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