POIKILODERMA WITH NEUTROPENIA

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http://purl.bioontology.org/ontology/OMIM/604173

PN

POIKILODERMA WITH NEUTROPENIA, CLERICUZIO-TYPE

C1858723

16q13

USB1

C16orf57

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http://purl.bioontology.org/ontology/OMIM/MTHU073672

http://purl.bioontology.org/ontology/OMIM/MTHU004627

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU000146

http://purl.bioontology.org/ontology/OMIM/MTHU002944

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU073669

http://purl.bioontology.org/ontology/OMIM/MTHU032230

http://purl.bioontology.org/ontology/OMIM/MTHU073667

http://purl.bioontology.org/ontology/OMIM/MTHU028123

http://purl.bioontology.org/ontology/OMIM/MTHU073671

http://purl.bioontology.org/ontology/OMIM/MTHU013230

http://purl.bioontology.org/ontology/OMIM/MTHU073673

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

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU030442

http://purl.bioontology.org/ontology/OMIM/MTHU008785

http://purl.bioontology.org/ontology/OMIM/MTHU073670

http://purl.bioontology.org/ontology/OMIM/MTHU033389

http://purl.bioontology.org/ontology/OMIM/MTHU002945

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

http://purl.bioontology.org/ontology/OMIM/MTHU038634

http://purl.bioontology.org/ontology/OMIM/MTHU036911

http://purl.bioontology.org/ontology/OMIM/MTHU033387

http://purl.bioontology.org/ontology/OMIM/MTHU068403

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU073668

http://purl.bioontology.org/ontology/OMIM/MTHU002570

Phenotype description, molecular basis known.

604173

3

pound

POIKILODERMA WITH NEUTROPENIA

Caused by mutation in the chromosome 16 open reading frame 57 gene (C16orf57, 613276.0001) [MOLECULAR BASIS]

Craniofacial dysmorphism is variably present [MISCELLANEOUS]

T047