COMBINED SAPOSIN DEFICIENCY

PSAPD

http://purl.bioontology.org/ontology/OMIM/611721

PSAPD

COMBINED SAP DEFICIENCY

PROSAPOSIN DEFICIENCY

C2673635

10q22.1

PSAPD

PSAP

SAP1

PARK24

http://purl.bioontology.org/ontology/OMIM/MTHU033877

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU021607

http://purl.bioontology.org/ontology/OMIM/MTHU021605

http://purl.bioontology.org/ontology/OMIM/MTHU021609

http://purl.bioontology.org/ontology/OMIM/MTHU021603

http://purl.bioontology.org/ontology/OMIM/MTHU004041

http://purl.bioontology.org/ontology/OMIM/MTHU010666

http://purl.bioontology.org/ontology/OMIM/MTHU021497

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU004043

http://purl.bioontology.org/ontology/OMIM/MTHU043071

http://purl.bioontology.org/ontology/OMIM/MTHU021604

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU021608

http://purl.bioontology.org/ontology/OMIM/MTHU021606

http://purl.bioontology.org/ontology/OMIM/MTHU000197

Phenotype description, molecular basis known.

611721

3

pound

COMBINED SAPOSIN DEFICIENCY

Death in infancy [MISCELLANEOUS]

Onset at birth [MISCELLANEOUS]

Caused by mutation in the prosaposin gene (PSAP, 176801.0005) [MOLECULAR BASIS]

T047