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:0002476	HP:0002476	Primitive reflex	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0002476	HP:0002476	Primitive reflex	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0002476	HP:0002476	Primitive reflex	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0002476	HP:0002476	Primitive reflex	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	166	4367	613109
HP:0002476	HP:0002476	Primitive reflex	0	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0002476	HP:0002476	Primitive reflex	0	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0002476	HP:0002476	Primitive reflex	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0002476	HP:0002476	Primitive reflex	0	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0002476	HP:0002476	Primitive reflex	0	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0002476	HP:0002476	Primitive reflex	0	SPG21 CL E G H	51324	101001				ORPHA	1	145	20373	608181
HP:0002476	HP:0002476	Primitive reflex	0	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	275	10866	606494
HP:0002476	HP:0002476	Primitive reflex	0	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002476	HP:0030904	Glabellar reflex	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0002476	HP:0030905	Snout reflex	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0002476	HP:0030902	Palmomental reflex	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0002476	HP:0030903	Grasp reflex	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0002476	HP:0030906	Suck reflex	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0002476	HP:0030903	Grasp reflex	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0002476	HP:0030906	Suck reflex	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0002476	HP:0030905	Snout reflex	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0002476	HP:0030904	Glabellar reflex	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0002476	HP:0030902	Palmomental reflex	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0002476	HP:0030902	Palmomental reflex	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0002476	HP:0030906	Suck reflex	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0002476	HP:0030903	Grasp reflex	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0002476	HP:0030904	Glabellar reflex	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0002476	HP:0030905	Snout reflex	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0002476	HP:0030902	Palmomental reflex	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	166	4367	613109
HP:0002476	HP:0030906	Suck reflex	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	166	4367	613109
HP:0002476	HP:0030903	Grasp reflex	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	166	4367	613109
HP:0002476	HP:0030905	Snout reflex	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	166	4367	613109
HP:0002476	HP:0030904	Glabellar reflex	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	166	4367	613109
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	166	4367	613109
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0002476	HP:0030902	Palmomental reflex	1	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0002476	HP:0030903	Grasp reflex	1	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0002476	HP:0030906	Suck reflex	1	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0002476	HP:0030904	Glabellar reflex	1	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0002476	HP:0030905	Snout reflex	1	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0002476	HP:0030903	Grasp reflex	1	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0002476	HP:0030906	Suck reflex	1	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0002476	HP:0030905	Snout reflex	1	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0002476	HP:0030904	Glabellar reflex	1	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0002476	HP:0030902	Palmomental reflex	1	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0002476	HP:0030904	Glabellar reflex	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0002476	HP:0030905	Snout reflex	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0002476	HP:0030902	Palmomental reflex	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0002476	HP:0030903	Grasp reflex	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0002476	HP:0030906	Suck reflex	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0002476	HP:0030904	Glabellar reflex	1	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0002476	HP:0030905	Snout reflex	1	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0002476	HP:0030902	Palmomental reflex	1	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0002476	HP:0030903	Grasp reflex	1	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0002476	HP:0030906	Suck reflex	1	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0002476	HP:0030902	Palmomental reflex	1	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0002476	HP:0030903	Grasp reflex	1	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0002476	HP:0030906	Suck reflex	1	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0002476	HP:0030904	Glabellar reflex	1	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0002476	HP:0030905	Snout reflex	1	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0002476	HP:0030904	Glabellar reflex	1	SPG21 CL E G H	51324	101001				ORPHA	1	145	20373	608181
HP:0002476	HP:0030905	Snout reflex	1	SPG21 CL E G H	51324	101001				ORPHA	1	145	20373	608181
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	SPG21 CL E G H	51324	101001				ORPHA	1	145	20373	608181
HP:0002476	HP:0030902	Palmomental reflex	1	SPG21 CL E G H	51324	101001				ORPHA	1	145	20373	608181
HP:0002476	HP:0030903	Grasp reflex	1	SPG21 CL E G H	51324	101001				ORPHA	1	145	20373	608181
HP:0002476	HP:0030906	Suck reflex	1	SPG21 CL E G H	51324	101001				ORPHA	1	145	20373	608181
HP:0002476	HP:0030902	Palmomental reflex	1	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	275	10866	606494
HP:0002476	HP:0030903	Grasp reflex	1	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	275	10866	606494
HP:0002476	HP:0030906	Suck reflex	1	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	275	10866	606494
HP:0002476	HP:0030904	Glabellar reflex	1	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	275	10866	606494
HP:0002476	HP:0030905	Snout reflex	1	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	275	10866	606494
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	275	10866	606494
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002476	HP:0030902	Palmomental reflex	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002476	HP:0030906	Suck reflex	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002476	HP:0030903	Grasp reflex	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002476	HP:0030904	Glabellar reflex	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002476	HP:0030905	Snout reflex	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002476	HP:0002476	Primitive reflex	0	ALDH18A1 CL E G H	5832	447760				ORPHA	0	437	9722	138250
HP:0002476	HP:0002476	Primitive reflex	0	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002476	HP:0002476	Primitive reflex	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	630	4801	600890
HP:0002476	HP:0002476	Primitive reflex	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	263	4803	143450
HP:0002476	HP:0002476	Primitive reflex	0	JPH3 CL E G H	57338	98934				ORPHA	0	125	14203	605268
HP:0002476	HP:0002476	Primitive reflex	0	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	0	145	20373	608181
HP:0002476	HP:0030902	Palmomental reflex	1	ALDH18A1 CL E G H	5832	447760				ORPHA	0	437	9722	138250
HP:0002476	HP:0030903	Grasp reflex	1	ALDH18A1 CL E G H	5832	447760				ORPHA	0	437	9722	138250
HP:0002476	HP:0030906	Suck reflex	1	ALDH18A1 CL E G H	5832	447760				ORPHA	0	437	9722	138250
HP:0002476	HP:0030904	Glabellar reflex	1	ALDH18A1 CL E G H	5832	447760				ORPHA	0	437	9722	138250
HP:0002476	HP:0030905	Snout reflex	1	ALDH18A1 CL E G H	5832	447760				ORPHA	0	437	9722	138250
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	ALDH18A1 CL E G H	5832	447760				ORPHA	0	437	9722	138250
HP:0002476	HP:0030903	Grasp reflex	1	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002476	HP:0030906	Suck reflex	1	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002476	HP:0030904	Glabellar reflex	1	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002476	HP:0030905	Snout reflex	1	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002476	HP:0030902	Palmomental reflex	1	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0002476	HP:0030903	Grasp reflex	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	630	4801	600890
HP:0002476	HP:0030906	Suck reflex	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	630	4801	600890
HP:0002476	HP:0030904	Glabellar reflex	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	630	4801	600890
HP:0002476	HP:0030905	Snout reflex	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	630	4801	600890
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	630	4801	600890
HP:0002476	HP:0030902	Palmomental reflex	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	630	4801	600890
HP:0002476	HP:0030902	Palmomental reflex	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	263	4803	143450
HP:0002476	HP:0030906	Suck reflex	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	263	4803	143450
HP:0002476	HP:0030903	Grasp reflex	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	263	4803	143450
HP:0002476	HP:0030905	Snout reflex	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	263	4803	143450
HP:0002476	HP:0030904	Glabellar reflex	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	263	4803	143450
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	263	4803	143450
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	JPH3 CL E G H	57338	98934				ORPHA	0	125	14203	605268
HP:0002476	HP:0030902	Palmomental reflex	1	JPH3 CL E G H	57338	98934				ORPHA	0	125	14203	605268
HP:0002476	HP:0030903	Grasp reflex	1	JPH3 CL E G H	57338	98934				ORPHA	0	125	14203	605268
HP:0002476	HP:0030906	Suck reflex	1	JPH3 CL E G H	57338	98934				ORPHA	0	125	14203	605268
HP:0002476	HP:0030904	Glabellar reflex	1	JPH3 CL E G H	57338	98934				ORPHA	0	125	14203	605268
HP:0002476	HP:0030905	Snout reflex	1	JPH3 CL E G H	57338	98934				ORPHA	0	125	14203	605268
HP:0002476	HP:0030903	Grasp reflex	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	0	145	20373	608181
HP:0002476	HP:0030906	Suck reflex	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	0	145	20373	608181
HP:0002476	HP:0030904	Glabellar reflex	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	0	145	20373	608181
HP:0002476	HP:0030905	Snout reflex	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	0	145	20373	608181
HP:0002476	HP:0032549	Persistent asymmetrical tonic neck reflex	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	0	145	20373	608181
HP:0002476	HP:0030902	Palmomental reflex	1	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	0	145	20373	608181