Human Phenotype Ontology

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:0009025	HP:0009025	Increased connective tissue	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.	96
HP:0009025	HP:0009025	Increased connective tissue	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0009025	HP:0009025	Increased connective tissue	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent	60
HP:0009025	HP:0009025	Increased connective tissue	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy		12
HP:0009025	HP:0009025	Increased connective tissue	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0009025	HP:0009025	Increased connective tissue	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0009025	HP:0009025	Increased connective tissue	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0009025	HP:0009025	Increased connective tissue	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0009025	HP:0009025	Increased connective tissue	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0009025	HP:0009025	Increased connective tissue	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0009025	HP:0009025	Increased connective tissue	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0009025	HP:0009025	Increased connective tissue	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411
HP:0009025	HP:0009025	Increased connective tissue	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W	.	10
HP:0009025	HP:0009025	Increased connective tissue	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy		7
HP:0009025	HP:0009025	Increased connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0009025	HP:0009025	Increased connective tissue	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0009025	HP:0009025	Increased connective tissue	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009025	HP:0009025	Increased connective tissue	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0009025	HP:0009025	Increased connective tissue	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0009025	HP:0009025	Increased connective tissue	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency		54
HP:0009025	HP:0009025	Increased connective tissue	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0009025	HP:0009025	Increased connective tissue	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional	118
HP:0009025	HP:0009025	Increased connective tissue	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency		65
HP:0009025	HP:0009025	Increased connective tissue	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0009025	HP:0009025	Increased connective tissue	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0009025	HP:0009025	Increased connective tissue	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency		27
HP:0009025	HP:0009025	Increased connective tissue	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0009025	HP:0009025	Increased connective tissue	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0009025	HP:0009025	Increased connective tissue	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0009025	HP:0009025	Increased connective tissue	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0009025	HP:0009025	Increased connective tissue	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	HP:0040283 - Occasional	134
HP:0009025	HP:0009025	Increased connective tissue	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0009025	HP:0009025	Increased connective tissue	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41
HP:0009025	HP:0009126	Increased adipose tissue	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy		12
HP:0009025	HP:0009126	Increased adipose tissue	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0009025	HP:0009126	Increased adipose tissue	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0009025	HP:0009126	Increased adipose tissue	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy		7
HP:0009025	HP:0009126	Increased adipose tissue	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0009025	HP:0009126	Increased adipose tissue	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0009025	HP:0009126	Increased adipose tissue	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009025	HP:0009126	Increased adipose tissue	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040280 - Obligate	54
HP:0009025	HP:0009126	Increased adipose tissue	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040280 - Obligate	65
HP:0009025	HP:0009126	Increased adipose tissue	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0009025	HP:0009126	Increased adipose tissue	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040280 - Obligate	27
HP:0009025	HP:0009126	Increased adipose tissue	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0009025	HP:0100695	Lipedema	2	CL E G H
HP:0009025	HP:0008993	Increased intraabdominal fat	2	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0009025	HP:0008985	Increased intramuscular fat	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0009025	HP:0000468	Increased adipose tissue around the neck	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate	7
HP:0009025	HP:0008993	Increased intraabdominal fat	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0009025	HP:0008993	Increased intraabdominal fat	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0009025	HP:0000468	Increased adipose tissue around the neck	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0009025	HP:0000468	Increased adipose tissue around the neck	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0009025	HP:0008993	Increased intraabdominal fat	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0009025	HP:0008985	Increased intramuscular fat	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0009025	HP:0000468	Increased adipose tissue around the neck	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009025	HP:0009003	Increased subcutaneous truncal adipose tissue	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138