| 1459 |
-
[
|
| 1460 |
-
"HP:0000967",
|
| 1461 |
-
"HP:0001873",
|
| 1462 |
-
"HP:0001974",
|
| 1463 |
-
"HP:0002315",
|
| 1464 |
-
"HP:0002633",
|
| 1465 |
-
"HP:0002910",
|
| 1466 |
-
"HP:0003262",
|
| 1467 |
-
"HP:0003493",
|
| 1468 |
-
"HP:0003565",
|
| 1469 |
-
"HP:0005421",
|
| 1470 |
-
"HP:0006562",
|
| 1471 |
-
"HP:0009830",
|
| 1472 |
-
"HP:0010741",
|
| 1473 |
-
"HP:0011227",
|
| 1474 |
-
"HP:0012378",
|
| 1475 |
-
"HP:0012514",
|
| 1476 |
-
"HP:0025238",
|
| 1477 |
-
"HP:0030167",
|
| 1478 |
-
"HP:0045042",
|
| 1479 |
-
"HP:0100643",
|
| 1480 |
-
"HP:0100778"
|
| 1481 |
-
],
|
| 1482 |
-
[
|
| 1483 |
-
"OMIM:123550",
|
| 1484 |
-
"ORPHA:91138"
|
| 1485 |
-
]
|
| 1486 |
-
],
|
| 1487 |
-
[
|
| 1488 |
-
[
|
| 1489 |
-
"HP:0000031",
|
| 1490 |
-
"HP:0000509",
|
| 1491 |
-
"HP:0001701",
|
| 1492 |
-
"HP:0001744",
|
| 1493 |
-
"HP:0001824",
|
| 1494 |
-
"HP:0001945",
|
| 1495 |
-
"HP:0001974",
|
| 1496 |
-
"HP:0002014",
|
| 1497 |
-
"HP:0002027",
|
| 1498 |
-
"HP:0002815",
|
| 1499 |
-
"HP:0003073",
|
| 1500 |
-
"HP:0003216",
|
| 1501 |
-
"HP:0003259",
|
| 1502 |
-
"HP:0003565",
|
| 1503 |
-
"HP:0010783",
|
| 1504 |
-
"HP:0011227",
|
| 1505 |
-
"HP:0011956",
|
| 1506 |
-
"HP:0012378",
|
| 1507 |
-
"HP:0012596",
|
| 1508 |
-
"HP:0012597",
|
| 1509 |
-
"HP:0030166",
|
| 1510 |
-
"HP:0030838",
|
| 1511 |
-
"HP:0100016",
|
| 1512 |
-
"HP:0100539"
|
| 1513 |
-
],
|
| 1514 |
-
[
|
| 1515 |
-
"OMIM:142680",
|
| 1516 |
-
"ORPHA:32960"
|
| 1517 |
-
]
|
| 1518 |
-
],
|
| 1519 |
-
[
|
| 1520 |
-
[
|
| 1521 |
-
"HP:0000138",
|
| 1522 |
-
"HP:0001397",
|
| 1523 |
-
"HP:0001744",
|
| 1524 |
-
"HP:0001945",
|
| 1525 |
-
"HP:0002829",
|
| 1526 |
-
"HP:0002875",
|
| 1527 |
-
"HP:0003326",
|
| 1528 |
-
"HP:0003546",
|
| 1529 |
-
"HP:0011227",
|
| 1530 |
-
"HP:0030166"
|
| 1531 |
-
],
|
| 1532 |
-
[
|
| 1533 |
-
"CCRD:28",
|
| 1534 |
-
"OMIM:134610",
|
| 1535 |
-
"OMIM:249100",
|
| 1536 |
-
"ORPHA:342"
|
| 1537 |
-
]
|
| 1538 |
-
],
|
| 1539 |
-
[
|
| 1540 |
-
[
|
| 1541 |
-
"HP:0000017",
|
| 1542 |
-
"HP:0000107",
|
| 1543 |
-
"HP:0000138",
|
| 1544 |
-
"HP:0000975",
|
| 1545 |
-
"HP:0001041",
|
| 1546 |
-
"HP:0001386",
|
| 1547 |
-
"HP:0001397",
|
| 1548 |
-
"HP:0001541",
|
| 1549 |
-
"HP:0001649",
|
| 1550 |
-
"HP:0001735",
|
| 1551 |
-
"HP:0001780",
|
| 1552 |
-
"HP:0002013",
|
| 1553 |
-
"HP:0002014",
|
| 1554 |
-
"HP:0002018",
|
| 1555 |
-
"HP:0002059",
|
| 1556 |
-
"HP:0002094",
|
| 1557 |
-
"HP:0002102",
|
| 1558 |
-
"HP:0002149",
|
| 1559 |
-
"HP:0002155",
|
| 1560 |
-
"HP:0002202",
|
| 1561 |
-
"HP:0002240",
|
| 1562 |
-
"HP:0002829",
|
| 1563 |
-
"HP:0002896",
|
| 1564 |
-
"HP:0002923",
|
| 1565 |
-
"HP:0003124",
|
| 1566 |
-
"HP:0003149",
|
| 1567 |
-
"HP:0003281",
|
| 1568 |
-
"HP:0003326",
|
| 1569 |
-
"HP:0003418",
|
| 1570 |
-
"HP:0003496",
|
| 1571 |
-
"HP:0003546",
|
| 1572 |
-
"HP:0003573",
|
| 1573 |
-
"HP:0005197",
|
| 1574 |
-
"HP:0005339",
|
| 1575 |
-
"HP:0006163",
|
| 1576 |
-
"HP:0009726",
|
| 1577 |
-
"HP:0009830",
|
| 1578 |
-
"HP:0011227",
|
| 1579 |
-
"HP:0012611",
|
| 1580 |
-
"HP:0025346",
|
| 1581 |
-
"HP:0030833",
|
| 1582 |
-
"HP:0030834",
|
| 1583 |
-
"HP:0030837",
|
| 1584 |
-
"HP:0030948",
|
| 1585 |
-
"HP:0031226",
|
| 1586 |
-
"HP:0031520",
|
| 1587 |
-
"HP:0032300",
|
| 1588 |
-
"HP:0100512",
|
| 1589 |
-
"HP:0100643",
|
| 1590 |
-
"HP:0100785",
|
| 1591 |
-
"HP:0410367"
|
| 1592 |
-
],
|
| 1593 |
-
[
|
| 1594 |
-
"ORPHA:81"
|
| 1595 |
-
]
|
| 1596 |
-
],
|
| 1597 |
-
[
|
| 1598 |
-
[
|
| 1599 |
-
"HP:0000093",
|
| 1600 |
-
"HP:0000245",
|
| 1601 |
-
"HP:0000377",
|
| 1602 |
-
"HP:0000433",
|
| 1603 |
-
"HP:0000790",
|
| 1604 |
-
"HP:0001063",
|
| 1605 |
-
"HP:0001785",
|
| 1606 |
-
"HP:0001903",
|
| 1607 |
-
"HP:0002910",
|
| 1608 |
-
"HP:0003259",
|
| 1609 |
-
"HP:0011227",
|
| 1610 |
-
"HP:0012213",
|
| 1611 |
-
"HP:0032230"
|
| 1612 |
-
],
|
| 1613 |
-
[
|
| 1614 |
-
"OMIM:608710",
|
| 1615 |
-
"ORPHA:900"
|
| 1616 |
-
]
|
| 1617 |
-
],
|
| 1618 |
-
[
|
| 1619 |
-
[
|
| 1620 |
-
"HP:0000155",
|
| 1621 |
-
"HP:0000217",
|
| 1622 |
-
"HP:0000360",
|
| 1623 |
-
"HP:0000365",
|
| 1624 |
-
"HP:0000520",
|
| 1625 |
-
"HP:0000572",
|
| 1626 |
-
"HP:0000633",
|
| 1627 |
-
"HP:0000651",
|
| 1628 |
-
"HP:0000787",
|
| 1629 |
-
"HP:0001167",
|
| 1630 |
-
"HP:0001269",
|
| 1631 |
-
"HP:0001288",
|
| 1632 |
-
"HP:0001369",
|
| 1633 |
-
"HP:0001653",
|
| 1634 |
-
"HP:0001947",
|
| 1635 |
-
"HP:0001974",
|
| 1636 |
-
"HP:0002076",
|
| 1637 |
-
"HP:0002321",
|
| 1638 |
-
"HP:0002829",
|
| 1639 |
-
"HP:0002875",
|
| 1640 |
-
"HP:0002925",
|
| 1641 |
-
"HP:0003474",
|
| 1642 |
-
"HP:0003537",
|
| 1643 |
-
"HP:0003546",
|
| 1644 |
-
"HP:0011935",
|
| 1645 |
-
"HP:0030833",
|
| 1646 |
-
"HP:0032154",
|
| 1647 |
-
"HP:0100512",
|
| 1648 |
-
"HP:0200037",
|
| 1649 |
-
"HP:0200039"
|
| 1650 |
-
],
|
| 1651 |
-
[
|
| 1652 |
-
"OMIM:106300",
|
| 1653 |
-
"OMIM:109650",
|
| 1654 |
-
"OMIM:183840",
|
| 1655 |
-
"ORPHA:117"
|
| 1656 |
-
]
|
| 1657 |
-
],
|
| 1658 |
-
[
|
| 1659 |
-
[
|
| 1660 |
-
"HP:0000246",
|
| 1661 |
-
"HP:0000822",
|
| 1662 |
-
"HP:0000958",
|
| 1663 |
-
"HP:0000980",
|
| 1664 |
-
"HP:0001894",
|
| 1665 |
-
"HP:0001903",
|
| 1666 |
-
"HP:0001920",
|
| 1667 |
-
"HP:0001945",
|
| 1668 |
-
"HP:0001974",
|
| 1669 |
-
"HP:0002013",
|
| 1670 |
-
"HP:0002027",
|
| 1671 |
-
"HP:0002094",
|
| 1672 |
-
"HP:0002754",
|
| 1673 |
-
"HP:0002910",
|
| 1674 |
-
"HP:0003138",
|
| 1675 |
-
"HP:0003237",
|
| 1676 |
-
"HP:0003259",
|
| 1677 |
-
"HP:0003418",
|
| 1678 |
-
"HP:0003493",
|
| 1679 |
-
"HP:0003546",
|
| 1680 |
-
"HP:0003565",
|
| 1681 |
-
"HP:0004396",
|
| 1682 |
-
"HP:0011097",
|
| 1683 |
-
"HP:0011227",
|
| 1684 |
-
"HP:0030157",
|
| 1685 |
-
"HP:0030948",
|
| 1686 |
-
"HP:0031030",
|
| 1687 |
-
"HP:0032483",
|
| 1688 |
-
"HP:0100016",
|
| 1689 |
