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:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5		141
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6		143
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8		111
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant		111
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040281 - Very frequent	111
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0003204	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2		203
HP:0003204	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0003204	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0003204	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0003204	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0003204	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0003204	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.	143
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.	143
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.	111
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.	111
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0003204	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0003204	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0003204	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0003204	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	.	106
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0003204	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.	203
HP:0003204	HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82