Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003674	HP:0003674	Onset	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0003674	Onset	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0003674	Onset	0	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003674	Onset	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0003674	Onset	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003674	Onset	0	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0003674	Onset	0	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0003674	Onset	0	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0003674	Onset	0	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003674	Onset	0	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0003674	Onset	0	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003674	Onset	0	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0003674	Onset	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0003674	Onset	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003674	Onset	0	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0003674	Onset	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003674	Onset	0	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0003674	Onset	0	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0003674	Onset	0	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003674	Onset	0	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0003674	Onset	0	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0003674	Onset	0	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0410280	Pediatric onset	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:4000040	Puerpural onset	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0030674	Antenatal onset	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0003623	Neonatal onset	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0003581	Adult onset	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0003577	Congenital onset	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0410280	Pediatric onset	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:4000040	Puerpural onset	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0003581	Adult onset	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0030674	Antenatal onset	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0003623	Neonatal onset	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0003577	Congenital onset	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0410280	Pediatric onset	1	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:4000040	Puerpural onset	1	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003581	Adult onset	1	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0030674	Antenatal onset	1	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003623	Neonatal onset	1	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003577	Congenital onset	1	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003623	Neonatal onset	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0003581	Adult onset	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0030674	Antenatal onset	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0003577	Congenital onset	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0410280	Pediatric onset	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:4000040	Puerpural onset	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0030674	Antenatal onset	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003623	Neonatal onset	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003581	Adult onset	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003577	Congenital onset	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0410280	Pediatric onset	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:4000040	Puerpural onset	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003581	Adult onset	1	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0030674	Antenatal onset	1	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0003623	Neonatal onset	1	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0003577	Congenital onset	1	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0410280	Pediatric onset	1	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:4000040	Puerpural onset	1	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0410280	Pediatric onset	1	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:4000040	Puerpural onset	1	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0003581	Adult onset	1	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0030674	Antenatal onset	1	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0003623	Neonatal onset	1	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0003577	Congenital onset	1	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0003577	Congenital onset	1	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0410280	Pediatric onset	1	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:4000040	Puerpural onset	1	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0030674	Antenatal onset	1	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0003623	Neonatal onset	1	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0003581	Adult onset	1	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0410280	Pediatric onset	1	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:4000040	Puerpural onset	1	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0030674	Antenatal onset	1	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003623	Neonatal onset	1	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003581	Adult onset	1	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003577	Congenital onset	1	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:4000040	Puerpural onset	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0410280	Pediatric onset	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0003581	Adult onset	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0030674	Antenatal onset	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0003623	Neonatal onset	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0003577	Congenital onset	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0410280	Pediatric onset	1	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:4000040	Puerpural onset	1	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003581	Adult onset	1	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0030674	Antenatal onset	1	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003623	Neonatal onset	1	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003577	Congenital onset	1	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003577	Congenital onset	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:4000040	Puerpural onset	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0410280	Pediatric onset	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0003581	Adult onset	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0030674	Antenatal onset	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0003623	Neonatal onset	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0003577	Congenital onset	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0410280	Pediatric onset	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:4000040	Puerpural onset	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0003623	Neonatal onset	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0003581	Adult onset	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0030674	Antenatal onset	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0410280	Pediatric onset	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:4000040	Puerpural onset	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003623	Neonatal onset	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003581	Adult onset	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0030674	Antenatal onset	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003577	Congenital onset	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003577	Congenital onset	1	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:4000040	Puerpural onset	1	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0410280	Pediatric onset	1	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0003581	Adult onset	1	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0030674	Antenatal onset	1	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0003623	Neonatal onset	1	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0410280	Pediatric onset	1	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:4000040	Puerpural onset	1	