-
"HP:0200034",
|
| 1690 |
-
"HP:0410019"
|
| 1691 |
-
],
|
| 1692 |
-
[
|
| 1693 |
-
"OMIM:207600",
|
| 1694 |
-
"ORPHA:3287"
|
| 1695 |
-
]
|
| 1696 |
-
],
|
| 1697 |
-
[
|
| 1698 |
-
[
|
| 1699 |
-
"HP:0001397",
|
| 1700 |
-
"HP:0002385",
|
| 1701 |
-
"HP:0002817",
|
| 1702 |
-
"HP:0002910",
|
| 1703 |
-
"HP:0003115",
|
| 1704 |
-
"HP:0003236",
|
| 1705 |
-
"HP:0003259",
|
| 1706 |
-
"HP:0003326",
|
| 1707 |
-
"HP:0003493",
|
| 1708 |
-
"HP:0005110",
|
| 1709 |
-
"HP:0005145",
|
| 1710 |
-
"HP:0008978",
|
| 1711 |
-
"HP:0011713",
|
| 1712 |
-
"HP:0012213",
|
| 1713 |
-
"HP:0012596",
|
| 1714 |
-
"HP:0012597",
|
| 1715 |
-
"HP:0030167",
|
| 1716 |
-
"HP:0030948",
|
| 1717 |
-
"HP:0031185",
|
| 1718 |
-
"HP:0100545"
|
| 1719 |
-
],
|
| 1720 |
-
[
|
| 1721 |
-
"ORPHA:171",
|
| 1722 |
-
"ORPHA:732"
|
| 1723 |
-
]
|
| 1724 |
-
],
|
| 1725 |
-
[
|
| 1726 |
-
[
|
| 1727 |
-
"HP:0000364",
|
| 1728 |
-
"HP:0000572",
|
| 1729 |
-
"HP:0000822",
|
| 1730 |
-
"HP:0000975",
|
| 1731 |
-
"HP:0001288",
|
| 1732 |
-
"HP:0001397",
|
| 1733 |
-
"HP:0001575",
|
| 1734 |
-
"HP:0001659",
|
| 1735 |
-
"HP:0001744",
|
| 1736 |
-
"HP:0002014",
|
| 1737 |
-
"HP:0002018",
|
| 1738 |
-
"HP:0002019",
|
| 1739 |
-
"HP:0002046",
|
| 1740 |
-
"HP:0002242",
|
| 1741 |
-
"HP:0002315",
|
| 1742 |
-
"HP:0002321",
|
| 1743 |
-
"HP:0002814",
|
| 1744 |
-
"HP:0002829",
|
| 1745 |
-
"HP:0002875",
|
| 1746 |
-
"HP:0002910",
|
| 1747 |
-
"HP:0003115",
|
| 1748 |
-
"HP:0003141",
|
| 1749 |
-
"HP:0003236",
|
| 1750 |
-
"HP:0003270",
|
| 1751 |
-
"HP:0003281",
|
| 1752 |
-
"HP:0003418",
|
| 1753 |
-
"HP:0003474",
|
| 1754 |
-
"HP:0003546",
|
| 1755 |
-
"HP:0004386",
|
| 1756 |
-
"HP:0004756",
|
| 1757 |
-
"HP:0005263",
|
| 1758 |
-
"HP:0006682",
|
| 1759 |
-
"HP:0011227",
|
| 1760 |
-
"HP:0011712",
|
| 1761 |
-
"HP:0011911",
|
| 1762 |
-
"HP:0012185",
|
| 1763 |
-
"HP:0012317",
|
| 1764 |
-
"HP:0012513",
|
| 1765 |
-
"HP:0012514",
|
| 1766 |
-
"HP:0012534",
|
| 1767 |
-
"HP:0025269",
|
| 1768 |
-
"HP:0030833",
|
| 1769 |
-
"HP:0030838",
|
| 1770 |
-
"HP:0031520",
|
| 1771 |
-
"HP:0031588",
|
| 1772 |
-
"HP:0100512",
|
| 1773 |
-
"HP:0100749",
|
| 1774 |
-
"HP:0100785"
|
| 1775 |
-
],
|
| 1776 |
-
[
|
| 1777 |
-
"OMIM:106300",
|
| 1778 |
-
"OMIM:183840"
|
| 1779 |
-
]
|
| 1780 |
-
],
|
| 1781 |
-
[
|
| 1782 |
-
[
|
| 1783 |
-
"HP:0000853",
|
| 1784 |
-
"HP:0001081",
|
| 1785 |
-
"HP:0001369",
|
| 1786 |
-
"HP:0001600",
|
| 1787 |
-
"HP:0001679",
|
| 1788 |
-
"HP:0001894",
|
| 1789 |
-
"HP:0001903",
|
| 1790 |
-
"HP:0001945",
|
| 1791 |
-
"HP:0001974",
|
| 1792 |
-
"HP:0002240",
|
| 1793 |
-
"HP:0002242",
|
| 1794 |
-
"HP:0002829",
|
| 1795 |
-
"HP:0002910",
|
| 1796 |
-
"HP:0003072",
|
| 1797 |
-
"HP:0003155",
|
| 1798 |
-
"HP:0003326",
|
| 1799 |
-
"HP:0003546",
|
| 1800 |
-
"HP:0005413",
|
| 1801 |
-
"HP:0011227",
|
| 1802 |
-
"HP:0025022",
|
| 1803 |
-
"HP:0025289",
|
| 1804 |
-
"HP:0030166",
|
| 1805 |
-
"HP:0030839",
|
| 1806 |
-
"HP:0030948"
|
| 1807 |
-
],
|
| 1808 |
-
[
|
| 1809 |
-
"OMIM:120100",
|
| 1810 |
-
"OMIM:191900",
|
| 1811 |
-
"OMIM:607115",
|
| 1812 |
-
"OMIM:611762",
|
| 1813 |
-
"OMIM:614468",
|
| 1814 |
-
"OMIM:616115",
|
| 1815 |
-
"ORPHA:1451",
|
| 1816 |
-
"ORPHA:47045",
|
| 1817 |
-
"ORPHA:575"
|
| 1818 |
-
]
|
| 1819 |
-
],
|
| 1820 |
-
[
|
| 1821 |
-
[
|
| 1822 |
-
"HP:0000083",
|
| 1823 |
-
"HP:0000089",
|
| 1824 |
-
"HP:0000097",
|
| 1825 |
-
"HP:0000821",
|
| 1826 |
-
"HP:0001903",
|
| 1827 |
-
"HP:0002014",
|
| 1828 |
-
"HP:0002153",
|
| 1829 |
-
"HP:0003073",
|
| 1830 |
-
"HP:0003138",
|
| 1831 |
-
"HP:0003165",
|
| 1832 |
-
"HP:0003259",
|
| 1833 |
-
"HP:0012213",
|
| 1834 |
-
"HP:0012595",
|
| 1835 |
-
"HP:0100512",
|
| 1836 |
-
"HP:0200034"
|
| 1837 |
-
],
|
| 1838 |
-
[
|
| 1839 |
-
"CCRD:27",
|
| 1840 |
-
"OMIM:301500",
|
| 1841 |
-
"ORPHA:324"
|
| 1842 |
-
]
|
| 1843 |
-
],
|
| 1844 |
-
[
|
| 1845 |
-
[
|
| 1846 |
-
"HP:0000736",
|
| 1847 |
-
"HP:0001873",
|
| 1848 |
-
"HP:0001981",
|
| 1849 |
-
"HP:0002172",
|
| 1850 |
-
"HP:0002321",
|
| 1851 |
-
"HP:0002910",
|
| 1852 |
-
"HP:0003138",
|
| 1853 |
-
"HP:0003259",
|
| 1854 |
-
"HP:0003546",
|
| 1855 |
-
"HP:0007185",
|
| 1856 |
-
"HP:0008330",
|
| 1857 |
-
"HP:0012213",
|
| 1858 |
-
"HP:0020181",
|
| 1859 |
-
"HP:0025435",
|
| 1860 |
-
"HP:0032308",
|
| 1861 |
-
"HP:0100661"
|
| 1862 |
-
],
|
| 1863 |
-
[
|
| 1864 |
-
"OMIM:274150",
|
| 1865 |
-
"ORPHA:54057"
|
| 1866 |
-
]
|
| 1867 |
-
],
|
| 1868 |
-
[
|
| 1869 |
-
[
|
| 1870 |
-
"HP:0000869",
|
| 1871 |
-
"HP:0001629",
|
| 1872 |
-
"HP:0001659",
|
| 1873 |
-
"HP:0001744",
|
| 1874 |
-
"HP:0001824",
|
| 1875 |
-
"HP:0001894",
|
| 1876 |
-
"HP:0001935",
|
| 1877 |
-
"HP:0001945",
|
| 1878 |
-
"HP:0001970",
|
| 1879 |
-
"HP:0002094",
|
| 1880 |
-
"HP:0002829",
|
| 1881 |
-
"HP:0003138",
|
| 1882 |
-
"HP:0003546",
|
| 1883 |
-
"HP:0003565",
|
| 1884 |
-
"HP:0005259",
|
| 1885 |
-
"HP:0011712",
|
| 1886 |
-
"HP:0012122",
|
| 1887 |
-
"HP:0012213",
|
| 1888 |
-
"HP:0012513",
|
| 1889 |
-
"HP:0012595",
|
| 1890 |
-
"HP:0012735",
|
| 1891 |
-
"HP:0030157",
|
| 1892 |
-
"HP:0030833",
|
| 1893 |
-
"HP:0031664",
|
| 1894 |
-
"HP:0100515",
|
| 1895 |
-
"HP:0100584"
|
| 1896 |
-
],
|
| 1897 |
-
[
|
| 1898 |
-
"OMIM:607665"
|
| 1899 |
-
]
|
| 1900 |
-
],
|
| 1901 |
-
[
|
| 1902 |
-
[
|
| 1903 |
-
"HP:0000545",
|
| 1904 |
-
"HP:0000651",
|
| 1905 |
-
"HP:0000958",
|
| 1906 |
-
"HP:0001155",
|
| 1907 |
-
"HP:0001265",
|
| 1908 |
-
"HP:0001760",
|
| 1909 |
-
"HP:0001875",
|
| 1910 |
-
"HP:0002570",
|
| 1911 |
-
"HP:0002781",
|
| 1912 |
-
"HP:0002829",
|
| 1913 |
-
"HP:0002883",
|
| 1914 |
-
"HP:0003236",
|
| 1915 |
-
"HP:0006536",
|
| 1916 |
-
"HP:0007210",
|
| 1917 |
-
"HP:0012513",
|
| 1918 |
-
"HP:0012534",
|
| 1919 |
-
"HP:0025238",
|
| 1920 |
-
"HP:0040126",
|
| 1921 |
-
"HP:0100827",
