Human Phenotype Ontology 
Grandparent Node:
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Abnormality of pulmonary circulation (HP:0030875)help
Parent Node:
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Elevated pulmonary artery pressure (HP:0004890)help
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Pulmonary arterial hypertension (HP:0002092)help
Term ID: 2092
Name: Pulmonary arterial hypertension
Synonym: Increased blood pressure in blood vessels of lungs; Primary pulmonary hypertension; Pulmonary artery hypertension
Definition: Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Comments:
Reference: HP:0002092
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002092HP:0002092Pulmonary arterial hypertension0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0002092HP:0002092Pulmonary arterial hypertension0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj typeHP:0040283 - Occasional53
HP:0002092HP:0002092Pulmonary arterial hypertension0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome.94
HP:0002092HP:0002092Pulmonary arterial hypertension0ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional208
HP:0002092HP:0002092Pulmonary arterial hypertension0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0002092HP:0002092Pulmonary arterial hypertension0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0002092HP:0002092Pulmonary arterial hypertension0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0002092HP:0002092Pulmonary arterial hypertension0ALDH1A2 CL E G H885415472OMIM:620025
HP:0002092HP:0002092Pulmonary arterial hypertension0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0002092HP:0002092Pulmonary arterial hypertension0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0002092HP:0002092Pulmonary arterial hypertension0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0002092HP:0002092Pulmonary arterial hypertension0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002092HP:0002092Pulmonary arterial hypertension0ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive.
HP:0002092HP:0002092Pulmonary arterial hypertension0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22.
HP:0002092HP:0002092Pulmonary arterial hypertension0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0002092HP:0002092Pulmonary arterial hypertension0BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1525
HP:0002092HP:0002092Pulmonary arterial hypertension0BMPR2 CL E G H6591078OMIM:265450PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1525
HP:0002092HP:0002092Pulmonary arterial hypertension0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0002092HP:0002092Pulmonary arterial hypertension0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002092HP:0002092Pulmonary arterial hypertension0CACNA1C CL E G H7751390OMIM:620029572
HP:0002092HP:0002092Pulmonary arterial hypertension0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalitiesHP:0040283 - Occasional51
HP:0002092HP:0002092Pulmonary arterial hypertension0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040282 - Frequent51
HP:0002092HP:0002092Pulmonary arterial hypertension0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional11
HP:0002092HP:0002092Pulmonary arterial hypertension0CAV1 CL E G H8571527ORPHA:220402Limited cutaneous systemic sclerosisHP:0040283 - Occasional11
HP:0002092HP:0002092Pulmonary arterial hypertension0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0002092HP:0002092Pulmonary arterial hypertension0CAV1 CL E G H8571527OMIM:615343Pulmonary hypertension, primary, 3.11
HP:0002092HP:0002092Pulmonary arterial hypertension0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0CCN2 CL E G H14902500ORPHA:220402Limited cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0CCR6 CL E G H12351607ORPHA:220402Limited cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0002092HP:0002092Pulmonary arterial hypertension0CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional5
HP:0002092HP:0002092Pulmonary arterial hypertension0CITED2 CL E G H103701987ORPHA:99105Atrial septal defect, sinus venosus typeHP:0040283 - Occasional5
HP:0002092HP:0002092Pulmonary arterial hypertension0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional102
HP:0002092HP:0002092Pulmonary arterial hypertension0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0002092HP:0002092Pulmonary arterial hypertension0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:0002092HP:0002092Pulmonary arterial hypertension0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:0002092HP:0002092Pulmonary arterial hypertension0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0002092HP:0002092Pulmonary arterial hypertension0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002092HP:0002092Pulmonary arterial hypertension0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0002092HP:0002092Pulmonary arterial hypertension0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040283 - Occasional6
HP:0002092HP:0002092Pulmonary arterial hypertension0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0002092HP:0002092Pulmonary arterial hypertension0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0002092HP:0002092Pulmonary arterial hypertension0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002092HP:0002092Pulmonary arterial hypertension0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0002092HP:0002092Pulmonary arterial hypertension0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0002092HP:0002092Pulmonary arterial hypertension0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0002092HP:0002092Pulmonary arterial hypertension0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0002092HP:0002092Pulmonary arterial hypertension0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0002092HP:0002092Pulmonary arterial hypertension0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0002092HP:0002092Pulmonary arterial hypertension0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0002092HP:0002092Pulmonary arterial hypertension0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0002092HP:0002092Pulmonary arterial hypertension0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0002092HP:0002092Pulmonary arterial hypertension0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0002092HP:0002092Pulmonary arterial hypertension0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricansHP:0040283 - Occasional145
HP:0002092HP:0002092Pulmonary arterial hypertension0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0002092HP:0002092Pulmonary arterial hypertension0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0002092HP:0002092Pulmonary arterial hypertension0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0002092HP:0002092Pulmonary arterial hypertension0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0002092HP:0002092Pulmonary arterial hypertension0FOXF1 CL E G H22943809ORPHA:210122Congenital alveolar capillary dysplasiaHP:0040281 - Very frequent61
