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:0010832	HP:0010832	Abnormality of pain sensation	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0010832	HP:0010832	Abnormality of pain sensation	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4		60
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent	89
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0010832	HP:0010832	Abnormality of pain sensation	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0010832	HP:0010832	Abnormality of pain sensation	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0010832	HP:0010832	Abnormality of pain sensation	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0010832	HP:0010832	Abnormality of pain sensation	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder		405
HP:0010832	HP:0010832	Abnormality of pain sensation	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0010832	HP:0010832	Abnormality of pain sensation	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010832	HP:0010832	Abnormality of pain sensation	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010832	HP:0010832	Abnormality of pain sensation	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0010832	HP:0010832	Abnormality of pain sensation	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28		35
HP:0010832	HP:0010832	Abnormality of pain sensation	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent	33
HP:0010832	HP:0010832	Abnormality of pain sensation	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0010832	HP:0010832	Abnormality of pain sensation	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0010832	HP:0010832	Abnormality of pain sensation	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010832	HP:0010832	Abnormality of pain sensation	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010832	HP:0010832	Abnormality of pain sensation	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0010832	HP:0010832	Abnormality of pain sensation	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent	7
HP:0010832	HP:0010832	Abnormality of pain sensation	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome		1361
HP:0010832	HP:0010832	Abnormality of pain sensation	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0010832	HP:0010832	Abnormality of pain sensation	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0010832	HP:0010832	Abnormality of pain sensation	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome		5
HP:0010832	HP:0010832	Abnormality of pain sensation	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0010832	HP:0010832	Abnormality of pain sensation	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0010832	HP:0010832	Abnormality of pain sensation	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0010832	HP:0010832	Abnormality of pain sensation	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0010832	HP:0010832	Abnormality of pain sensation	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1		107
HP:0010832	HP:0010832	Abnormality of pain sensation	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0010832	HP:0010832	Abnormality of pain sensation	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0010832	HP:0010832	Abnormality of pain sensation	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0010832	HP:0010832	Abnormality of pain sensation	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0010832	HP:0010832	Abnormality of pain sensation	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0010832	HP:0010832	Abnormality of pain sensation	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0010832	HP:0010832	Abnormality of pain sensation	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0010832	HP:0010832	Abnormality of pain sensation	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0010832	HP:0010832	Abnormality of pain sensation	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0010832	HP:0010832	Abnormality of pain sensation	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F		47
HP:0010832	HP:0010832	Abnormality of pain sensation	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0010832	HP:0010832	Abnormality of pain sensation	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0010832	HP:0010832	Abnormality of pain sensation	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0010832	Abnormality of pain sensation	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0010832	HP:0010832	Abnormality of pain sensation	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0010832	HP:0010832	Abnormality of pain sensation	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0010832	HP:0010832	Abnormality of pain sensation	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0010832	HP:0010832	Abnormality of pain sensation	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0010832	HP:0010832	Abnormality of pain sensation	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0010832	HP:0010832	Abnormality of pain sensation	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0010832	HP:0010832	Abnormality of pain sensation	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome		950
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	462
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0010832	HP:0010832	Abnormality of pain sensation	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		20
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria		217
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome		1
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		97
HP:0010832	HP:0010832	Abnormality of pain sensation	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome		69
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5		49
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0010832	Abnormality of pain sensation	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0010832	Abnormality of pain sensation	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0010832	HP:0010832	Abnormality of pain sensation	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0010832	HP:0010832	Abnormality of pain sensation	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma		1
HP:0010832	HP:0010832	Abnormality of pain sensation	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SCN10A CL E G H	6336	10582	OMIM:615551	EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2		146
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII		19
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder		318
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome		135
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0010832	HP:0010832	Abnormality of pain sensation	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040281 - Very frequent	108
HP:0010832	HP:0010832	Abnormality of pain sensation	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1		52
HP:0010832	HP:0010832	Abnormality of pain sensation	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0010832	HP:0010832	Abnormality of pain sensation	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0010832	HP:0010832	Abnormality of pain sensation	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0010832	HP:0010832	Abnormality of pain sensation	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder		1
HP:0010832	HP:0010832	Abnormality of pain sensation	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0010832	HP:0010832	Abnormality of pain sensation	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0010832	HP:0010832	Abnormality of pain sensation	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	7
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0010832	HP:0010832	Abnormality of pain sensation	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0010832	HP:0007328	Impaired pain sensation	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0010832	HP:0012534	Dysesthesia	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0010832	HP:0007328	Impaired pain sensation	1	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040282 - Frequent	60