|
| 1922 |
-
"HP:0410281"
|
| 1923 |
-
],
|
| 1924 |
-
[
|
| 1925 |
-
"OMIM:133020",
|
| 1926 |
-
"ORPHA:90026"
|
| 1927 |
-
]
|
| 1928 |
-
],
|
| 1929 |
-
[
|
| 1930 |
-
[
|
| 1931 |
-
"HP:0000093",
|
| 1932 |
-
"HP:0000142",
|
| 1933 |
-
"HP:0000164",
|
| 1934 |
-
"HP:0000246",
|
| 1935 |
-
"HP:0000433",
|
| 1936 |
-
"HP:0000713",
|
| 1937 |
-
"HP:0000822",
|
| 1938 |
-
"HP:0001041",
|
| 1939 |
-
"HP:0001288",
|
| 1940 |
-
"HP:0001384",
|
| 1941 |
-
"HP:0001596",
|
| 1942 |
-
"HP:0001600",
|
| 1943 |
-
"HP:0001785",
|
| 1944 |
-
"HP:0001945",
|
| 1945 |
-
"HP:0001959",
|
| 1946 |
-
"HP:0001962",
|
| 1947 |
-
"HP:0002019",
|
| 1948 |
-
"HP:0002020",
|
| 1949 |
-
"HP:0002027",
|
| 1950 |
-
"HP:0002315",
|
| 1951 |
-
"HP:0002321",
|
| 1952 |
-
"HP:0002829",
|
| 1953 |
-
"HP:0002875",
|
| 1954 |
-
"HP:0002923",
|
| 1955 |
-
"HP:0003419",
|
| 1956 |
-
"HP:0003474",
|
| 1957 |
-
"HP:0003493",
|
| 1958 |
-
"HP:0005197",
|
| 1959 |
-
"HP:0006253",
|
| 1960 |
-
"HP:0006256",
|
| 1961 |
-
"HP:0007042",
|
| 1962 |
-
"HP:0010741",
|
| 1963 |
-
"HP:0011911",
|
| 1964 |
-
"HP:0012085",
|
| 1965 |
-
"HP:0012213",
|
| 1966 |
-
"HP:0012219",
|
| 1967 |
-
"HP:0012378",
|
| 1968 |
-
"HP:0012479",
|
| 1969 |
-
"HP:0012514",
|
| 1970 |
-
"HP:0012534",
|
| 1971 |
-
"HP:0030157",
|
| 1972 |
-
"HP:0030166",
|
| 1973 |
-
"HP:0030269",
|
| 1974 |
-
"HP:0030837",
|
| 1975 |
-
"HP:0030838",
|
| 1976 |
-
"HP:0030899",
|
| 1977 |
-
"HP:0031284",
|
| 1978 |
-
"HP:0031352",
|
| 1979 |
-
"HP:0031520",
|
| 1980 |
-
"HP:0040264",
|
| 1981 |
-
"HP:0100515",
|
| 1982 |
-
"HP:0100540",
|
| 1983 |
-
"HP:0100749",
|
| 1984 |
-
"HP:0410019"
|
| 1985 |
-
],
|
| 1986 |
-
[
|
| 1987 |
-
"CCRD:112",
|
| 1988 |
-
"OMIM:181750",
|
| 1989 |
-
"ORPHA:220393",
|
| 1990 |
-
"ORPHA:220402",
|
| 1991 |
-
"ORPHA:732",
|
| 1992 |
-
"ORPHA:801",
|
| 1993 |
-
"ORPHA:90289",
|
| 1994 |
-
"ORPHA:90290",
|
| 1995 |
-
"ORPHA:90291"
|
| 1996 |
-
]
|
| 1997 |
-
],
|
| 1998 |
-
[
|
| 1999 |
-
[
|
| 2000 |
-
"HP:0000217",
|
| 2001 |
-
"HP:0000505",
|
| 2002 |
-
"HP:0001824",
|
| 2003 |
-
"HP:0001945",
|
| 2004 |
-
"HP:0002907",
|
| 2005 |
-
"HP:0002910",
|
| 2006 |
-
"HP:0003418",
|
| 2007 |
-
"HP:0003546",
|
| 2008 |
-
"HP:0003565",
|
| 2009 |
-
"HP:0004396",
|
| 2010 |
-
"HP:0010783",
|
| 2011 |
-
"HP:0011227",
|
| 2012 |
-
"HP:0011801",
|
| 2013 |
-
"HP:0012122",
|
| 2014 |
-
"HP:0012577",
|
| 2015 |
-
"HP:0012595",
|
| 2016 |
-
"HP:0025289",
|
| 2017 |
-
"HP:0030166",
|
| 2018 |
-
"HP:0200026"
|
| 2019 |
-
],
|
| 2020 |
-
[
|
| 2021 |
-
"OMIM:181000",
|
| 2022 |
-
"OMIM:612387",
|
| 2023 |
-
"ORPHA:797"
|
| 2024 |
-
]
|
| 2025 |
-
],
|
| 2026 |
-
[
|
| 2027 |
-
[
|
| 2028 |
-
"HP:0000155",
|
| 2029 |
-
"HP:0002315",
|
| 2030 |
-
"HP:0002354",
|
| 2031 |
-
"HP:0002754",
|
| 2032 |
-
"HP:0002758",
|
| 2033 |
-
"HP:0002808",
|
| 2034 |
-
"HP:0002870",
|
| 2035 |
-
"HP:0003028",
|
| 2036 |
-
"HP:0003418",
|
| 2037 |
-
"HP:0008419",
|
| 2038 |
-
"HP:0030840",
|
| 2039 |
-
"HP:0032154",
|
| 2040 |
-
"HP:0200039"
|
| 2041 |
-
],
|
| 2042 |
-
[
|
| 2043 |
-
"ORPHA:793"
|
| 2044 |
-
]
|
| 2045 |
-
],
|
| 2046 |
-
[
|
| 2047 |
-
[
|
| 2048 |
-
"HP:0000098",
|
| 2049 |
-
"HP:0000107",
|
| 2050 |
-
"HP:0000138",
|
| 2051 |
-
"HP:0000501",
|
| 2052 |
-
"HP:0000545",
|
| 2053 |
-
"HP:0001167",
|
| 2054 |
-
"HP:0001761",
|
| 2055 |
-
"HP:0001824",
|
| 2056 |
-
"HP:0002615",
|
| 2057 |
-
"HP:0002619",
|
| 2058 |
-
"HP:0002763",
|
| 2059 |
-
"HP:0002829",
|
| 2060 |
-
"HP:0002857",
|
| 2061 |
-
"HP:0002875",
|
| 2062 |
-
"HP:0002907",
|
| 2063 |
-
"HP:0004386",
|
| 2064 |
-
"HP:0005086",
|
| 2065 |
-
"HP:0005108",
|
| 2066 |
-
"HP:0005263",
|
| 2067 |
-
"HP:0007663",
|
| 2068 |
-
"HP:0010741",
|
| 2069 |
-
"HP:0030835",
|
| 2070 |
-
"HP:0030838",
|
| 2071 |
-
"HP:0030839",
|
| 2072 |
-
"HP:0031520",
|
| 2073 |
-
"HP:0032191"
|
| 2074 |
-
],
|
| 2075 |
-
[
|
| 2076 |
-
"OMIM:108300",
|
| 2077 |
-
"OMIM:184840",
|
| 2078 |
-
"OMIM:604841",
|
| 2079 |
-
"OMIM:614134",
|
| 2080 |
-
"OMIM:614284",
|
| 2081 |
-
"ORPHA:166100",
|
| 2082 |
-
"ORPHA:250984",
|
| 2083 |
-
"ORPHA:828",
|
| 2084 |
-
"ORPHA:90653",
|
| 2085 |
-
"ORPHA:90654"
|
| 2086 |
-
]
|
| 2087 |
-
],
|
| 2088 |
-
[
|
| 2089 |
-
[
|
| 2090 |
-
"HP:0000083",
|
| 2091 |
-
"HP:0000100",
|
| 2092 |
-
"HP:0001698",
|
| 2093 |
-
"HP:0001701",
|
| 2094 |
-
"HP:0001903",
|
| 2095 |
-
"HP:0003259",
|
| 2096 |
-
"HP:0003493",
|
| 2097 |
-
"HP:0003546",
|
| 2098 |
-
"HP:0004431",
|
| 2099 |
-
"HP:0012378",
|
| 2100 |
-
"HP:0012596",
|
| 2101 |
-
"HP:0012597"
|
| 2102 |
-
],
|
| 2103 |
-
[
|
| 2104 |
-
"OMIM:152700",
|
| 2105 |
-
"OMIM:606579",
|
| 2106 |
-
"OMIM:609939",
|
| 2107 |
-
"OMIM:614420",
|
| 2108 |
-
"ORPHA:93552"
|
| 2109 |
-
]
|
| 2110 |
-
],
|
| 2111 |
-
[
|
| 2112 |
-
[
|
| 2113 |
-
"HP:0000142",
|
| 2114 |
-
"HP:0000155",
|
| 2115 |
-
"HP:0000217",
|
| 2116 |
-
"HP:0001097",
|
| 2117 |
-
"HP:0001167",
|
| 2118 |
-
"HP:0002014",
|
| 2119 |
-
"HP:0002027",
|
| 2120 |
-
"HP:0002240",
|
| 2121 |
-
"HP:0002315",
|
| 2122 |
-
"HP:0002814",
|
| 2123 |
-
"HP:0002829",
|
| 2124 |
-
"HP:0002896",
|
| 2125 |
-
"HP:0003124",
|
| 2126 |
-
"HP:0003282",
|
| 2127 |
-
"HP:0003474",
|
| 2128 |
-
"HP:0003546",
|
| 2129 |
-
"HP:0004326",
|
| 2130 |
-
"HP:0005263",
|
| 2131 |
-
"HP:0007042",
|
| 2132 |
-
"HP:0010784",
|
| 2133 |
-
"HP:0010876",
|
| 2134 |
-
"HP:0012514",
|
| 2135 |
-
"HP:0012534",
|
| 2136 |
-
"HP:0030057",
|
| 2137 |
-
"HP:0030140",
|
| 2138 |
-
"HP:0030166",
|
| 2139 |
-
"HP:0032483",
|
| 2140 |
-
"HP:0100633",
|
| 2141 |
-
"HP:0100643"
|
| 2142 |
-
],
|
| 2143 |
-
[
|
| 2144 |
-
"OMIM:270150"
|
| 2145 |
-
]
|
| 2146 |
-
],
|
| 2147 |
-
[
|
| 2148 |
-
[
|
| 2149 |
-
"HP:0000821",
|
| 2150 |
-
"HP:0001744",
|
| 2151 |
-
"HP:0001888",
|
| 2152 |
-
"HP:0001935",
|
| 2153 |
-
