MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
BDPLT4 7686
GPS 7686
aminoacylase deficiency 17686
microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism C537686
platelet-type bleeding disorder 4 7686
familial hypertrophic, 13 cardiomyopathy C567686
inborn aminoacylase deficiency 17686
platelet alpha-granule deficiency 7686
bleeding disorder, Platelet-type, 4 7686
inborn aminoacylase activity disorder 17686
rare inborn error of aminoacylase activity 17686
inborn error of aminoacylase activity 17686
syndromic 8 microphthalmia C537686
microphthalmia, ectrodactyly of lower limbs, and prognathism microcephaly C537686
marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins 7686