HP:0010832	HP:0012534	Dysesthesia	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0010832	HP:0010834	Trophic changes related to pain	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0010832	HP:0007328	Impaired pain sensation	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0010832	HP:0010834	Trophic changes related to pain	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0010832	HP:0007328	Impaired pain sensation	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0010832	HP:0010833	Spontaneous pain sensation	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0010832	HP:0007328	Impaired pain sensation	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0010832	HP:0010833	Spontaneous pain sensation	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0010832	HP:0007328	Impaired pain sensation	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent	56
HP:0010832	HP:0007328	Impaired pain sensation	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0010832	HP:0007328	Impaired pain sensation	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0010832	HP:0007328	Impaired pain sensation	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0010832	HP:0012534	Dysesthesia	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010832	HP:0012534	Dysesthesia	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0010832	HP:0007328	Impaired pain sensation	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0010832	HP:0007328	Impaired pain sensation	1	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28		35
HP:0010832	HP:0007328	Impaired pain sensation	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0010832	HP:0012534	Dysesthesia	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0010832	HP:0007328	Impaired pain sensation	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010832	HP:0012534	Dysesthesia	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0010832	HP:0007328	Impaired pain sensation	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0010832	HP:0007328	Impaired pain sensation	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0010832	HP:0007328	Impaired pain sensation	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional	1361
HP:0010832	HP:0007328	Impaired pain sensation	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0010832	HP:0012534	Dysesthesia	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0010832	HP:0007328	Impaired pain sensation	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0010832	HP:0012534	Dysesthesia	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	139
HP:0010832	HP:0007328	Impaired pain sensation	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0010832	HP:0007328	Impaired pain sensation	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0010832	HP:0007328	Impaired pain sensation	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0010832	HP:0007328	Impaired pain sensation	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040282 - Frequent	107
HP:0010832	HP:0007328	Impaired pain sensation	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0010832	HP:0012534	Dysesthesia	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	434
HP:0010832	HP:0007328	Impaired pain sensation	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	4
HP:0010832	HP:0007328	Impaired pain sensation	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0010832	HP:0007328	Impaired pain sensation	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0010832	HP:0007328	Impaired pain sensation	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0010832	HP:0007328	Impaired pain sensation	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040283 - Occasional	11
HP:0010832	HP:0007328	Impaired pain sensation	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0010832	HP:0007328	Impaired pain sensation	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0010832	HP:0007328	Impaired pain sensation	1	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0010832	HP:0007328	Impaired pain sensation	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0010832	HP:0007328	Impaired pain sensation	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	9
HP:0010832	HP:0007328	Impaired pain sensation	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0007328	Impaired pain sensation	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0010832	HP:0007328	Impaired pain sensation	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0010832	HP:0007328	Impaired pain sensation	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	1
HP:0010832	HP:0007328	Impaired pain sensation	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0010832	HP:0002661	Painless fractures due to injury	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0010832	HP:0007328	Impaired pain sensation	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0010832	HP:0007328	Impaired pain sensation	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0010832	HP:0007328	Impaired pain sensation	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0010832	HP:0007328	Impaired pain sensation	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0010832	HP:0007328	Impaired pain sensation	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0010832	HP:0007328	Impaired pain sensation	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0010832	HP:0007328	Impaired pain sensation	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0010832	HP:0007328	Impaired pain sensation	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0010832	HP:0007328	Impaired pain sensation	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010832	HP:0007328	Impaired pain sensation	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0010832	HP:0007328	Impaired pain sensation	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0010832	HP:0007328	Impaired pain sensation	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0002661	Painless fractures due to injury	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0010832	HP:0007328	Impaired pain sensation	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0010832	HP:0007328	Impaired pain sensation	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0010832	HP:0007328	Impaired pain sensation	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0010832	HP:0007328	Impaired pain sensation	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0010832	HP:0002661	Painless fractures due to injury	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0010832	HP:0007328	Impaired pain sensation	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		20
HP:0010832	HP:0007328	Impaired pain sensation	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	.	20
HP:0010832	HP:0002661	Painless fractures due to injury	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	.	20
HP:0010832	HP:0007328	Impaired pain sensation	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010832	HP:0012534	Dysesthesia	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0010832	HP:0007328	Impaired pain sensation	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0010832	HP:0007328	Impaired pain sensation	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0010832	HP:0002661	Painless fractures due to injury	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0010832	HP:0010834	Trophic changes related to pain	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0010832	HP:0007328	Impaired pain sensation	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0010832	HP:0007328	Impaired pain sensation	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		97
