Disease #03913 (PHN (hypertension, pulmonary, neonatal, susceptibility to (PHN)), OMIM:615371)

Official abbreviation PHN
Name hypertension, pulmonary, neonatal, susceptibility to (PHN)
OMIM ID 615371
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CPS1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2017-07-24 11:37:33 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00100353 - PubMed: Baertling 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Oman Arab 01y03m - - - PHN see paper; ..., failure to thrive, lactic acidemia, early-onset pulmonary arterial hypertension, isolated complex IV deficiency COX5A COX5A 1 2 Fabian Baertling
00111093 - - - - - - - - - - - PHN primary pulmonary hypertension, association with - CPS1 1 23 Johan den Dunnen
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