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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/612304
http://purl.bioontology.org/ontology/OMIM/612304
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Preferred Name | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE |
Synonyms |
PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
PROC DEFICIENCY, AUTOSOMAL RECESSIVE
THPH4
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
PROC DEFICIENCY, AUTOSOMAL RECESSIVE
THPH4
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prefLabel | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
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Gene Symbol |
THPH4
PC
THPH3
PROC
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notation | 612304
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Scope Statement | May be lethal in infancy if untreated [MISCELLANEOUS]
See also autosomal dominant form (176860) [MISCELLANEOUS]
Caused by mutation in the protein C gene (PROC, 612283.0003) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein C deficiency, homozygous) [MISCELLANEOUS]
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OMIM MimType Value | pound
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Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | 2q13-q14
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tui | T047
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cui | C2676759
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