"HP:0001945",
|
| 2154 |
-
"HP:0002018",
|
| 2155 |
-
"HP:0002094",
|
| 2156 |
-
"HP:0002102",
|
| 2157 |
-
"HP:0002202",
|
| 2158 |
-
"HP:0002901",
|
| 2159 |
-
"HP:0004396",
|
| 2160 |
-
"HP:0010931",
|
| 2161 |
-
"HP:0011227",
|
| 2162 |
-
"HP:0011703",
|
| 2163 |
-
"HP:0012378",
|
| 2164 |
-
"HP:0025143",
|
| 2165 |
-
"HP:0025435",
|
| 2166 |
-
"HP:0030160",
|
| 2167 |
-
"HP:0100749"
|
| 2168 |
-
],
|
| 2169 |
-
[
|
| 2170 |
-
"CCRD:28",
|
| 2171 |
-
"OMIM:134610",
|
| 2172 |
-
"OMIM:249100",
|
| 2173 |
-
"ORPHA:342"
|
| 2174 |
-
]
|
| 2175 |
-
],
|
| 2176 |
-
[
|
| 2177 |
-
[
|
| 2178 |
-
"HP:0000365",
|
| 2179 |
-
"HP:0001288",
|
| 2180 |
-
"HP:0001397",
|
| 2181 |
-
"HP:0001407",
|
| 2182 |
-
"HP:0001698",
|
| 2183 |
-
"HP:0001744",
|
| 2184 |
-
"HP:0002088",
|
| 2185 |
-
"HP:0002240",
|
| 2186 |
-
"HP:0002385",
|
| 2187 |
-
"HP:0003474",
|
| 2188 |
-
"HP:0012384",
|
| 2189 |
-
"HP:0012514",
|
| 2190 |
-
"HP:0030423",
|
| 2191 |
-
"HP:0032230",
|
| 2192 |
-
"HP:0100785"
|
| 2193 |
-
],
|
| 2194 |
-
[
|
| 2195 |
-
"OMIM:608710",
|
| 2196 |
-
"ORPHA:900"
|
| 2197 |
-
]
|
| 2198 |
-
],
|
| 2199 |
-
[
|
| 2200 |
-
[
|
| 2201 |
-
"HP:0000107",
|
| 2202 |
-
"HP:0000121",
|
| 2203 |
-
"HP:0001288",
|
| 2204 |
-
"HP:0001369",
|
| 2205 |
-
"HP:0001744",
|
| 2206 |
-
"HP:0001875",
|
| 2207 |
-
"HP:0001882",
|
| 2208 |
-
"HP:0001913",
|
| 2209 |
-
"HP:0001935",
|
| 2210 |
-
"HP:0002148",
|
| 2211 |
-
"HP:0002240",
|
| 2212 |
-
"HP:0002315",
|
| 2213 |
-
"HP:0002321",
|
| 2214 |
-
"HP:0002716",
|
| 2215 |
-
"HP:0002814",
|
| 2216 |
-
"HP:0002875",
|
| 2217 |
-
"HP:0003418",
|
| 2218 |
-
"HP:0003546",
|
| 2219 |
-
"HP:0003565",
|
| 2220 |
-
"HP:0004418",
|
| 2221 |
-
"HP:0005108",
|
| 2222 |
-
"HP:0005268",
|
| 2223 |
-
"HP:0006256",
|
| 2224 |
-
"HP:0006261",
|
| 2225 |
-
"HP:0007210",
|
| 2226 |
-
"HP:0010287",
|
| 2227 |
-
"HP:0012513",
|
| 2228 |
-
"HP:0012514",
|
| 2229 |
-
"HP:0012534",
|
| 2230 |
-
"HP:0025238",
|
| 2231 |
-
"HP:0030833",
|
| 2232 |
-
"HP:0030836",
|
| 2233 |
-
"HP:0030837",
|
| 2234 |
-
"HP:0030838",
|
| 2235 |
-
"HP:0030839",
|
| 2236 |
-
"HP:0030840"
|
| 2237 |
-
],
|
| 2238 |
-
[
|
| 2239 |
-
"OMIM:134750",
|
| 2240 |
-
"ORPHA:47612"
|
| 2241 |
-
]
|
| 2242 |
-
],
|
| 2243 |
-
[
|
| 2244 |
-
[
|
| 2245 |
-
"HP:0000365",
|
| 2246 |
-
"HP:0000822",
|
| 2247 |
-
"HP:0002105",
|
| 2248 |
-
"HP:0002315",
|
| 2249 |
-
"HP:0002829",
|
| 2250 |
-
"HP:0012384",
|
| 2251 |
-
"HP:0030836",
|
| 2252 |
-
"HP:0030839",
|
| 2253 |
-
"HP:0030840"
|
| 2254 |
-
],
|
| 2255 |
-
[
|
| 2256 |
-
"OMIM:608710",
|
| 2257 |
-
"ORPHA:900"
|
| 2258 |
-
]
|
| 2259 |
-
],
|
| 2260 |
-
[
|
| 2261 |
-
[
|
| 2262 |
-
"HP:0000083",
|
| 2263 |
-
"HP:0000366",
|
| 2264 |
-
"HP:0000377",
|
| 2265 |
-
"HP:0000572",
|
| 2266 |
-
"HP:0000938",
|
| 2267 |
-
"HP:0001041",
|
| 2268 |
-
"HP:0001167",
|
| 2269 |
-
"HP:0001225",
|
| 2270 |
-
"HP:0001780",
|
| 2271 |
-
"HP:0001880",
|
| 2272 |
-
"HP:0001935",
|
| 2273 |
-
"HP:0003546",
|
| 2274 |
-
"HP:0009129",
|
| 2275 |
-
"HP:0010741",
|
| 2276 |
-
"HP:0011911",
|
| 2277 |
-
"HP:0025238",
|
| 2278 |
-
"HP:0030834",
|
| 2279 |
-
"HP:0100534",
|
| 2280 |
-
"HP:0100758"
|
| 2281 |
-
],
|
| 2282 |
-
[
|
| 2283 |
-
"ORPHA:728"
|
| 2284 |
-
]
|
| 2285 |
-
],
|
| 2286 |
-
[
|
| 2287 |
-
[
|
| 2288 |
-
"HP:0000766",
|
| 2289 |
-
"HP:0001974",
|
| 2290 |
-
"HP:0002094",
|
| 2291 |
-
"HP:0002754",
|
| 2292 |
-
"HP:0002758",
|
| 2293 |
-
"HP:0003565",
|
| 2294 |
-
"HP:0011227",
|
| 2295 |
-
"HP:0100749",
|
| 2296 |
-
"HP:0100774"
|
| 2297 |
-
],
|
| 2298 |
-
[
|
| 2299 |
-
"ORPHA:793"
|
| 2300 |
-
]
|
| 2301 |
-
],
|
| 2302 |
-
[
|
| 2303 |
-
[
|
| 2304 |
-
"HP:0000223",
|
| 2305 |
-
"HP:0000793",
|
| 2306 |
-
"HP:0000967",
|
| 2307 |
-
"HP:0002315",
|
| 2308 |
-
"HP:0012378"
|
| 2309 |
-
],
|
| 2310 |
-
[
|
| 2311 |
-
"ORPHA:761"
|
| 2312 |
-
]
|
| 2313 |
-
],
|
| 2314 |
-
[
|
| 2315 |
-
[
|
| 2316 |
-
"HP:0000217",
|
| 2317 |
-
"HP:0000858",
|
| 2318 |
-
"HP:0001097",
|
| 2319 |
-
"HP:0001882",
|
| 2320 |
-
"HP:0002014",
|
| 2321 |
-
"HP:0020181",
|
| 2322 |
-
"HP:0030057"
|
| 2323 |
-
],
|
| 2324 |
-
[
|
| 2325 |
-
"OMIM:152700",
|
| 2326 |
-
"OMIM:270150",
|
| 2327 |
-
"OMIM:606579",
|
| 2328 |
-
"OMIM:609939",
|
| 2329 |
-
"OMIM:614420",
|
| 2330 |
-
"ORPHA:93552"
|
| 2331 |
-
]
|
| 2332 |
-
],
|
| 2333 |
-
[
|
| 2334 |
-
[
|
| 2335 |
-
"HP:0000246",
|
| 2336 |
-
"HP:0001880",
|
| 2337 |
-
"HP:0002094",
|
| 2338 |
-
"HP:0002113",
|
| 2339 |
-
"HP:0002583",
|
| 2340 |
-
"HP:0002910",
|
| 2341 |
-
"HP:0003212",
|
| 2342 |
-
"HP:0003236",
|
| 2343 |
-
"HP:0009098",
|
| 2344 |
-
"HP:0011227",
|
| 2345 |
-
"HP:0011897",
|
| 2346 |
-
"HP:0012213",
|
| 2347 |
-
"HP:0012387",
|
| 2348 |
-
"HP:0025066",
|
| 2349 |
-
"HP:0025392",
|
| 2350 |
-
"HP:0030057",
|
| 2351 |
-
"HP:0030877",
|
| 2352 |
-
"HP:0032300",
|
| 2353 |
-
"HP:0100512",
|
| 2354 |
-
"HP:0100582"
|
| 2355 |
-
],
|
| 2356 |
-
[
|
| 2357 |
-
"ORPHA:183"
|
| 2358 |
-
]
|
| 2359 |
-
],
|
| 2360 |
-
[
|
| 2361 |
-
[
|
| 2362 |
-
"HP:0002633",
|
| 2363 |
-
"HP:0003565",
|
| 2364 |
-
"HP:0011227",
|
| 2365 |
-
"HP:0012273",
|
| 2366 |
-
"HP:0012378",
|
| 2367 |
-
"HP:0025289",
|
| 2368 |
-
"HP:0030833"
|
| 2369 |
-
],
|
| 2370 |
-
[
|
| 2371 |
-
"OMIM:207600",
|
| 2372 |
-
"ORPHA:3287"
|
| 2373 |
-
]
|
| 2374 |
-
],
|
| 2375 |
-
[
|
| 2376 |
-
[
|
| 2377 |
-
"HP:0000953",
|
| 2378 |
-
"HP:0001894",
|
| 2379 |
-
"HP:0001897",
|
| 2380 |
-
"HP:0001945",
|
| 2381 |
-
"HP:0002659",
|
| 2382 |
-
"HP:0002910",
|
| 2383 |
-
"HP:0003155",
|
| 2384 |
-
"HP:0003261",
|
| 2385 |
-
"HP:0003326",
|
| 2386 |
-
"HP:0003565",
|
| 2387 |
-
"HP:0005180",
|
| 2388 |
-
"HP:0011120",
|
| 2389 |
-
"HP:0011227",
|
| 2390 |
-
"HP:0012735",
|
| 2391 |
-
"HP:0025392",
|
| 2392 |
-
"HP:0025547",
|
| 2393 |
-
"HP:0030313",
|