HP:0002092HP:0002092Pulmonary arterial hypertension0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0002092HP:0002092Pulmonary arterial hypertension0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0002092HP:0002092Pulmonary arterial hypertension0GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional87
HP:0002092HP:0002092Pulmonary arterial hypertension0GATA6 CL E G H26274174OMIM:614475Atrial septal defect 9HP:0040283 - Occasional37
HP:0002092HP:0002092Pulmonary arterial hypertension0GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional37
HP:0002092HP:0002092Pulmonary arterial hypertension0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0002092HP:0002092Pulmonary arterial hypertension0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0002092HP:0002092Pulmonary arterial hypertension0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0002092HP:0002092Pulmonary arterial hypertension0GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 3.68
HP:0002092HP:0002092Pulmonary arterial hypertension0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040283 - Occasional580
HP:0002092HP:0002092Pulmonary arterial hypertension0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040282 - Frequent4
HP:0002092HP:0002092Pulmonary arterial hypertension0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional2
HP:0002092HP:0002092Pulmonary arterial hypertension0HLA-DRB1 CL E G H31234948ORPHA:220402Limited cutaneous systemic sclerosisHP:0040283 - Occasional2
HP:0002092HP:0002092Pulmonary arterial hypertension0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0002092HP:0002092Pulmonary arterial hypertension0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0002092HP:0002092Pulmonary arterial hypertension0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0002092HP:0002092Pulmonary arterial hypertension0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0002092HP:0002092Pulmonary arterial hypertension0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040282 - Frequent31
HP:0002092HP:0002092Pulmonary arterial hypertension0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002092HP:0002092Pulmonary arterial hypertension0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002092HP:0002092Pulmonary arterial hypertension0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional4
HP:0002092HP:0002092Pulmonary arterial hypertension0IRF5 CL E G H36636120ORPHA:220402Limited cutaneous systemic sclerosisHP:0040283 - Occasional4
HP:0002092HP:0002092Pulmonary arterial hypertension0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional57
HP:0002092HP:0002092Pulmonary arterial hypertension0KCNK3 CL E G H37776278OMIM:615344Pulmonary hypertension, primary, 4.7
HP:0002092HP:0002092Pulmonary arterial hypertension0KIAA0319L CL E G H7993230071ORPHA:220402Limited cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0002092HP:0002092Pulmonary arterial hypertension0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial.19
HP:0002092HP:0002092Pulmonary arterial hypertension0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040284 - Very rare411
HP:0002092HP:0002092Pulmonary arterial hypertension0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0002092HP:0002092Pulmonary arterial hypertension0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0002092HP:0002092Pulmonary arterial hypertension0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0002092HP:0002092Pulmonary arterial hypertension0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040284 - Very rare645
HP:0002092HP:0002092Pulmonary arterial hypertension0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0002092HP:0002092Pulmonary arterial hypertension0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0002092HP:0002092Pulmonary arterial hypertension0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0002092HP:0002092Pulmonary arterial hypertension0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040282 - Frequent33
HP:0002092HP:0002092Pulmonary arterial hypertension0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040282 - Frequent
HP:0002092HP:0002092Pulmonary arterial hypertension0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0002092HP:0002092Pulmonary arterial hypertension0MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional97
HP:0002092HP:0002092Pulmonary arterial hypertension0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic.133
HP:0002092HP:0002092Pulmonary arterial hypertension0MYBPC3 CL E G H46077551OMIM:615396Left ventricular noncompaction 101143
HP:0002092HP:0002092Pulmonary arterial hypertension0MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional452
HP:0002092HP:0002092Pulmonary arterial hypertension0MYH7 CL E G H46257577OMIM:613426Cardiomyopathy, dilated, 1S1269
HP:0002092HP:0002092Pulmonary arterial hypertension0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0002092HP:0002092Pulmonary arterial hypertension0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0002092HP:0002092Pulmonary arterial hypertension0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002092HP:0002092Pulmonary arterial hypertension0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002092HP:0002092Pulmonary arterial hypertension0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0002092HP:0002092Pulmonary arterial hypertension0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0002092HP:0002092Pulmonary arterial hypertension0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0002092HP:0002092Pulmonary arterial hypertension0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 1.34
HP:0002092HP:0002092Pulmonary arterial hypertension0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0002092HP:0002092Pulmonary arterial hypertension0NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional90
HP:0002092HP:0002092Pulmonary arterial hypertension0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0002092HP:0002092Pulmonary arterial hypertension0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0002092HP:0002092Pulmonary arterial hypertension0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5.452
HP:0002092HP:0002092Pulmonary arterial hypertension0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0002092HP:0002092Pulmonary arterial hypertension0PDSS1 CL E G H2359017759OMIM:614651Coenzyme Q10 deficiency, primary, 2.40
HP:0002092HP:0002092Pulmonary arterial hypertension0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0002092HP:0002092Pulmonary arterial hypertension0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0002092HP:0002092Pulmonary arterial hypertension0PPCS CL E G H7971725686OMIM:618189Cardiomyopathy, dilated, 2C.
