Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Pre-capillary pulmonary hypertension (HP:0033578)

Term ID:

33578

Name:

Pre-capillary pulmonary hypertension

Synonym:

Precapillary pulmonary hypertension

Definition:

Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).

Comments:

Reference:

HP:0033578

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0033578	HP:0033578	Pre-capillary pulmonary hypertension	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	11
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	11
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	HP:0040283 - Occasional	145
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040281 - Very frequent	61
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	HP:0040283 - Occasional	37
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	2
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	2
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	4
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	4
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.	19
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040284 - Very rare	411
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	92
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	645
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.	133
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.	34
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C	.
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.	10
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040282 - Frequent	51
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.	33
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent	55
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.	238
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	83
HP:0033578	HP:0002092	Pulmonary arterial hypertension	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0033578	HP:0033423	Pulmonary arterial hypertension with positive acute response to NO challenge	2	CL E G H
HP:0033578	HP:0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge	2	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7

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.

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