| 2394 |
-
"HP:0030840",
|
| 2395 |
-
"HP:0030948",
|
| 2396 |
-
"HP:0032230",
|
| 2397 |
-
"HP:0100827"
|
| 2398 |
-
],
|
| 2399 |
-
[
|
| 2400 |
-
"OMIM:608710",
|
| 2401 |
-
"ORPHA:900"
|
| 2402 |
-
]
|
| 2403 |
-
],
|
| 2404 |
-
[
|
| 2405 |
-
[
|
| 2406 |
-
"HP:0001061",
|
| 2407 |
-
"HP:0001649",
|
| 2408 |
-
"HP:0001712",
|
| 2409 |
-
"HP:0001962",
|
| 2410 |
-
"HP:0002829",
|
| 2411 |
-
"HP:0003115",
|
| 2412 |
-
"HP:0004342",
|
| 2413 |
-
"HP:0007514",
|
| 2414 |
-
"HP:0012513",
|
| 2415 |
-
"HP:0025131",
|
| 2416 |
-
"HP:0030837",
|
| 2417 |
-
"HP:0030839",
|
| 2418 |
-
"HP:0030840",
|
| 2419 |
-
"HP:0200034"
|
| 2420 |
-
],
|
| 2421 |
-
[
|
| 2422 |
-
"CCRD:27",
|
| 2423 |
-
"OMIM:301500",
|
| 2424 |
-
"ORPHA:324"
|
| 2425 |
-
]
|
| 2426 |
-
],
|
| 2427 |
-
[
|
| 2428 |
-
[
|
| 2429 |
-
"HP:0001167",
|
| 2430 |
-
"HP:0001225",
|
| 2431 |
-
"HP:0001369",
|
| 2432 |
-
"HP:0001386",
|
| 2433 |
-
"HP:0001397",
|
| 2434 |
-
"HP:0001600",
|
| 2435 |
-
"HP:0001707",
|
| 2436 |
-
"HP:0001780",
|
| 2437 |
-
"HP:0001785",
|
| 2438 |
-
"HP:0001824",
|
| 2439 |
-
"HP:0001945",
|
| 2440 |
-
"HP:0002027",
|
| 2441 |
-
"HP:0002092",
|
| 2442 |
-
"HP:0002149",
|
| 2443 |
-
"HP:0002592",
|
| 2444 |
-
"HP:0002815",
|
| 2445 |
-
"HP:0002829",
|
| 2446 |
-
"HP:0003149",
|
| 2447 |
-
"HP:0003326",
|
| 2448 |
-
"HP:0003401",
|
| 2449 |
-
"HP:0003418",
|
| 2450 |
-
"HP:0003493",
|
| 2451 |
-
"HP:0003546",
|
| 2452 |
-
"HP:0003565",
|
| 2453 |
-
"HP:0004396",
|
| 2454 |
-
"HP:0005197",
|
| 2455 |
-
"HP:0005202",
|
| 2456 |
-
"HP:0010741",
|
| 2457 |
-
"HP:0011227",
|
| 2458 |
-
"HP:0011956",
|
| 2459 |
-
"HP:0012185",
|
| 2460 |
-
"HP:0012398",
|
| 2461 |
-
"HP:0012611",
|
| 2462 |
-
"HP:0025230",
|
| 2463 |
-
"HP:0030157",
|
| 2464 |
-
"HP:0030166",
|
| 2465 |
-
"HP:0030836",
|
| 2466 |
-
"HP:0030838",
|
| 2467 |
-
"HP:0030839",
|
| 2468 |
-
"HP:0030840",
|
| 2469 |
-
"HP:0030841",
|
| 2470 |
-
"HP:0030948",
|
| 2471 |
-
"HP:0100016",
|
| 2472 |
-
"HP:0410019"
|
| 2473 |
-
],
|
| 2474 |
-
[
|
| 2475 |
-
"ORPHA:3452"
|
| 2476 |
-
]
|
| 2477 |
-
],
|
| 2478 |
-
[
|
| 2479 |
-
[
|
| 2480 |
-
"HP:0000010",
|
| 2481 |
-
"HP:0000979",
|
| 2482 |
-
"HP:0001945",
|
| 2483 |
-
"HP:0001974",
|
| 2484 |
-
"HP:0002633",
|
| 2485 |
-
"HP:0010741",
|
| 2486 |
-
"HP:0012514",
|
| 2487 |
-
"HP:0031520"
|
| 2488 |
-
],
|
| 2489 |
-
[
|
| 2490 |
-
"ORPHA:761"
|
| 2491 |
-
]
|
| 2492 |
-
]
|
| 2493 |
-
]
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
RDpatient_data/Public/LIRICAL.json
DELETED
|
The diff for this file is too large to render.
See raw diff
|
|
|
RDpatient_data/Public/MME.json
DELETED
|
@@ -1,797 +0,0 @@
|
|
| 1 |
-
[
|
| 2 |
-
[
|
| 3 |
-
[
|
| 4 |
-
"HP:0000272",
|
| 5 |
-
"HP:0000347",
|
| 6 |
-
"HP:0000384",
|
| 7 |
-
"HP:0000405",
|
| 8 |
-
"HP:0000413",
|
| 9 |
-
"HP:0000453",
|
| 10 |
-
"HP:0000545",
|
| 11 |
-
"HP:0008551",
|
| 12 |
-
"HP:0008773",
|
| 13 |
-
"HP:0009623",
|
| 14 |
-
"HP:0010880",
|
| 15 |
-
"HP:0011342",
|
| 16 |
-
"HP:0011451",
|
| 17 |
-
"HP:0011471"
|
| 18 |
-
],
|
| 19 |
-
[
|
| 20 |
-
"OMIM:610536",
|
| 21 |
-
"ORPHA:79113"
|
| 22 |
-
]
|
| 23 |
-
],
|
| 24 |
-
[
|
| 25 |
-
[
|
| 26 |
-
"HP:0000253",
|
| 27 |
-
"HP:0000648",
|
| 28 |
-
"HP:0001263",
|
| 29 |
-
"HP:0001285",
|
| 30 |
-
"HP:0001336",
|
| 31 |
-
"HP:0001518",
|
| 32 |
-
"HP:0001857",
|
| 33 |
-
"HP:0003561",
|
| 34 |
-
"HP:0009879",
|
| 35 |
-
"HP:0009882",
|
| 36 |
-
"HP:0011451",
|
| 37 |
-
"HP:0012469",
|
| 38 |
-
"HP:0100026"
|
| 39 |
-
],
|
| 40 |
-
[
|
| 41 |
-
"OMIM:614261"
|
| 42 |
-
]
|
| 43 |
-
],
|
| 44 |
-
[
|
| 45 |
-
[
|
| 46 |
-
"HP:0000407",
|
| 47 |
-
"HP:0000510",
|
| 48 |
-
"HP:0001272",
|
| 49 |
-
"HP:0001284",
|
| 50 |
-
"HP:0001761",
|
| 51 |
-
"HP:0001765",
|
| 52 |
-
"HP:0002474",
|
| 53 |
-
"HP:0003447",
|
| 54 |
-
"HP:0003474",
|
| 55 |
-
"HP:0007141",
|
| 56 |
-
"HP:0007240",
|
| 57 |
-
"HP:0009088",
|
| 58 |
-
"HP:0011096",
|
| 59 |
-
"HP:0200070"
|
| 60 |
-
],
|
| 61 |
-
[
|
| 62 |
-
"OMIM:233400"
|
| 63 |
-
]
|
| 64 |
-
],
|
| 65 |
-
[
|
| 66 |
-
[
|
| 67 |
-
"HP:0002194",
|
| 68 |
-
"HP:0002282",
|
| 69 |
-
"HP:0007033",
|
| 70 |
-
"HP:0008058"
|
| 71 |
-
],
|
| 72 |
-
[
|
| 73 |
-
"OMIM:615960"
|
| 74 |
-
]
|
| 75 |
-
],
|
| 76 |
-
[
|
| 77 |
-
[
|
| 78 |
-
"HP:0000160",
|
| 79 |
-
"HP:0000518",
|
| 80 |
-
"HP:0000574",
|
| 81 |
-
"HP:0000824",
|
| 82 |
-
"HP:0002194",
|
| 83 |
-
"HP:0002857",
|
| 84 |
-
"HP:0002943",
|
| 85 |
-
"HP:0003510",
|
| 86 |
-
"HP:0005775",
|
| 87 |
-
"HP:0007067",
|
| 88 |
-
"HP:0008619",
|
| 89 |
-
"HP:0011220"
|
| 90 |
-
],
|
| 91 |
-
[
|
| 92 |
-
"OMIM:616007",
|
| 93 |
-
"ORPHA:436174"
|
| 94 |
-
]
|
| 95 |
-
],
|
| 96 |
-
[
|
| 97 |
-
[
|
| 98 |
-
"HP:0000486",
|
| 99 |
-
"HP:0000639",
|
| 100 |
-
"HP:0000750",
|
| 101 |
-
"HP:0001090",
|
| 102 |
-
"HP:0001270",
|
| 103 |
-
"HP:0001274",
|
| 104 |
-
"HP:0001320",
|
| 105 |
-
"HP:0002198",
|
| 106 |
-
"HP:0002350",
|
| 107 |
-
"HP:0002418",
|
| 108 |
-
"HP:0007033",
|
| 109 |
-
"HP:0011003",
|
| 110 |
-
"HP:0011932",
|
| 111 |
-
"HP:0030283"
|
| 112 |
-
],
|
| 113 |
-
[
|
| 114 |
-
"OMIM:615960"
|
| 115 |
-
]
|
| 116 |
-
],
|
| 117 |
-
[
|
| 118 |
-
[
|
| 119 |
-
"HP:0000486",
|
| 120 |
-
"HP:0000545",
|
| 121 |
-
"HP:0000639",
|
| 122 |
-
"HP:0001090",
|
| 123 |
-
"HP:0001270",
|
| 124 |
-
"HP:0001320",
|
| 125 |
-
"HP:0002198",
|
| 126 |
-
"HP:0002350",
|
| 127 |
-
"HP:0007033",
|
| 128 |
-
"HP:0007980"
|
| 129 |
-
],
|
| 130 |
-
[
|
| 131 |
-
"OMIM:615960"
|
| 132 |
-
]
|
| 133 |
-
],
|
| 134 |
-
[
|
| 135 |
-
[
|
| 136 |
-
"HP:0000486",
|
| 137 |
-
"HP:0000518",
|
| 138 |
-
"HP:0000646",
|
| 139 |
-
"HP:0000729",
|
| 140 |
-
"HP:0000750",
|
| 141 |
-
"HP:0001090",
|
| 142 |
-
"HP:0001105",
|
| 143 |
-
"HP:0001270",
|
| 144 |
-
"HP:0001320",
|
| 145 |
-
"HP:0002198",
|
| 146 |