HP:0002092HP:0002092Pulmonary arterial hypertension0PRIM1 CL E G H55579369OMIM:620005
HP:0002092HP:0002092Pulmonary arterial hypertension0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0002092HP:0002092Pulmonary arterial hypertension0RPL3L CL E G H612310351OMIM:619371CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0002092HP:0002092Pulmonary arterial hypertension0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0002092HP:0002092Pulmonary arterial hypertension0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040283 - Occasional77
HP:0002092HP:0002092Pulmonary arterial hypertension0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic.10
HP:0002092HP:0002092Pulmonary arterial hypertension0SFTPB CL E G H643910801ORPHA:217563Neonatal acute respiratory distress due to SP-B deficiencyHP:0040282 - Frequent51
HP:0002092HP:0002092Pulmonary arterial hypertension0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 151
HP:0002092HP:0002092Pulmonary arterial hypertension0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic.33
HP:0002092HP:0002092Pulmonary arterial hypertension0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0002092HP:0002092Pulmonary arterial hypertension0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0002092HP:0002092Pulmonary arterial hypertension0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0002092HP:0002092Pulmonary arterial hypertension0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0002092HP:0002092Pulmonary arterial hypertension0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0002092HP:0002092Pulmonary arterial hypertension0SMAD9 CL E G H40936774OMIM:615342Pulmonary hypertension, primary, 2.132
HP:0002092HP:0002092Pulmonary arterial hypertension0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0002092HP:0002092Pulmonary arterial hypertension0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0002092HP:0002092Pulmonary arterial hypertension0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional2
HP:0002092HP:0002092Pulmonary arterial hypertension0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional89
HP:0002092HP:0002092Pulmonary arterial hypertension0TBX20 CL E G H5705711598ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional20
HP:0002092HP:0002092Pulmonary arterial hypertension0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040282 - Frequent55
HP:0002092HP:0002092Pulmonary arterial hypertension0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional82
HP:0002092HP:0002092Pulmonary arterial hypertension0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic.238
HP:0002092HP:0002092Pulmonary arterial hypertension0THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional23
HP:0002092HP:0002092Pulmonary arterial hypertension0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040283 - Occasional6
HP:0002092HP:0002092Pulmonary arterial hypertension0TLL1 CL E G H709211843ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional6
HP:0002092HP:0002092Pulmonary arterial hypertension0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional44
