PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS

http://purl.bioontology.org/ontology/OMIM/177850

PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS

C1867450

C1867451

16p13.1

ABCC6

MLP1

ARA

PXE

GACI2

ABC34

http://purl.bioontology.org/ontology/OMIM/MTHU037127

http://purl.bioontology.org/ontology/OMIM/MTHU015864

http://purl.bioontology.org/ontology/OMIM/MTHU015855

http://purl.bioontology.org/ontology/OMIM/MTHU015860

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU008097

http://purl.bioontology.org/ontology/OMIM/MTHU015861

http://purl.bioontology.org/ontology/OMIM/MTHU015857

http://purl.bioontology.org/ontology/OMIM/MTHU015856

http://purl.bioontology.org/ontology/OMIM/MTHU036699

http://purl.bioontology.org/ontology/OMIM/MTHU003281

http://purl.bioontology.org/ontology/OMIM/MTHU015858

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU037126

http://purl.bioontology.org/ontology/OMIM/MTHU015862

http://purl.bioontology.org/ontology/OMIM/MTHU001845

http://purl.bioontology.org/ontology/OMIM/MTHU015854

http://purl.bioontology.org/ontology/OMIM/MTHU014087

http://purl.bioontology.org/ontology/OMIM/MTHU037097

http://purl.bioontology.org/ontology/OMIM/MTHU037125

http://purl.bioontology.org/ontology/OMIM/MTHU003212

http://purl.bioontology.org/ontology/OMIM/MTHU015863

http://purl.bioontology.org/ontology/OMIM/MTHU015859

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU015865

Phenotype description, molecular basis known.

177850

3

pound

PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Caused by mutations in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, 603234.0005) [MOLECULAR BASIS]

Allelic to autosomal recessive PXE (264800) [MISCELLANEOUS]

T047