DISO2_YXZ Find_IDs Find_Terms Annotation
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created at 2017-12-21 11:07:44 UTC
updated at 2017-12-22 12:31:05 UTC
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520,470 entries
Label
Id
Osteopetrosis, Autosomal Recessive 4 DISO:MTH
OSTEOPETROSIS, INFANTILE MALIGNANT 2 DISO:OMIM
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 DISO:OMIM
Decreased CSF pyridoxal 5-prime-phosphate (PLP) DISO:OMIM
Mandibular and submandibular pain, episodic, triggered by eating and yawning DISO:OMIM
Rhizomelic arm shortening DISO:OMIM
Rhizomelic arm shortening DISO:HPO
MACULAR DEGENERATION, AGE-RELATED, 9 DISO:OMIM
ARMD9 DISO:OMIM
Macular Degeneration, Age-Related, 9 DISO:MSH
Macular Degeneration, Age-Related, 9 DISO:MTH
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY DISO:OMIM
SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION DISO:OMIM
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation DISO:MSH
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency DISO:MSH