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:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.	123
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	253
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	56
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility	.	12
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	11
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6		18
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent	3
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.	38
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	105
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	23
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	8
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101	.	3
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	119
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	69
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	80
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent	148
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent	730
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67		93
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77		278
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040283 - Occasional	25
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.	91
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11	.	516
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94		34
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	81
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	62
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility	.	78
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	65
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.	271
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	20
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	63
HP:0008619	HP:0008619	Bilateral sensorineural hearing impairment	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2