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:0000011	HP:0000011	Neurogenic bladder	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000011	HP:0000011	Neurogenic bladder	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000011	HP:0000011	Neurogenic bladder	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent	100
HP:0000011	HP:0000011	Neurogenic bladder	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional	14
HP:0000011	HP:0000011	Neurogenic bladder	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional	14
HP:0000011	HP:0000011	Neurogenic bladder	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional	14
HP:0000011	HP:0000011	Neurogenic bladder	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0000011	HP:0000011	Neurogenic bladder	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0000011	HP:0000011	Neurogenic bladder	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000011	HP:0000011	Neurogenic bladder	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2	.	3
HP:0000011	HP:0000011	Neurogenic bladder	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000011	HP:0000011	Neurogenic bladder	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0000011	HP:0000011	Neurogenic bladder	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0000011	HP:0000011	Neurogenic bladder	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000011	HP:0000011	Neurogenic bladder	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0000011	HP:0000011	Neurogenic bladder	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0000011	HP:0000011	Neurogenic bladder	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	3
HP:0000011	HP:0000011	Neurogenic bladder	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0000011	HP:0000011	Neurogenic bladder	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0000011	HP:0000011	Neurogenic bladder	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0000011	HP:0000011	Neurogenic bladder	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0000011	HP:0000011	Neurogenic bladder	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0000011	HP:0000011	Neurogenic bladder	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent	86
HP:0000011	HP:0000011	Neurogenic bladder	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0000011	HP:0000011	Neurogenic bladder	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0000011	HP:0000011	Neurogenic bladder	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0000011	HP:0000011	Neurogenic bladder	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000011	HP:0000011	Neurogenic bladder	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0000011	HP:0000011	Neurogenic bladder	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0000011	HP:0000011	Neurogenic bladder	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0000011	HP:0000011	Neurogenic bladder	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0000011	HP:0000011	Neurogenic bladder	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000011	HP:0000011	Neurogenic bladder	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27	.	29
HP:0000011	HP:0000011	Neurogenic bladder	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0000011	HP:0000011	Neurogenic bladder	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0000011	HP:0000011	Neurogenic bladder	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0000011	HP:0000011	Neurogenic bladder	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	88
HP:0000011	HP:0000011	Neurogenic bladder	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0000011	HP:0000011	Neurogenic bladder	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare	16
HP:0000011	HP:0000011	Neurogenic bladder	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0000011	HP:0000011	Neurogenic bladder	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional	2
HP:0000011	HP:0000011	Neurogenic bladder	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0000011	HP:0000011	Neurogenic bladder	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0000011	HP:0000011	Neurogenic bladder	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0000011	HP:0000011	Neurogenic bladder	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389