-
"HP:0002350",
|
| 147 |
-
"HP:0002418",
|
| 148 |
-
"HP:0004691",
|
| 149 |
-
"HP:0007033",
|
| 150 |
-
"HP:0007980",
|
| 151 |
-
"HP:0011003",
|
| 152 |
-
"HP:0030285"
|
| 153 |
-
],
|
| 154 |
-
[
|
| 155 |
-
"OMIM:615960"
|
| 156 |
-
]
|
| 157 |
-
],
|
| 158 |
-
[
|
| 159 |
-
[
|
| 160 |
-
"HP:0000479",
|
| 161 |
-
"HP:0000545",
|
| 162 |
-
"HP:0000657",
|
| 163 |
-
"HP:0000750",
|
| 164 |
-
"HP:0001270",
|
| 165 |
-
"HP:0001290",
|
| 166 |
-
"HP:0002198",
|
| 167 |
-
"HP:0007033",
|
| 168 |
-
"HP:0007068"
|
| 169 |
-
],
|
| 170 |
-
[
|
| 171 |
-
"OMIM:615960"
|
| 172 |
-
]
|
| 173 |
-
],
|
| 174 |
-
[
|
| 175 |
-
[
|
| 176 |
-
"HP:0000486",
|
| 177 |
-
"HP:0000533",
|
| 178 |
-
"HP:0000639",
|
| 179 |
-
"HP:0000657",
|
| 180 |
-
"HP:0000750",
|
| 181 |
-
"HP:0001090",
|
| 182 |
-
"HP:0001270",
|
| 183 |
-
"HP:0001290",
|
| 184 |
-
"HP:0007033",
|
| 185 |
-
"HP:0007068",
|
| 186 |
-
"HP:0011003"
|
| 187 |
-
],
|
| 188 |
-
[
|
| 189 |
-
"OMIM:615960"
|
| 190 |
-
]
|
| 191 |
-
],
|
| 192 |
-
[
|
| 193 |
-
[
|
| 194 |
-
"HP:0000175",
|
| 195 |
-
"HP:0000201",
|
| 196 |
-
"HP:0001328",
|
| 197 |
-
"HP:0011968",
|
| 198 |
-
"HP:0012418",
|
| 199 |
-
"HP:0030282"
|
| 200 |
-
],
|
| 201 |
-
[
|
| 202 |
-
"OMIM:117650",
|
| 203 |
-
"ORPHA:1393"
|
| 204 |
-
]
|
| 205 |
-
],
|
| 206 |
-
[
|
| 207 |
-
[
|
| 208 |
-
"HP:0000201",
|
| 209 |
-
"HP:0000218",
|
| 210 |
-
"HP:0000494",
|
| 211 |
-
"HP:0000670",
|
| 212 |
-
"HP:0000878",
|
| 213 |
-
"HP:0001328",
|
| 214 |
-
"HP:0011968",
|
| 215 |
-
"HP:0030279",
|
| 216 |
-
"HP:0030282"
|
| 217 |
-
],
|
| 218 |
-
[
|
| 219 |
-
"OMIM:117650",
|
| 220 |
-
"ORPHA:1393"
|
| 221 |
-
]
|
| 222 |
-
],
|
| 223 |
-
[
|
| 224 |
-
[
|
| 225 |
-
"HP:0000175",
|
| 226 |
-
"HP:0000201",
|
| 227 |
-
"HP:0000316",
|
| 228 |
-
"HP:0000494",
|
| 229 |
-
"HP:0001257",
|
| 230 |
-
"HP:0002011",
|
| 231 |
-
"HP:0002072",
|
| 232 |
-
"HP:0002091",
|
| 233 |
-
"HP:0030282"
|
| 234 |
-
],
|
| 235 |
-
[
|
| 236 |
-
"OMIM:117650",
|
| 237 |
-
"ORPHA:1393"
|
| 238 |
-
]
|
| 239 |
-
],
|
| 240 |
-
[
|
| 241 |
-
[
|
| 242 |
-
"HP:0000175",
|
| 243 |
-
"HP:0000201",
|
| 244 |
-
"HP:0000453",
|
| 245 |
-
"HP:0000465",
|
| 246 |
-
"HP:0000476",
|
| 247 |
-
"HP:0001040",
|
| 248 |
-
"HP:0001631",
|
| 249 |
-
"HP:0002650",
|
| 250 |
-
"HP:0012306"
|
| 251 |
-
],
|
| 252 |
-
[
|
| 253 |
-
"OMIM:117650",
|
| 254 |
-
"ORPHA:1393"
|
| 255 |
-
]
|
| 256 |
-
],
|
| 257 |
-
[
|
| 258 |
-
[
|
| 259 |
-
"HP:0000201",
|
| 260 |
-
"HP:0000218",
|
| 261 |
-
"HP:0000765"
|
| 262 |
-
],
|
| 263 |
-
[
|
| 264 |
-
"OMIM:117650",
|
| 265 |
-
"ORPHA:1393"
|
| 266 |
-
]
|
| 267 |
-
],
|
| 268 |
-
[
|
| 269 |
-
[
|
| 270 |
-
"HP:0000175",
|
| 271 |
-
"HP:0000201",
|
| 272 |
-
"HP:0000405",
|
| 273 |
-
"HP:0000824",
|
| 274 |
-
"HP:0002650",
|
| 275 |
-
"HP:0030282"
|
| 276 |
-
],
|
| 277 |
-
[
|
| 278 |
-
"OMIM:117650",
|
| 279 |
-
"ORPHA:1393"
|
| 280 |
-
]
|
| 281 |
-
],
|
| 282 |
-
[
|
| 283 |
-
[
|
| 284 |
-
"HP:0000175",
|
| 285 |
-
"HP:0000201",
|
| 286 |
-
"HP:0000883",
|
| 287 |
-
"HP:0002025",
|
| 288 |
-
"HP:0002650",
|
| 289 |
-
"HP:0100543"
|
| 290 |
-
],
|
| 291 |
-
[
|
| 292 |
-
"OMIM:117650",
|
| 293 |
-
"ORPHA:1393"
|
| 294 |
-
]
|
| 295 |
-
],
|
| 296 |
-
[
|
| 297 |
-
[
|
| 298 |
-
"HP:0000175",
|
| 299 |
-
"HP:0000201",
|
| 300 |
-
"HP:0001631",
|
| 301 |
-
"HP:0002093",
|
| 302 |
-
"HP:0004719",
|
| 303 |
-
"HP:0011968",
|
| 304 |
-
"HP:0030282",
|
| 305 |
-
"HP:0030300"
|
| 306 |
-
],
|
| 307 |
-
[
|
| 308 |
-
"OMIM:117650",
|
| 309 |
-
"ORPHA:1393"
|
| 310 |
-
]
|
| 311 |
-
],
|
| 312 |
-
[
|
| 313 |
-
[
|
| 314 |
-
"HP:0000175",
|
| 315 |
-
"HP:0000201",
|
| 316 |
-
"HP:0000204",
|
| 317 |
-
"HP:0002098",
|
| 318 |
-
"HP:0002650",
|
| 319 |
-
"HP:0030282",
|
| 320 |
-
"HP:0030300"
|
| 321 |
-
],
|
| 322 |
-
[
|
| 323 |
-
"OMIM:117650",
|
| 324 |
-
"ORPHA:1393"
|
| 325 |
-
]
|
| 326 |
-
],
|
| 327 |
-
[
|
| 328 |
-
[
|
| 329 |
-
"HP:0000201",
|
| 330 |
-
"HP:0000405",
|
| 331 |
-
"HP:0000486",
|
| 332 |
-
"HP:0000540",
|
| 333 |
-
"HP:0001631",
|
| 334 |
-
"HP:0002098",
|
| 335 |
-
"HP:0002650",
|
| 336 |
-
"HP:0011968",
|
| 337 |
-
"HP:0030282"
|
| 338 |
-
],
|
| 339 |
-
[
|
| 340 |
-
"OMIM:117650",
|
| 341 |
-
"ORPHA:1393"
|
| 342 |
-
]
|
| 343 |
-
],
|
| 344 |
-
[
|
| 345 |
-
[
|
| 346 |
-
"HP:0000175",
|
| 347 |
-
"HP:0000201",
|
| 348 |
-
"HP:0000405",
|
| 349 |
-
"HP:0000878",
|
| 350 |
-
"HP:0000883",
|
| 351 |
-
"HP:0002650",
|
| 352 |
-
"HP:0030282"
|
| 353 |
-
],
|
| 354 |
-
[
|
| 355 |
-
"OMIM:117650",
|
| 356 |
-
"ORPHA:1393"
|
| 357 |
-
]
|
| 358 |
-
],
|
| 359 |
-
[
|
| 360 |
-
[
|
| 361 |
-
"HP:0000160",
|
| 362 |
-
"HP:0000272",
|
| 363 |
-
"HP:0000286",
|
| 364 |
-
"HP:0000337",
|
| 365 |
-
"HP:0000639",
|
| 366 |
-
"HP:0001250",
|
| 367 |
-
"HP:0003196",
|
| 368 |
-
"HP:0009765",
|
| 369 |
-
"HP:0011344",
|
| 370 |
-
"HP:0011347"
|
| 371 |
-
],
|
| 372 |
-
[
|
| 373 |
-
"OMIM:245570"
|
| 374 |
-
]
|
| 375 |
-
],
|
| 376 |
-
[
|
| 377 |
-
[
|
| 378 |
-
"HP:0000926",
|
| 379 |
-
"HP:0001230",
|
| 380 |
-
"HP:0001999",
|
| 381 |
-
"HP:0002104",
|
| 382 |
-
"HP:0002866",
|
| 383 |
-
"HP:0003025",
|
| 384 |
-
"HP:0003180",
|
| 385 |
-
"HP:0005257",
|
| 386 |
-
"HP:0006009",
|
| 387 |
-
"HP:0008416",
|
| 388 |
-
"HP:0008905",
|
| 389 |
-
"HP:0010049",
|
| 390 |
-
"HP:0011675",
|
| 391 |
-
"HP:0030306"
|
| 392 |
-
],
|
| 393 |
-
[
|
| 394 |
-
"OMIM:250220",
|
| 395 |
-
"ORPHA:93317"
|
| 396 |
-
]
|
| 397 |
-
],
|
| 398 |
-
[
|
| 399 |
-
[
|
| 400 |
-
"HP:0000926",
|
| 401 |
-
"HP:0000946",
|
| 402 |
-
"HP:0001248",
|
| 403 |
-
"HP:0001290",
|
| 404 |
-
"HP:0001321",
|
| 405 |
-
"HP:0001678",
|
| 406 |
-
"HP:0002079",
|
| 407 |
-
"HP:0002098",
|
| 408 |
-
"HP:0002123",
|
| 409 |
-
"HP:0003180",
|
| 410 |
-
"HP:0003375",
|
| 411 |
-
"HP:0004273",
|