HP:0010832	HP:0002661	Painless fractures due to injury	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0010832	HP:0007328	Impaired pain sensation	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0010832	HP:0012534	Dysesthesia	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0010832	HP:0007328	Impaired pain sensation	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0010832	HP:0012534	Dysesthesia	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0010832	HP:0010833	Spontaneous pain sensation	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional	79
HP:0010832	HP:0007328	Impaired pain sensation	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0010832	HP:0007328	Impaired pain sensation	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0010832	HP:0007328	Impaired pain sensation	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0010832	HP:0007328	Impaired pain sensation	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0010832	HP:0012534	Dysesthesia	1	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040281 - Very frequent	69
HP:0010832	HP:0007328	Impaired pain sensation	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040282 - Frequent	49
HP:0010832	HP:0010833	Spontaneous pain sensation	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0010832	HP:0007328	Impaired pain sensation	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0007328	Impaired pain sensation	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0007328	Impaired pain sensation	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0010832	HP:0007328	Impaired pain sensation	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0010832	HP:0012534	Dysesthesia	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040283 - Occasional	1
HP:0010832	HP:0002661	Painless fractures due to injury	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0010832	HP:0012534	Dysesthesia	1	SCN10A CL E G H	6336	10582	OMIM:615551	EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2		146
HP:0010832	HP:0007328	Impaired pain sensation	1	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII		19
HP:0010832	HP:0010833	Spontaneous pain sensation	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0010832	HP:0002661	Painless fractures due to injury	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0010832	HP:0007328	Impaired pain sensation	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0010832	HP:0002661	Painless fractures due to injury	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0010832	HP:0007328	Impaired pain sensation	1	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.	318
HP:0010832	HP:0012534	Dysesthesia	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0010832	HP:0007328	Impaired pain sensation	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0010832	HP:0007328	Impaired pain sensation	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent	53
HP:0010832	HP:0007328	Impaired pain sensation	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010832	HP:0007328	Impaired pain sensation	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0010832	HP:0007328	Impaired pain sensation	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0007328	Impaired pain sensation	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0010832	HP:0007328	Impaired pain sensation	1	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0010832	HP:0007328	Impaired pain sensation	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0010832	HP:0010834	Trophic changes related to pain	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0010832	HP:0010834	Trophic changes related to pain	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0010832	HP:0007328	Impaired pain sensation	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0010832	HP:0012534	Dysesthesia	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.	149
HP:0010832	HP:0007328	Impaired pain sensation	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0010832	HP:0012534	Dysesthesia	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	50
HP:0010832	HP:0007328	Impaired pain sensation	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1		52
HP:0010832	HP:0007328	Impaired pain sensation	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0010832	HP:0007328	Impaired pain sensation	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0010832	HP:0007328	Impaired pain sensation	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0010832	HP:0007328	Impaired pain sensation	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional	1
HP:0010832	HP:0007328	Impaired pain sensation	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0010832	HP:0002661	Painless fractures due to injury	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0010832	HP:0007328	Impaired pain sensation	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0010832	HP:0007328	Impaired pain sensation	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0010832	HP:0002661	Painless fractures due to injury	1	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0010832	HP:0007328	Impaired pain sensation	1	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0010832	HP:0012534	Dysesthesia	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040283 - Occasional
HP:0010832	HP:0007021	Pain insensitivity	2	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0010832	HP:0007021	Pain insensitivity	2	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0010832	HP:0007021	Pain insensitivity	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0010832	HP:0007021	Pain insensitivity	2	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent	35
HP:0010832	HP:0007021	Pain insensitivity	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010832	HP:0007021	Pain insensitivity	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0010832	HP:0007021	Pain insensitivity	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0010832	HP:0007021	Pain insensitivity	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0010832	HP:0007021	Pain insensitivity	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0010832	HP:0007021	Pain insensitivity	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0010832	HP:0007021	Pain insensitivity	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010832	HP:0007021	Pain insensitivity	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0010832	HP:0007021	Pain insensitivity	2	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0010832	HP:0007021	Pain insensitivity	2	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0010832	HP:0007021	Pain insensitivity	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010832	HP:0003091	Trophic limb changes	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0010832	HP:0007021	Pain insensitivity	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0010832	HP:0007021	Pain insensitivity	2	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0010832	HP:0007021	Pain insensitivity	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0010832	HP:0007021	Pain insensitivity	2	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0010832	HP:0007021	Pain insensitivity	2	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0010832	HP:0007021	Pain insensitivity	2	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0010832	HP:0007021	Pain insensitivity	2	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0010832	HP:0007021	Pain insensitivity	2	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0010832	HP:0007021	Pain insensitivity	2	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0010832	HP:0007021	Pain insensitivity	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0010832	HP:0007021	Pain insensitivity	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0010832	HP:0007021	Pain insensitivity	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0010832	HP:0007021	Pain insensitivity	2	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome