Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615342 http://purl.bioontology.org/ontology/OMIM/615342
Preferred Name	PULMONARY HYPERTENSION, PRIMARY, 2
Synonyms	PPH2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PPH2
prefLabel	PULMONARY HYPERTENSION, PRIMARY, 2
Gene Symbol	PPH2 SMAD9 MADH9 MADH6
Scope Statement	Caused by mutation in the homolog of the Drosophila mothers against decapentaplegic 9 gene (SMAD9, 603295.0001) [MOLECULAR BASIS] Variable age at onset [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU015837 http://purl.bioontology.org/ontology/OMIM/MTHU043979 http://purl.bioontology.org/ontology/OMIM/MTHU005938
tui	T047
Gene Locus	13q12-q14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615342
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3888002
OMIM Entry Type	3
OMIM MimType Value	pound

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