| 412 |
-
"HP:0005108",
|
| 413 |
-
"HP:0009879",
|
| 414 |
-
"HP:0100255"
|
| 415 |
-
],
|
| 416 |
-
[
|
| 417 |
-
"OMIM:250220",
|
| 418 |
-
"ORPHA:93317"
|
| 419 |
-
]
|
| 420 |
-
],
|
| 421 |
-
[
|
| 422 |
-
[
|
| 423 |
-
"HP:0000495",
|
| 424 |
-
"HP:0000522",
|
| 425 |
-
"HP:0001250",
|
| 426 |
-
"HP:0001252",
|
| 427 |
-
"HP:0001263",
|
| 428 |
-
"HP:0001315",
|
| 429 |
-
"HP:0001395",
|
| 430 |
-
"HP:0001773",
|
| 431 |
-
"HP:0002019",
|
| 432 |
-
"HP:0002171",
|
| 433 |
-
"HP:0002353",
|
| 434 |
-
"HP:0002910",
|
| 435 |
-
"HP:0006254",
|
| 436 |
-
"HP:0006579",
|
| 437 |
-
"HP:0009830",
|
| 438 |
-
"HP:0010605",
|
| 439 |
-
"HP:0012520",
|
| 440 |
-
"HP:0200055"
|
| 441 |
-
],
|
| 442 |
-
[
|
| 443 |
-
"OMIM:615273",
|
| 444 |
-
"ORPHA:404454"
|
| 445 |
-
]
|
| 446 |
-
],
|
| 447 |
-
[
|
| 448 |
-
[
|
| 449 |
-
"HP:0000252",
|
| 450 |
-
"HP:0000495",
|
| 451 |
-
"HP:0000522",
|
| 452 |
-
"HP:0001252",
|
| 453 |
-
"HP:0001263",
|
| 454 |
-
"HP:0001315",
|
| 455 |
-
"HP:0001511",
|
| 456 |
-
"HP:0002019",
|
| 457 |
-
"HP:0002151",
|
| 458 |
-
"HP:0002353",
|
| 459 |
-
"HP:0002650",
|
| 460 |
-
"HP:0002910",
|
| 461 |
-
"HP:0009830"
|
| 462 |
-
],
|
| 463 |
-
[
|
| 464 |
-
"OMIM:615273",
|
| 465 |
-
"ORPHA:404454"
|
| 466 |
-
]
|
| 467 |
-
],
|
| 468 |
-
[
|
| 469 |
-
[
|
| 470 |
-
"HP:0000486",
|
| 471 |
-
"HP:0000495",
|
| 472 |
-
"HP:0000522",
|
| 473 |
-
"HP:0001250",
|
| 474 |
-
"HP:0001252",
|
| 475 |
-
"HP:0001263",
|
| 476 |
-
"HP:0001315",
|
| 477 |
-
"HP:0001395",
|
| 478 |
-
"HP:0001511",
|
| 479 |
-
"HP:0001773",
|
| 480 |
-
"HP:0002019",
|
| 481 |
-
"HP:0002151",
|
| 482 |
-
"HP:0002171",
|
| 483 |
-
"HP:0002353",
|
| 484 |
-
"HP:0002650",
|
| 485 |
-
"HP:0002910",
|
| 486 |
-
"HP:0006254",
|
| 487 |
-
"HP:0006579",
|
| 488 |
-
"HP:0006958",
|
| 489 |
-
"HP:0010605",
|
| 490 |
-
"HP:0012448",
|
| 491 |
-
"HP:0012520",
|
| 492 |
-
"HP:0200055"
|
| 493 |
-
],
|
| 494 |
-
[
|
| 495 |
-
"OMIM:615273",
|
| 496 |
-
"ORPHA:404454"
|
| 497 |
-
]
|
| 498 |
-
],
|
| 499 |
-
[
|
| 500 |
-
[
|
| 501 |
-
"HP:0000218",
|
| 502 |
-
"HP:0000252",
|
| 503 |
-
"HP:0000286",
|
| 504 |
-
"HP:0000347",
|
| 505 |
-
"HP:0000508",
|
| 506 |
-
"HP:0000522",
|
| 507 |
-
"HP:0001250",
|
| 508 |
-
"HP:0001252",
|
| 509 |
-
"HP:0001263",
|
| 510 |
-
"HP:0001315",
|
| 511 |
-
"HP:0001511",
|
| 512 |
-
"HP:0001773",
|
| 513 |
-
"HP:0002019",
|
| 514 |
-
"HP:0002119",
|
| 515 |
-
"HP:0002151",
|
| 516 |
-
"HP:0002353",
|
| 517 |
-
"HP:0002418",
|
| 518 |
-
"HP:0002650",
|
| 519 |
-
"HP:0003196",
|
| 520 |
-
"HP:0006254",
|
| 521 |
-
"HP:0006579",
|
| 522 |
-
"HP:0009085",
|
| 523 |
-
"HP:0009830",
|
| 524 |
-
"HP:0009891",
|
| 525 |
-
"HP:0200055"
|
| 526 |
-
],
|
| 527 |
-
[
|
| 528 |
-
"OMIM:615273",
|
| 529 |
-
"ORPHA:404454"
|
| 530 |
-
]
|
| 531 |
-
],
|
| 532 |
-
[
|
| 533 |
-
[
|
| 534 |
-
"HP:0000252",
|
| 535 |
-
"HP:0000286",
|
| 536 |
-
"HP:0001252",
|
| 537 |
-
"HP:0001263",
|
| 538 |
-
"HP:0001395",
|
| 539 |
-
"HP:0001511",
|
| 540 |
-
"HP:0002353",
|
| 541 |
-
"HP:0003196",
|
| 542 |
-
"HP:0006579",
|
| 543 |
-
"HP:0006956",
|
| 544 |
-
"HP:0100022"
|
| 545 |
-
],
|
| 546 |
-
[
|
| 547 |
-
"OMIM:615273",
|
| 548 |
-
"ORPHA:404454"
|
| 549 |
-
]
|
| 550 |
-
],
|
| 551 |
-
[
|
| 552 |
-
[
|
| 553 |
-
"HP:0000252",
|
| 554 |
-
"HP:0000286",
|
| 555 |
-
"HP:0000486",
|
| 556 |
-
"HP:0000522",
|
| 557 |
-
"HP:0000657",
|
| 558 |
-
"HP:0001182",
|
| 559 |
-
"HP:0001252",
|
| 560 |
-
"HP:0001263",
|
| 561 |
-
"HP:0001315",
|
| 562 |
-
"HP:0001864",
|
| 563 |
-
"HP:0002007",
|
| 564 |
-
"HP:0002019",
|
| 565 |
-
"HP:0002557",
|
| 566 |
-
"HP:0002910",
|
| 567 |
-
"HP:0005487",
|
| 568 |
-
"HP:0006579",
|
| 569 |
-
"HP:0010605",
|
| 570 |
-
"HP:0010804",
|
| 571 |
-
"HP:0011918"
|
| 572 |
-
],
|
| 573 |
-
[
|
| 574 |
-
"OMIM:615273",
|
| 575 |
-
"ORPHA:404454"
|
| 576 |
-
]
|
| 577 |
-
],
|
| 578 |
-
[
|
| 579 |
-
[
|
| 580 |
-
"HP:0000252",
|
| 581 |
-
"HP:0000431",
|
| 582 |
-
"HP:0000486",
|
| 583 |
-
"HP:0000495",
|
| 584 |
-
"HP:0000520",
|
| 585 |
-
"HP:0000522",
|
| 586 |
-
"HP:0000657",
|
| 587 |
-
"HP:0000678",
|
| 588 |
-
"HP:0001250",
|
| 589 |
-
"HP:0001252",
|
| 590 |
-
"HP:0001263",
|
| 591 |
-
"HP:0001315",
|
| 592 |
-
"HP:0001511",
|
| 593 |
-
"HP:0001773",
|
| 594 |
-
"HP:0002019",
|
| 595 |
-
"HP:0002353",
|
| 596 |
-
"HP:0002553",
|
| 597 |
-
"HP:0002650",
|
| 598 |
-
"HP:0005320",
|
| 599 |
-
"HP:0200055"
|
| 600 |
-
],
|
| 601 |
-
[
|
| 602 |
-
"OMIM:615273",
|
| 603 |
-
"ORPHA:404454"
|
| 604 |
-
]
|
| 605 |
-
],
|
| 606 |
-
[
|
| 607 |
-
[
|
| 608 |
-
"HP:0000252",
|
| 609 |
-
"HP:0000718",
|
| 610 |
-
"HP:0001250",
|
| 611 |
-
"HP:0010864"
|
| 612 |
-
],
|
| 613 |
-
[
|
| 614 |
-
"OMIM:604317",
|
| 615 |
-
"ORPHA:2512"
|
| 616 |
-
]
|
| 617 |
-
],
|
| 618 |
-
[
|
| 619 |
-
[
|
| 620 |
-
"HP:0000639",
|
| 621 |
-
"HP:0000648",
|
| 622 |
-
"HP:0001252",
|
| 623 |
-
"HP:0001254",
|
| 624 |
-
"HP:0001260",
|
| 625 |
-
"HP:0002066",
|
| 626 |
-
"HP:0002370",
|
| 627 |
-
"HP:0007965",
|
| 628 |
-
"HP:0008619"
|
| 629 |
-
],
|
| 630 |
-
[
|
| 631 |
-
"OMIM:601338",
|
| 632 |
-
"ORPHA:1171"
|
| 633 |
-
]
|
| 634 |
-
],
|
| 635 |
-
[
|
| 636 |
-
[
|
| 637 |
-
"HP:0000218",
|
| 638 |
-
"HP:0000278",
|
| 639 |
-
"HP:0000316",
|
| 640 |
-
"HP:0000319",
|
| 641 |
-
"HP:0000347",
|
| 642 |
-
"HP:0000369",
|
| 643 |
-
"HP:0000494",
|
| 644 |
-
"HP:0000768",
|
| 645 |
-
"HP:0001166",
|
| 646 |
-
"HP:0001265",
|
| 647 |
-
"HP:0001363",
|
| 648 |
-
"HP:0001388",
|
| 649 |
-
"HP:0001537",
|
| 650 |
-
"HP:0001655",
|
| 651 |
-
"HP:0001762",
|
| 652 |
-
"HP:0001763",
|
| 653 |
-
"HP:0002151",
|
| 654 |
-
"HP:0002410",
|
| 655 |
-
"HP:0002474",
|
| 656 |
-
"HP:0002868",
|
| 657 |
-
"HP:0003298",
|
| 658 |
-
"HP:0003396",
|
| 659 |
-
"HP:0006801",
|
| 660 |
-
"HP:0006889",
|
