PROLIDASE DEFICIENCY
http://purl.bioontology.org/ontology/OMIM/170100
C0268532
19cen-q13.11
PEPD
http://purl.bioontology.org/ontology/OMIM/MTHU000567
http://purl.bioontology.org/ontology/OMIM/MTHU037075
http://purl.bioontology.org/ontology/OMIM/MTHU002606
http://purl.bioontology.org/ontology/OMIM/MTHU031317
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU036919
http://purl.bioontology.org/ontology/OMIM/MTHU016289
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU016295
http://purl.bioontology.org/ontology/OMIM/MTHU005626
http://purl.bioontology.org/ontology/OMIM/MTHU031321
http://purl.bioontology.org/ontology/OMIM/MTHU000581
http://purl.bioontology.org/ontology/OMIM/MTHU016292
http://purl.bioontology.org/ontology/OMIM/MTHU014136
http://purl.bioontology.org/ontology/OMIM/MTHU016290
http://purl.bioontology.org/ontology/OMIM/MTHU012768
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU030442
http://purl.bioontology.org/ontology/OMIM/MTHU002599
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU016288
http://purl.bioontology.org/ontology/OMIM/MTHU031316
http://purl.bioontology.org/ontology/OMIM/MTHU016294
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU004921
http://purl.bioontology.org/ontology/OMIM/MTHU003537
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU058285
http://purl.bioontology.org/ontology/OMIM/MTHU016293
http://purl.bioontology.org/ontology/OMIM/MTHU005786
http://purl.bioontology.org/ontology/OMIM/MTHU016291
Phenotype description, molecular basis known.
170100
3
pound
Highly variable expression [MISCELLANEOUS]
Median age at diagnosis 7 years [MISCELLANEOUS]
Caused by mutation in the peptidase D gene (PEPD, 613230.0001) [MOLECULAR BASIS]
T047
loading...