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

Grandparent Node:
Abnormal respiratory system physiology (HP:0002795)

Parent Node:
Dyspnea (HP:0002094)

..Starting node
..Exertional dyspnea (HP:0002875)

Term ID:

2875

Name:

Exertional dyspnea

Synonym:

Exertional breathlessness; Exertional dyspnoea; Shortness of breathing upon physical activity

Definition:

Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.

Comments:

Reference:

HP:0002875

Genes and Diseases:

Child Nodes:

Sister Nodes:

Orthopnea (HP:0012764)

Paroxysmal dyspnea (HP:0012763)

Respiratory distress (HP:0002098)

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:0002875	HP:0002875	Exertional dyspnea	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	147
HP:0002875	HP:0002875	Exertional dyspnea	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0002875	HP:0002875	Exertional dyspnea	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0002875	HP:0002875	Exertional dyspnea	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0002875	HP:0002875	Exertional dyspnea	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	208
HP:0002875	HP:0002875	Exertional dyspnea	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0002875	HP:0002875	Exertional dyspnea	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0002875	HP:0002875	Exertional dyspnea	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002875	HP:0002875	Exertional dyspnea	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0002875	HP:0002875	Exertional dyspnea	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0002875	HP:0002875	Exertional dyspnea	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0002875	HP:0002875	Exertional dyspnea	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0002875	HP:0002875	Exertional dyspnea	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0002875	HP:0002875	Exertional dyspnea	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0002875	HP:0002875	Exertional dyspnea	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	5
HP:0002875	HP:0002875	Exertional dyspnea	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent	5
HP:0002875	HP:0002875	Exertional dyspnea	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002875	HP:0002875	Exertional dyspnea	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0002875	HP:0002875	Exertional dyspnea	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0002875	HP:0002875	Exertional dyspnea	0	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5		17
HP:0002875	HP:0002875	Exertional dyspnea	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent	2
HP:0002875	HP:0002875	Exertional dyspnea	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent	24
HP:0002875	HP:0002875	Exertional dyspnea	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.	24
HP:0002875	HP:0002875	Exertional dyspnea	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0002875	HP:0002875	Exertional dyspnea	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0002875	HP:0002875	Exertional dyspnea	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0002875	HP:0002875	Exertional dyspnea	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002875	HP:0002875	Exertional dyspnea	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	747
HP:0002875	HP:0002875	Exertional dyspnea	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0002875	HP:0002875	Exertional dyspnea	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0002875	HP:0002875	Exertional dyspnea	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002875	HP:0002875	Exertional dyspnea	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040283 - Occasional	43
HP:0002875	HP:0002875	Exertional dyspnea	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002875	HP:0002875	Exertional dyspnea	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0002875	HP:0002875	Exertional dyspnea	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0002875	HP:0002875	Exertional dyspnea	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0002875	HP:0002875	Exertional dyspnea	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	87
HP:0002875	HP:0002875	Exertional dyspnea	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	37
HP:0002875	HP:0002875	Exertional dyspnea	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0002875	HP:0002875	Exertional dyspnea	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0002875	HP:0002875	Exertional dyspnea	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0002875	HP:0002875	Exertional dyspnea	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0002875	HP:0002875	Exertional dyspnea	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	92
HP:0002875	HP:0002875	Exertional dyspnea	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0002875	HP:0002875	Exertional dyspnea	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0002875	HP:0002875	Exertional dyspnea	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0002875	HP:0002875	Exertional dyspnea	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0002875	HP:0002875	Exertional dyspnea	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0002875	HP:0002875	Exertional dyspnea	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0002875	HP:0002875	Exertional dyspnea	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	133
HP:0002875	HP:0002875	Exertional dyspnea	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.	133
HP:0002875	HP:0002875	Exertional dyspnea	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0002875	HP:0002875	Exertional dyspnea	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0002875	HP:0002875	Exertional dyspnea	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0002875	HP:0002875	Exertional dyspnea	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	452
HP:0002875	HP:0002875	Exertional dyspnea	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0002875	HP:0002875	Exertional dyspnea	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.	95
