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
ARCL3B 13755
PYCR1 deficiency 13755
PYCR1 de Barsy syndrome 13755
pyrroline-5-carboxylate reductase 1 deficiency 13755
PYCR1-related de Barsy syndrome 13755
autosomal recessive cutis laxa type IIIB 13755
cutis laxa, autosomal recessive, type 3B 13755
cutis laxa, autosomal recessive, type IIIB 13755
cutis laxa, autosomal recessive, type IIIB; ARCL3B http://purl.obolibrary.org/obo/MONDO_0013755
De Barsy syndrome B 13755
de Barsy syndrome caused by mutation in PYCR1 13755