HP:0002092HP:0002092Pulmonary arterial hypertension0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0002092HP:0002092Pulmonary arterial hypertension0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0002092HP:0002092Pulmonary arterial hypertension0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002092HP:0002092Pulmonary arterial hypertension0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0002092HP:0002092Pulmonary arterial hypertension0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0002092HP:0002092Pulmonary arterial hypertension0VCL CL E G H741412665OMIM:613255Cardiomyopathy, familial hypertrophic, 15248
HP:0002092HP:0002092Pulmonary arterial hypertension0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2490
HP:0002092HP:0002092Pulmonary arterial hypertension0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0002092HP:0002092Pulmonary arterial hypertension0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040284 - Very rare83
HP:0002092HP:0002092Pulmonary arterial hypertension0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002092HP:0033423Pulmonary arterial hypertension with positive acute response to NO challenge1 CL E G H
HP:0002092HP:0033424Pulmonary arterial hypertension with lack of acute response to NO challenge1KCNK3 CL E G H37776278OMIM:615344Pulmonary hypertension, primary, 47


Genes (149) :ABCC6 ABCD4 ACTA2 ACTC1 ACVRL1 AFF4 ALDH1A2 ALMS1 ARHGAP31 ARSB ATP13A3 ATP5F1A BANF1 BMPR2 BTNL2 CA2 CACNA1C CACNA1D CAV1 CCN2 CCR6 CHST3 CITED2 CLCN7 COG1 COL1A1 COL1A2 COLQ COX1 COX2 COX3 COX5A COX6B1 COX7B COX8A CTCF DEF6 DLK1 DLL4 DOCK6 EIF2AK4 ENG ENPP1 EOGT FBN1 FGFR1 FGFR3 FIG4 FLNA FOXF1 FOXP1 G6PC3 GATA4 GATA6 GBA1 GDF2 GJA1 HBB HLA-B HLA-DRB1 HSPG2 IDUA IKBKG IL12B IL6ST IPO8 IRF5 JAK2 KCNK3 KIAA0319L KRAS KRT18 LAMA2 LAMB2 LIFR LIPT1 LMNA MED12 MED25 MEG3 MGP MLX MMACHC MPL MUC5B MYBPC3 MYH6 MYH7 MYMK NAA10 ND1 ND4 ND5 ND6 NDUFA8 NDUFB10 NF1 NFIX NFU1 NKX2-1 NKX2-5 NOD2 NOTCH1 PAM16 PDSS1 PGM1 PIGN PPCS PRIM1 RBPJ RPL3L RTL1 SARS2 SCARB2 SFTPA2 SFTPB SFTPC SLC25A24 SLC29A3 SLC37A4 SMAD4 SMAD9 SMARCAL1 SNX10 STAT1 TBX20 TBX4 TCIRG1 TERT THPO TLL1 TNFSF11 TOM1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRRAP TTC26 UBE2A VAC14 VCL VHL VPS33A ZMPSTE24 ZNF699

Diseases (118) :ORPHA:51608 OMIM:614857 OMIM:613834 ORPHA:99103 ORPHA:774 OMIM:600376 ORPHA:444077 OMIM:620025 ORPHA:64 ORPHA:974 OMIM:100300 OMIM:253200 OMIM:265400 OMIM:616045 OMIM:614008 OMIM:178600 OMIM:265450 OMIM:612387 ORPHA:2785 OMIM:620029 OMIM:615474 ORPHA:369929 ORPHA:220393 ORPHA:220402 OMIM:606721 OMIM:615343 OMIM:143095 ORPHA:99105 ORPHA:667 ORPHA:263508 OMIM:259420 ORPHA:98915 ORPHA:550 OMIM:619064 OMIM:619051 OMIM:300887 OMIM:619059 ORPHA:363611 OMIM:619573 ORPHA:96334 OMIM:234810 OMIM:187300 OMIM:614185 ORPHA:2396 OMIM:616482 OMIM:216340 ORPHA:3472 OMIM:309350 OMIM:265380 ORPHA:210122 ORPHA:391372 OMIM:612541 OMIM:614475 ORPHA:77259 ORPHA:77261 OMIM:230800 ORPHA:2072 OMIM:600309 ORPHA:231222 ORPHA:3287 OMIM:181000 ORPHA:800 OMIM:607015 ORPHA:464 OMIM:619751 OMIM:619472 ORPHA:71493 OMIM:615344 OMIM:215600 ORPHA:258 OMIM:601559 OMIM:616299 ORPHA:740 ORPHA:93932 ORPHA:464738 ORPHA:85202 ORPHA:79282 OMIM:178500 OMIM:615396 OMIM:613426 OMIM:254940 OMIM:300855 OMIM:619272 OMIM:619003 ORPHA:97685 ORPHA:447980 OMIM:602535 OMIM:605711 ORPHA:209905 ORPHA:90340 OMIM:616028 OMIM:613320 OMIM:614651 OMIM:614921 ORPHA:280633 OMIM:618189 OMIM:620005 OMIM:619371 OMIM:613845 ORPHA:217563 OMIM:265120 OMIM:610913 OMIM:612289 OMIM:602782 OMIM:232240 OMIM:615342 OMIM:242900 ORPHA:1830 ORPHA:391487 ORPHA:261279 ORPHA:99106 OMIM:618454 OMIM:619534 ORPHA:163956 OMIM:613255 OMIM:263400 ORPHA:505248 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.