HP:0002875	HP:0002875	Exertional dyspnea	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0002875	HP:0002875	Exertional dyspnea	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0002875	HP:0002875	Exertional dyspnea	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040283 - Occasional	745
HP:0002875	HP:0002875	Exertional dyspnea	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	90
HP:0002875	HP:0002875	Exertional dyspnea	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0002875	HP:0002875	Exertional dyspnea	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0002875	HP:0002875	Exertional dyspnea	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	26
HP:0002875	HP:0002875	Exertional dyspnea	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare	759
HP:0002875	HP:0002875	Exertional dyspnea	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0002875	HP:0002875	Exertional dyspnea	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0002875	HP:0002875	Exertional dyspnea	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0002875	HP:0002875	Exertional dyspnea	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0002875	HP:0002875	Exertional dyspnea	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040282 - Frequent	134
HP:0002875	HP:0002875	Exertional dyspnea	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0002875	HP:0002875	Exertional dyspnea	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional	166
HP:0002875	HP:0002875	Exertional dyspnea	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0002875	HP:0002875	Exertional dyspnea	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0002875	HP:0002875	Exertional dyspnea	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0002875	HP:0002875	Exertional dyspnea	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	77
HP:0002875	HP:0002875	Exertional dyspnea	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0002875	HP:0002875	Exertional dyspnea	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	19
HP:0002875	HP:0002875	Exertional dyspnea	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	10
HP:0002875	HP:0002875	Exertional dyspnea	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.	10
HP:0002875	HP:0002875	Exertional dyspnea	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	33
HP:0002875	HP:0002875	Exertional dyspnea	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.	33
HP:0002875	HP:0002875	Exertional dyspnea	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0002875	HP:0002875	Exertional dyspnea	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0002875	HP:0002875	Exertional dyspnea	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0002875	HP:0002875	Exertional dyspnea	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0002875	HP:0002875	Exertional dyspnea	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0002875	HP:0002875	Exertional dyspnea	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0002875	HP:0002875	Exertional dyspnea	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0002875	HP:0002875	Exertional dyspnea	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0002875	HP:0002875	Exertional dyspnea	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	2
HP:0002875	HP:0002875	Exertional dyspnea	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0002875	HP:0002875	Exertional dyspnea	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0002875	HP:0002875	Exertional dyspnea	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	20
HP:0002875	HP:0002875	Exertional dyspnea	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	48
HP:0002875	HP:0002875	Exertional dyspnea	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	238
HP:0002875	HP:0002875	Exertional dyspnea	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.	238
HP:0002875	HP:0002875	Exertional dyspnea	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0002875	HP:0002875	Exertional dyspnea	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0002875	HP:0002875	Exertional dyspnea	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0002875	HP:0002875	Exertional dyspnea	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0002875	HP:0002875	Exertional dyspnea	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0002875	HP:0002875	Exertional dyspnea	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	6
HP:0002875	HP:0002875	Exertional dyspnea	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0002875	HP:0002875	Exertional dyspnea	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.	4
HP:0002875	HP:0002875	Exertional dyspnea	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002875	HP:0002875	Exertional dyspnea	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002875	HP:0002875	Exertional dyspnea	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0002875	HP:0002875	Exertional dyspnea	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0002875	HP:0002875	Exertional dyspnea	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0002875	HP:0002875	Exertional dyspnea	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (99) :ABCA3 ACADM ACTA2 ACTC1 AGRN AK9 ATP11A ATP13A3 BCOR CHRNA1 CHRNB1 CHRND CHRNE CITED2 COA8 COL13A1 COLQ CSF2RB CYB5A CYB5R3 DNA2 DOK7 DPP9 DSP EIF2AK4 ELN ENG EPOR FAM13A FBN1 FIP1L1 FOXE3 GATA4 GATA6 GYG1 HEY2 IRF2BP2 JAK2 LAMB2 LMNA LOX LRP4 MAT2A MFAP5 MUC5B MUSK MYH11 MYH6 MYH7 MYL3 MYLK NABP1 NEB NKX2-5 NPM1 NUMA1 PARN PLEC PML POLG POLG2 PRKAR1A PRKG1 PYGM RAPSN RARA RRM2B RTEL1 SCN4A SFTPA1 SFTPA2 SFTPC SH2B3 SLC25A4 SLC34A2 SMAD2 SMAD3 SMAD4 STAT3 STAT5B STN1 SURF1 TBL1XR1 TBX20 TERC TERT TGFB2 TGFB3 TGFBR1 TGFBR2 TLL1 TNNC1 TRMT5 TRNN TRNS1 TWNK VCL ZBTB16 ZMPSTE24

Diseases (38) :ORPHA:2032 OMIM:610921 ORPHA:42 ORPHA:91387 ORPHA:99103 ORPHA:98913 OMIM:265400 ORPHA:520 ORPHA:99105 ORPHA:436271 ORPHA:98915 OMIM:614370 ORPHA:621 OMIM:250800 ORPHA:352470 OMIM:615156 ORPHA:199241 OMIM:187300 ORPHA:90042 ORPHA:263297 OMIM:133100 OMIM:181350 ORPHA:740 OMIM:178500 ORPHA:229 OMIM:255160 OMIM:608751 ORPHA:399103 ORPHA:254361 ORPHA:254892 ORPHA:615 ORPHA:368 ORPHA:60025 OMIM:220110 ORPHA:99106 OMIM:613243 OMIM:616539 OMIM:613255

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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