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:0002371	HP:0002371	Loss of speech	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	543	21022	612035
HP:0002371	HP:0002371	Loss of speech	0	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	1492	61	300371
HP:0002371	HP:0002371	Loss of speech	0	ADAR CL E G H	103	51				ORPHA	1	1122	225	146920
HP:0002371	HP:0002371	Loss of speech	0	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	1122	225	146920
HP:0002371	HP:0002371	Loss of speech	0	ALS2 CL E G H	57679	247604				ORPHA	1	947	443	606352
HP:0002371	HP:0002371	Loss of speech	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0002371	HP:0002371	Loss of speech	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	510	15832	606158
HP:0002371	HP:0002371	Loss of speech	0	C9orf72 CL E G H	203228	275864				ORPHA	1	177	28337	614260
HP:0002371	HP:0002371	Loss of speech	0	CHMP2B CL E G H	25978	275864				ORPHA	1	160	24537	609512
HP:0002371	HP:0002371	Loss of speech	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	160	24537	609512
HP:0002371	HP:0002371	Loss of speech	0	ERLIN2 CL E G H	11160	247604				ORPHA	1	191	1356	611605
HP:0002371	HP:0002371	Loss of speech	0	GM2A CL E G H	2760	309246				ORPHA	1	212	4367	613109
HP:0002371	HP:0002371	Loss of speech	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	212	4367	613109
HP:0002371	HP:0002371	Loss of speech	0	GRN CL E G H	2896	275864				ORPHA	1	594	4601	138945
HP:0002371	HP:0002371	Loss of speech	0	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	1049	26527	610453
HP:0002371	HP:0002371	Loss of speech	0	IFIH1 CL E G H	64135	51				ORPHA	1	1170	18873	606951
HP:0002371	HP:0002371	Loss of speech	0	IRF2BPL CL E G H	64207	618088	NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	618088	CN252701	OMIM	1	312	14282	611720
HP:0002371	HP:0002371	Loss of speech	0	MAPT CL E G H	4137	275864				ORPHA	1	581	6893	157140
HP:0002371	HP:0002371	Loss of speech	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0002371	HP:0002371	Loss of speech	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0002371	HP:0002371	Loss of speech	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0002371	HP:0002371	Loss of speech	0	PSAP CL E G H	5660	249900	Sphingolipid activator protein 1 deficiency	249900	C0268262	OMIM	1	772	9498	176801
HP:0002371	HP:0002371	Loss of speech	0	PSEN1 CL E G H	5663	275864				ORPHA	1	501	9508	104311
HP:0002371	HP:0002371	Loss of speech	0	RNASEH2A CL E G H	10535	51				ORPHA	1	404	18518	606034
HP:0002371	HP:0002371	Loss of speech	0	RNASEH2B CL E G H	79621	51				ORPHA	1	426	25671	610326
HP:0002371	HP:0002371	Loss of speech	0	RNASEH2C CL E G H	84153	51				ORPHA	1	307	24116	610330
HP:0002371	HP:0002371	Loss of speech	0	SAMHD1 CL E G H	25939	51				ORPHA	1	746	15925	606754
HP:0002371	HP:0002371	Loss of speech	0	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0002371	HP:0002371	Loss of speech	0	SPG7 CL E G H	6687	35689				ORPHA	1	966	11237	602783
HP:0002371	HP:0002371	Loss of speech	0	SQSTM1 CL E G H	8878	275864				ORPHA	1	677	11280	601530
HP:0002371	HP:0002371	Loss of speech	0	TMEM106B CL E G H	54664	275864				ORPHA	1	128	22407	613413
HP:0002371	HP:0002371	Loss of speech	0	TREM2 CL E G H	54209	275864				ORPHA	1	154	17761	605086
HP:0002371	HP:0002371	Loss of speech	0	TREX1 CL E G H	11277	51				ORPHA	1	418	12269	606609
HP:0002371	HP:0002371	Loss of speech	0	VCP CL E G H	7415	275864				ORPHA	1	607	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002371	HP:0002371	Loss of speech	0	ALDH18A1 CL E G H	5832	447760				ORPHA	0	586	9722	138250
HP:0002371	HP:0002371	Loss of speech	0	ARSA CL E G H	410	309256				ORPHA	0	1140	713	607574
HP:0002371	HP:0002371	Loss of speech	0	ARSA CL E G H	410	309271				ORPHA	0	1140	713	607574
HP:0002371	HP:0002371	Loss of speech	0	ARSA CL E G H	410	309263				ORPHA	0	1140	713	607574
HP:0002371	HP:0002371	Loss of speech	0	PSAP CL E G H	5660	309256				ORPHA	0	772	9498	176801
HP:0002371	HP:0002371	Loss of speech	0	PSAP CL E G H	5660	309271				ORPHA	0	772	9498	176801
HP:0002371	HP:0002371	Loss of speech	0	PSAP CL E G H	5660	309263				ORPHA	0	772	9498	176801
HP:0002371	HP:0002371	Loss of speech	0	TPK1 CL E G H	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	614458	C3280866	OMIM	0	318	17358	606370