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:0008443	HP:0008443	Neuropathic spinal arthropathy	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.	108
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0008443	HP:0008443	Neuropathic spinal arthropathy	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2