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0030674	Antenatal onset	1	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003623	Neonatal onset	1	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003581	Adult onset	1	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003577	Congenital onset	1	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003581	Adult onset	1	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0030674	Antenatal onset	1	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0003623	Neonatal onset	1	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0003577	Congenital onset	1	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0410280	Pediatric onset	1	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:4000040	Puerpural onset	1	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0003581	Adult onset	1	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0030674	Antenatal onset	1	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0003623	Neonatal onset	1	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0003577	Congenital onset	1	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:4000040	Puerpural onset	1	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0410280	Pediatric onset	1	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0410280	Pediatric onset	1	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:4000040	Puerpural onset	1	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003623	Neonatal onset	1	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003581	Adult onset	1	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0030674	Antenatal onset	1	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003577	Congenital onset	1	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003581	Adult onset	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0030674	Antenatal onset	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0003623	Neonatal onset	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0003577	Congenital onset	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0410280	Pediatric onset	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:4000040	Puerpural onset	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:4000040	Puerpural onset	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0410280	Pediatric onset	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0003581	Adult onset	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0030674	Antenatal onset	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0003623	Neonatal onset	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0003577	Congenital onset	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0003577	Congenital onset	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0410280	Pediatric onset	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:4000040	Puerpural onset	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0003581	Adult onset	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0030674	Antenatal onset	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0003623	Neonatal onset	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0003584	Late onset	2	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0011460	Embryonal onset	2	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0003621	Juvenile onset	2	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0011462	Young adult onset	2	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0003593	Infantile onset	2	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0003596	Middle age onset	2	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0011461	Fetal onset	2	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0011463	Childhood onset	2	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	529	15868	613599
HP:0003674	HP:0003584	Late onset	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0011460	Embryonal onset	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0003621	Juvenile onset	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0011462	Young adult onset	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0003593	Infantile onset	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0003596	Middle age onset	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0011461	Fetal onset	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0011463	Childhood onset	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003674	HP:0003596	Middle age onset	2	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0011461	Fetal onset	2	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0011463	Childhood onset	2	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003584	Late onset	2	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0011460	Embryonal onset	2	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003621	Juvenile onset	2	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0011462	Young adult onset	2	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003593	Infantile onset	2	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	510	15832	606158
HP:0003674	HP:0003621	Juvenile onset	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0003593	Infantile onset	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0011462	Young adult onset	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0011461	Fetal onset	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0011463	Childhood onset	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0003596	Middle age onset	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0003584	Late onset	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0011460	Embryonal onset	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0003674	HP:0003621	Juvenile onset	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0011462	Young adult onset	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003593	Infantile onset	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003596	Middle age onset	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0011461	Fetal onset	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0011463	Childhood onset	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003584	Late onset	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0011460	Embryonal onset	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003674	HP:0003621	Juvenile onset	2	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0011462	Young adult onset	2	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0003593	Infantile onset	2	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0003596	Middle age onset	2	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0011461	Fetal onset	2	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0011463	Childhood onset	2	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0003584	Late onset	2	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0011460	Embryonal onset	2	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	703	2591	610613
HP:0003674	HP:0003584	Late onset	2	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0011460	Embryonal onset	2	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0003621	Juvenile onset	2	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0003593	Infantile onset	2	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0011462	Young adult onset	2	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0011463	Childhood onset	2	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0003596	Middle age onset	2	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0011461	Fetal onset	2	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003674	HP:0011462	Young adult onset	2	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0003593	Infantile onset	2	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0003596	Middle age onset	2	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0011461	Fetal onset	2	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0011463	Childhood onset	2	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0011460	Embryonal onset	2	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0003584	Late onset	2	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0003621	Juvenile onset	2	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003674	HP:0011460	Embryonal onset	2	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003584	Late onset	2	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003621	Juvenile onset	2	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0011462	Young adult onset	2	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003593	Infantile onset	2	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0011461	Fetal onset	2	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0011463	Childhood onset	2	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003596	Middle age onset	2	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2591	16636	605995