| 661 |
-
"HP:0010665",
|
| 662 |
-
"HP:0011220"
|
| 663 |
-
],
|
| 664 |
-
[
|
| 665 |
-
"OMIM:182212",
|
| 666 |
-
"ORPHA:2462"
|
| 667 |
-
]
|
| 668 |
-
],
|
| 669 |
-
[
|
| 670 |
-
[
|
| 671 |
-
"HP:0000218",
|
| 672 |
-
"HP:0000286",
|
| 673 |
-
"HP:0000316",
|
| 674 |
-
"HP:0000322",
|
| 675 |
-
"HP:0000348",
|
| 676 |
-
"HP:0000463",
|
| 677 |
-
"HP:0000954",
|
| 678 |
-
"HP:0001252",
|
| 679 |
-
"HP:0001263",
|
| 680 |
-
"HP:0001344",
|
| 681 |
-
"HP:0002007",
|
| 682 |
-
"HP:0002079",
|
| 683 |
-
"HP:0002282",
|
| 684 |
-
"HP:0002912",
|
| 685 |
-
"HP:0003196",
|
| 686 |
-
"HP:0006956",
|
| 687 |
-
"HP:0007793",
|
| 688 |
-
"HP:0008070",
|
| 689 |
-
"HP:0010055",
|
| 690 |
-
"HP:0010804",
|
| 691 |
-
"HP:0012120",
|
| 692 |
-
"HP:0012448",
|
| 693 |
-
"HP:0040155",
|
| 694 |
-
"HP:0045034"
|
| 695 |
-
],
|
| 696 |
-
[
|
| 697 |
-
"OMIM:614105"
|
| 698 |
-
]
|
| 699 |
-
],
|
| 700 |
-
[
|
| 701 |
-
[
|
| 702 |
-
"HP:0000325",
|
| 703 |
-
"HP:0000430",
|
| 704 |
-
"HP:0000490",
|
| 705 |
-
"HP:0000558",
|
| 706 |
-
"HP:0000684",
|
| 707 |
-
"HP:0004322",
|
| 708 |
-
"HP:0007495",
|
| 709 |
-
"HP:0009125"
|
| 710 |
-
],
|
| 711 |
-
[
|
| 712 |
-
"OMIM:269880",
|
| 713 |
-
"ORPHA:3163"
|
| 714 |
-
]
|
| 715 |
-
],
|
| 716 |
-
[
|
| 717 |
-
[
|
| 718 |
-
"HP:0000085",
|
| 719 |
-
"HP:0000179",
|
| 720 |
-
"HP:0000215",
|
| 721 |
-
"HP:0000252",
|
| 722 |
-
"HP:0000348",
|
| 723 |
-
"HP:0000490",
|
| 724 |
-
"HP:0000545",
|
| 725 |
-
"HP:0000582",
|
| 726 |
-
"HP:0000670",
|
| 727 |
-
"HP:0000689",
|
| 728 |
-
"HP:0001643",
|
| 729 |
-
"HP:0002342",
|
| 730 |
-
"HP:0003189",
|
| 731 |
-
"HP:0009765",
|
| 732 |
-
"HP:0009890",
|
| 733 |
-
"HP:0012745"
|
| 734 |
-
],
|
| 735 |
-
[
|
| 736 |
-
"OMIM:613680"
|
| 737 |
-
]
|
| 738 |
-
],
|
| 739 |
-
[
|
| 740 |
-
[
|
| 741 |
-
"HP:0000010",
|
| 742 |
-
"HP:0000230",
|
| 743 |
-
"HP:0000403",
|
| 744 |
-
"HP:0001744",
|
| 745 |
-
"HP:0001875",
|
| 746 |
-
"HP:0001888",
|
| 747 |
-
"HP:0004854",
|
| 748 |
-
"HP:0004866",
|
| 749 |
-
"HP:0005401",
|
| 750 |
-
"HP:0012138"
|
| 751 |
-
],
|
| 752 |
-
[
|
| 753 |
-
"OMIM:612541",
|
| 754 |
-
"CCRD:104"
|
| 755 |
-
]
|
| 756 |
-
],
|
| 757 |
-
[
|
| 758 |
-
[
|
| 759 |
-
"HP:0001539",
|
| 760 |
-
"HP:0005214",
|
| 761 |
-
"HP:0011100"
|
| 762 |
-
],
|
| 763 |
-
[
|
| 764 |
-
"OMIM:243150",
|
| 765 |
-
"ORPHA:436252"
|
| 766 |
-
]
|
| 767 |
-
],
|
| 768 |
-
[
|
| 769 |
-
[
|
| 770 |
-
"HP:0000252",
|
| 771 |
-
"HP:0000486",
|
| 772 |
-
"HP:0000522",
|
| 773 |
-
"HP:0000657",
|
| 774 |
-
"HP:0001252",
|
| 775 |
-
"HP:0001263",
|
| 776 |
-
"HP:0001395",
|
| 777 |
-
"HP:0001773",
|
| 778 |
-
"HP:0002019",
|
| 779 |
-
"HP:0002059",
|
| 780 |
-
"HP:0002079",
|
| 781 |
-
"HP:0002151",
|
| 782 |
-
"HP:0002353",
|
| 783 |
-
"HP:0002472",
|
| 784 |
-
"HP:0002910",
|
| 785 |
-
"HP:0006579",
|
| 786 |
-
"HP:0006958",
|
| 787 |
-
"HP:0010605",
|
| 788 |
-
"HP:0030303",
|
| 789 |
-
"HP:0100022",
|
| 790 |
-
"HP:0200055"
|
| 791 |
-
],
|
| 792 |
-
[
|
| 793 |
-
"OMIM:615273",
|
| 794 |
-
"ORPHA:404454"
|
| 795 |
-
]
|
| 796 |
-
]
|
| 797 |
-
]
|
|
|
|
|
|
|
|
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|
RDpatient_data/Public/RAMEDIS.json
DELETED
|
The diff for this file is too large to render.
See raw diff
|
|
|
README.md
CHANGED
|
@@ -4,8 +4,8 @@ configs:
|
|
| 4 |
data_files:
|
| 5 |
- split: test
|
| 6 |
path:
|
| 7 |
-
- RDpatient_data/Public/*.json
|
| 8 |
-
- RDpatient_data/PUMCH/*.
|
| 9 |
license: apache-2.0
|
| 10 |
task_categories:
|
| 11 |
- question-answering
|
|
@@ -13,14 +13,18 @@ language:
|
|
| 13 |
- en
|
| 14 |
tags:
|
| 15 |
- medical
|
|
|
|
|
|
|
| 16 |
---
|
| 17 |
|
| 18 |
-
#
|
| 19 |
|
| 20 |
<!-- Provide a quick summary of the dataset. -->
|
| 21 |
|
| 22 |
This dataset card aims to be a base template for new datasets. It has been generated using [this raw template](https://github.com/huggingface/huggingface_hub/blob/main/src/huggingface_hub/templates/datasetcard_template.md?plain=1).
|
| 23 |
|
|
|
|
|
|
|
| 24 |
## Dataset Details
|
| 25 |
|
| 26 |
### Dataset Description
|
|
@@ -151,4 +155,16 @@ Users should be made aware of the risks, biases and limitations of the dataset.
|
|
| 151 |
|
| 152 |
## Dataset Card Contact
|
| 153 |
|
| 154 |
-
[More Information Needed]
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 4 |
data_files:
|
| 5 |
- split: test
|
| 6 |
path:
|
| 7 |
+
# - RDpatient_data/Public/*.json
|
| 8 |
+
- RDpatient_data/PUMCH/*.jsonl
|
| 9 |
license: apache-2.0
|
| 10 |
task_categories:
|
| 11 |
- question-answering
|
|
|
|
| 13 |
- en
|
| 14 |
tags:
|
| 15 |
- medical
|
| 16 |
+
size_categories:
|
| 17 |
+
- 1K<n<10K
|
| 18 |
---
|
| 19 |
|
| 20 |
+
# RareBench
|
| 21 |
|
| 22 |
<!-- Provide a quick summary of the dataset. -->
|
| 23 |
|
| 24 |
This dataset card aims to be a base template for new datasets. It has been generated using [this raw template](https://github.com/huggingface/huggingface_hub/blob/main/src/huggingface_hub/templates/datasetcard_template.md?plain=1).
|
| 25 |
|
| 26 |
+
Github Repo for RareBench: https://github.com/chenxz1111/RareBench Arxiv Paper for RareBench: https://arxiv.org/pdf/2402.06341.pdf
|
| 27 |
+
|
| 28 |
## Dataset Details
|
| 29 |
|
| 30 |
### Dataset Description
|
|
|
|
| 155 |
|
| 156 |
## Dataset Card Contact
|
| 157 |
|
| 158 |
+
[More Information Needed]
|
| 159 |
+
|
| 160 |
+
|
| 161 |
+
<a name="citation"></a>
|
| 162 |
+
## 📝 Citation
|
| 163 |
+
```
|
| 164 |
+
@article{chen2024rarebench,
|
| 165 |
+
title={RareBench: Can LLMs Serve as Rare Diseases Specialists?},
|
| 166 |
+
author={Chen, Xuanzhong and Mao, Xiaohao and Guo, Qihan and Wang, Lun and Zhang, Shuyang and Chen, Ting},
|
| 167 |
+
journal={arXiv preprint arXiv:2402.06341},
|
| 168 |
+
year={2024}
|
| 169 |
+
}
|
| 170 |
+
```
|