Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619527
http://purl.bioontology.org/ontology/OMIM/619527
Preferred Name

PONTOCEREBELLAR HYPOPLASIA, TYPE 16
Synonyms
PCH16
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PCH16
prefLabel
PONTOCEREBELLAR HYPOPLASIA, TYPE 16
Gene Symbol
PCH16
HIPER1
MINPP1
Scope Statement
Caused by mutation in the multiple inositol polyphosphate phosphatase 1 gene (MINPP1, 605391.0004) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU010663
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU069488
http://purl.bioontology.org/ontology/OMIM/MTHU062058
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU000247
http://purl.bioontology.org/ontology/OMIM/MTHU012550
http://purl.bioontology.org/ontology/OMIM/MTHU037346
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU074252
http://purl.bioontology.org/ontology/OMIM/MTHU001370
http://purl.bioontology.org/ontology/OMIM/MTHU033932
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU033525
http://purl.bioontology.org/ontology/OMIM/MTHU049055
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU047153
http://purl.bioontology.org/ontology/OMIM/MTHU073075
http://purl.bioontology.org/ontology/OMIM/MTHU000394
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU074251
http://purl.bioontology.org/ontology/OMIM/MTHU015450
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU000709
http://purl.bioontology.org/ontology/OMIM/MTHU011923
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU062977
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU002752
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tui
T047
Gene Locus
10q23
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619527
Semantic type UMLS property
Has inheritance type
cui
C5561987
OMIM Entry Type
3
OMIM MimType Value
pound
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