HP:0003674	HP:0003596	Middle age onset	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0011461	Fetal onset	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0011463	Childhood onset	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0003584	Late onset	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0011460	Embryonal onset	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0003621	Juvenile onset	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0011462	Young adult onset	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0003593	Infantile onset	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003674	HP:0011463	Childhood onset	2	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003596	Middle age onset	2	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0011461	Fetal onset	2	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003584	Late onset	2	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0011460	Embryonal onset	2	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003621	Juvenile onset	2	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003593	Infantile onset	2	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0011462	Young adult onset	2	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003674	HP:0003593	Infantile onset	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0011462	Young adult onset	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0011463	Childhood onset	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0003596	Middle age onset	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0011461	Fetal onset	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0003584	Late onset	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0011460	Embryonal onset	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0003621	Juvenile onset	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003674	HP:0003593	Infantile onset	2	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0011462	Young adult onset	2	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0011461	Fetal onset	2	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0011463	Childhood onset	2	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0003596	Middle age onset	2	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0003584	Late onset	2	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0011460	Embryonal onset	2	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0003621	Juvenile onset	2	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0003674	HP:0011460	Embryonal onset	2	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003584	Late onset	2	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003621	Juvenile onset	2	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003593	Infantile onset	2	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0011462	Young adult onset	2	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0011461	Fetal onset	2	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0011463	Childhood onset	2	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0003596	Middle age onset	2	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0003674	HP:0011462	Young adult onset	2	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0003593	Infantile onset	2	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0003596	Middle age onset	2	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0011461	Fetal onset	2	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0011463	Childhood onset	2	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0003584	Late onset	2	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0011460	Embryonal onset	2	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0003621	Juvenile onset	2	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0003674	HP:0003596	Middle age onset	2	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0011461	Fetal onset	2	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0011463	Childhood onset	2	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0011460	Embryonal onset	2	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003584	Late onset	2	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003621	Juvenile onset	2	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0011462	Young adult onset	2	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003593	Infantile onset	2	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0003674	HP:0003621	Juvenile onset	2	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0011462	Young adult onset	2	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0003593	Infantile onset	2	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0003596	Middle age onset	2	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0011461	Fetal onset	2	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0011463	Childhood onset	2	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0003584	Late onset	2	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0011460	Embryonal onset	2	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0003674	HP:0003621	Juvenile onset	2	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0003593	Infantile onset	2	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0011462	Young adult onset	2	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0011463	Childhood onset	2	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0003596	Middle age onset	2	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0011461	Fetal onset	2	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0003584	Late onset	2	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0011460	Embryonal onset	2	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	131	11020	604217
HP:0003674	HP:0011463	Childhood onset	2	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003596	Middle age onset	2	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0011461	Fetal onset	2	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003584	Late onset	2	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0011460	Embryonal onset	2	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003621	Juvenile onset	2	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003593	Infantile onset	2	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0011462	Young adult onset	2	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0003674	HP:0003621	Juvenile onset	2	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0011462	Young adult onset	2	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0003593	Infantile onset	2	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0003596	Middle age onset	2	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0011461	Fetal onset	2	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0011463	Childhood onset	2	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0003584	Late onset	2	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0011460	Embryonal onset	2	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	162	20373	608181
HP:0003674	HP:0003584	Late onset	2	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0011460	Embryonal onset	2	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0003621	Juvenile onset	2	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0011462	Young adult onset	2	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0003593	Infantile onset	2	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0003596	Middle age onset	2	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0011461	Fetal onset	2	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0011463	Childhood onset	2	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	938	11276	604985
HP:0003674	HP:0011462	Young adult onset	2	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0003593	Infantile onset	2	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0003596	Middle age onset	2	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0011461	Fetal onset	2	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0011463	Childhood onset	2	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0003584	Late onset	2	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0011460	Embryonal onset	2	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003674	HP:0003621	Juvenile onset	2	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HPO disease - gene - phenotype less frequent non-typical associations: