Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Neurodevelopmental abnormality (HP:0012759)

Parent Node:
Intellectual disability (HP:0001249)

..Starting node
..Intellectual disability, mild (HP:0001256)

Term ID:

1256

Name:

Intellectual disability, mild

Synonym:

Intellectual disability, mild; Mental retardation, borderline-mild; Mental retardation, mild; Mild and nonprogressive mental retardation; Mild mental retardation

Definition:

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

Comments:

Reference:

HP:0001256

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intellectual disability, borderline (HP:0006889)

Intellectual disability, moderate (HP:0002342)

Intellectual disability, profound (HP:0002187)

Intellectual disability, progressive (HP:0006887)

Intellectual disability, severe (HP:0010864)

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:0001256	HP:0001256	Intellectual disability, mild	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	118	17366	605113
HP:0001256	HP:0001256	Intellectual disability, mild	0	ABCC9 CL E G H	10060	1517				ORPHA	1	1266	60	601439
HP:0001256	HP:0001256	Intellectual disability, mild	0	ABCC9 CL E G H	10060	965	Brachydactyly dwarfism mental retardation			ORPHA	1	1266	60	601439
HP:0001256	HP:0001256	Intellectual disability, mild	0	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1266	60	601439
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACOX2 CL E G H	8309	617308	Bile acid synthesis defect, congenital, 6	617308	C4310624	OMIM	1	82	120	601641
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACTB CL E G H	60	607371	Juvenile-onset dystonia	607371	C1846331	OMIM	1	406	132	102630
HP:0001256	HP:0001256	Intellectual disability, mild	0	ADAR CL E G H	103	225154				ORPHA	1	818	225	146920
HP:0001256	HP:0001256	Intellectual disability, mild	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001256	HP:0001256	Intellectual disability, mild	0	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	1774	321	610860
HP:0001256	HP:0001256	Intellectual disability, mild	0	ALX4 CL E G H	60529	228390				ORPHA	1	251	450	605420
HP:0001256	HP:0001256	Intellectual disability, mild	0	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	293	26837	300647
HP:0001256	HP:0001256	Intellectual disability, mild	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	532	566	603401
HP:0001256	HP:0001256	Intellectual disability, mild	0	APC CL E G H	324	261584				ORPHA	1	11490	583	611731
HP:0001256	HP:0001256	Intellectual disability, mild	0	ARID1B CL E G H	57492	251056				ORPHA	1	1206	18040	614556
HP:0001256	HP:0001256	Intellectual disability, mild	0	ARVCF CL E G H	421	567				ORPHA	1	541	728	602269
HP:0001256	HP:0001256	Intellectual disability, mild	0	ATP2A2 CL E G H	488	124200	Keratosis follicularis	124200	C0022595	OMIM	1	189	812	108740
HP:0001256	HP:0001256	Intellectual disability, mild	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	192	4117	601873
HP:0001256	HP:0001256	Intellectual disability, mild	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	570	20893	300485
HP:0001256	HP:0001256	Intellectual disability, mild	0	BPTF CL E G H	2186	529962				ORPHA	1	191	3581	601819
HP:0001256	HP:0001256	Intellectual disability, mild	0	BRWD3 CL E G H	254065	300659	Mental retardation, X-linked 93	300659	C1970841	OMIM	1	519	17342	300553
HP:0001256	HP:0001256	Intellectual disability, mild	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0001256	HP:0001256	Intellectual disability, mild	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	248	29521	615140
HP:0001256	HP:0001256	Intellectual disability, mild	0	C12orf65 CL E G H	91574	320375				ORPHA	1		26784	613541
HP:0001256	HP:0001256	Intellectual disability, mild	0	CA8 CL E G H	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	613227	C2750509	OMIM	1	90	1382	114815
HP:0001256	HP:0001256	Intellectual disability, mild	0	CAMTA1 CL E G H	23261	314647				ORPHA	1	334	18806	611501
HP:0001256	HP:0001256	Intellectual disability, mild	0	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	334	18806	611501
HP:0001256	HP:0001256	Intellectual disability, mild	0	CDK6 CL E G H	1021	616080	Primary autosomal recessive microcephaly 12	616080	C4015156	OMIM	1	49	1777	603368
HP:0001256	HP:0001256	Intellectual disability, mild	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	591	2022	302910
HP:0001256	HP:0001256	Intellectual disability, mild	0	COMT CL E G H	1312	567				ORPHA	1	586	2228	116790
HP:0001256	HP:0001256	Intellectual disability, mild	0	CPLX1 CL E G H	10815	352582				ORPHA	1	167	2309	605032
HP:0001256	HP:0001256	Intellectual disability, mild	0	CRBN CL E G H	51185	607417	Mental retardation, autosomal recessive 2	607417	C1843942	OMIM	1	142	30185	609262
HP:0001256	HP:0001256	Intellectual disability, mild	0	CTDP1 CL E G H	9150	48431				ORPHA	1	383	2498	604927
HP:0001256	HP:0001256	Intellectual disability, mild	0	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	428	23537	614984
HP:0001256	HP:0001256	Intellectual disability, mild	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	237	2896	608770
HP:0001256	HP:0001256	Intellectual disability, mild	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	236	27030	617048
HP:0001256	HP:0001256	Intellectual disability, mild	0	DPYD CL E G H	1806	293948				ORPHA	1	379	3012	612779
HP:0001256	HP:0001256	Intellectual disability, mild	0	EDC3 CL E G H	80153	616460	Mental retardation, autosomal recessive 50	616460	C4225319	OMIM	1	49	26114	609842
HP:0001256	HP:0001256	Intellectual disability, mild	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	835	3373	602700
HP:0001256	HP:0001256	Intellectual disability, mild	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	602	3436	133520
HP:0001256	HP:0001256	Intellectual disability, mild	0	ERMARD CL E G H	55780	75857				ORPHA	1	238	21056	615532
HP:0001256	HP:0001256	Intellectual disability, mild	0	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	194	17097	602238
HP:0001256	HP:0001256	Intellectual disability, mild	0	EYA1 CL E G H	2138	166780	Otofaciocervical syndrome 1	166780	C3714941	OMIM	1	434	3519	601653
HP:0001256	HP:0001256	Intellectual disability, mild	0	FBN1 CL E G H	2200	608328	Weill-Marchesani syndrome 2	608328	C1869115	OMIM	1	5970	3603	134797
HP:0001256	HP:0001256	Intellectual disability, mild	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0001256	HP:0001256	Intellectual disability, mild	0	FGFR2 CL E G H	2263	168624				ORPHA	1	567	3689	176943
HP:0001256	HP:0001256	Intellectual disability, mild	0	FIBP CL E G H	9158	617107	Thauvin-Robinet-Faivre syndrome	617107	C4310715	OMIM	1	37	3705	608296
HP:0001256	HP:0001256	Intellectual disability, mild	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	1833	27310	607273
HP:0001256	HP:0001256	Intellectual disability, mild	0	FLNA CL E G H	2316	90650				ORPHA	1	2538	3754	300017
HP:0001256	HP:0001256	Intellectual disability, mild	0	FLNA CL E G H	2316	311300	Oto-palato-digital syndrome, type I	311300	C0265251	OMIM	1	2538	3754	300017
HP:0001256	HP:0001256	Intellectual disability, mild	0	FLNA CL E G H	2316	300049	Periventricular nodular heterotopia 1	300049	C1848213	OMIM	1	2538	3754	300017
HP:0001256	HP:0001256	Intellectual disability, mild	0	FMR1 CL E G H	2332	261483				ORPHA	1	338	3775	309550
HP:0001256	HP:0001256	Intellectual disability, mild	0	FTSJ1 CL E G H	24140	309549	Mental retardation 9, X-linked	309549	C0796215	OMIM	1	226	13254	300499
HP:0001256	HP:0001256	Intellectual disability, mild	0	GATA4 CL E G H	2626	251071				ORPHA	1	630	4173	600576
HP:0001256	HP:0001256	Intellectual disability, mild	0	GLB1 CL E G H	2720	230650	Gangliosidosis GM1 type 3	230650	C0268273	OMIM	1	696	4298	611458
HP:0001256	HP:0001256	Intellectual disability, mild	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0001256	HP:0001256	Intellectual disability, mild	0	GNPTG CL E G H	84572	252605	Mucolipidosis III Gamma	252605	C1854896	OMIM	1	603	23026	607838
HP:0001256	HP:0001256	Intellectual disability, mild	0	GP1BB CL E G H	2812	567				ORPHA	1	449	4440	138720
HP:0001256	HP:0001256	Intellectual disability, mild	0	H19 CL E G H	283120	2128	Enolase deficiency type 3			ORPHA	1	58	4713	103280
HP:0001256	HP:0001256	Intellectual disability, mild	0	HDAC6 CL E G H	10013	163966				ORPHA	1	203	14064	300272
HP:0001256	HP:0001256	Intellectual disability, mild	0	HDAC6 CL E G H	10013	300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	300863	C3275476	OMIM	1	203	14064	300272
HP:0001256	HP:0001256	Intellectual disability, mild	0	HEPACAM CL E G H	220296	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	247	26361	611642
HP:0001256	HP:0001256	Intellectual disability, mild	0	HIRA CL E G H	7290	567				ORPHA	1	435	4916	600237
HP:0001256	HP:0001256	Intellectual disability, mild	0	HMGA2 CL E G H	8091	94063				ORPHA	1	27	5009	600698
HP:0001256	HP:0001256	Intellectual disability, mild	0	HPD CL E G H	3242	276710	4-Hydroxyphenylpyruvate dioxygenase deficiency	276710	C0268623	OMIM	1	158	5147	609695
HP:0001256	HP:0001256	Intellectual disability, mild	0	HPRT1 CL E G H	3251	510				ORPHA	1	327	5157	308000
HP:0001256	HP:0001256	Intellectual disability, mild	0	HUWE1 CL E G H	10075	85328				ORPHA	1	919	30892	300697
HP:0001256	HP:0001256	Intellectual disability, mild	0	IGF1 CL E G H	3479	73272				ORPHA	1	183	5464	147440
HP:0001256	HP:0001256	Intellectual disability, mild	0	IGF2 CL E G H	3481	2128	Enolase deficiency type 3			ORPHA	1	98	5466	147470
HP:0001256	HP:0001256	Intellectual disability, mild	0	JMJD1C CL E G H	221037	567				ORPHA	1	971	12313	604503
HP:0001256	HP:0001256	Intellectual disability, mild	0	KCNC3 CL E G H	3748	98768				ORPHA	1	216	6235	176264
HP:0001256	HP:0001256	Intellectual disability, mild	0	KCNJ8 CL E G H	3764	1517				ORPHA	1	173	6269	600935
HP:0001256	HP:0001256	Intellectual disability, mild	0	KCNQ1OT1 CL E G H	10984	2128	Enolase deficiency type 3			ORPHA	1	232	6295	604115
HP:0001256	HP:0001256	Intellectual disability, mild	0	KIF11 CL E G H	3832	152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	152950	C1835265	OMIM	1	605	6388	148760
HP:0001256	HP:0001256	Intellectual disability, mild	0	LEMD3 CL E G H	23592	94063				ORPHA	1	299	28887	607844
HP:0001256	HP:0001256	Intellectual disability, mild	0	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	1354	6697	603506
HP:0001256	HP:0001256	Intellectual disability, mild	0	MARS CL E G H	4141	401835				ORPHA	1		6898	156560
HP:0001256	HP:0001256	Intellectual disability, mild	0	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0001256	HP:0001256	Intellectual disability, mild	0	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	224	6901	600521
HP:0001256	HP:0001256	Intellectual disability, mild	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1778	6990	300005
HP:0001256	HP:0001256	Intellectual disability, mild	0	MGP CL E G H	4256	85202				ORPHA	1	129	7060	154870
HP:0001256	HP:0001256	Intellectual disability, mild	0	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001256	HP:0001256	Intellectual disability, mild	0	MLC1 CL E G H	23209	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	578	17082	605908
HP:0001256	HP:0001256	Intellectual disability, mild	0	MSMO1 CL E G H	6307	616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	616834	C4225189	OMIM	1	81	10545	607545
HP:0001256	HP:0001256	Intellectual disability, mild	0	MSTO1 CL E G H	55154	502423				ORPHA	1	85	29678	617619
HP:0001256	HP:0001256	Intellectual disability, mild	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	85	29678	617619
HP:0001256	HP:0001256	Intellectual disability, mild	0	MT-ATP6 CL E G H	4508	225154				ORPHA	1		7414	516060
HP:0001256	HP:0001256	Intellectual disability, mild	0	MTHFD1 CL E G H	4522	617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	617780	C4540434	OMIM	1	247	7432	172460
HP:0001256	HP:0001256	Intellectual disability, mild	0	NAGA CL E G H	4668	79280				ORPHA	1	183	7631	104170
HP:0001256	HP:0001256	Intellectual disability, mild	0	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	183	7631	104170
HP:0001256	HP:0001256	Intellectual disability, mild	0	NF1 CL E G H	4763	162200	Neurofibromatosis, type 1	162200	C0027831	OMIM	1	10917	7765	613113
HP:0001256	HP:0001256	Intellectual disability, mild	0	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0001256	HP:0001256	Intellectual disability, mild	0	NGF CL E G H	4803	64752				ORPHA	1	161	7808	162030
HP:0001256	HP:0001256	Intellectual disability, mild	0	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	1	312	13398	300275
HP:0001256	HP:0001256	Intellectual disability, mild	0	NTRK1 CL E G H	4914	64752				ORPHA	1	981	8031	191315
HP:0001256	HP:0001256	Intellectual disability, mild	0	NUP62 CL E G H	23636	225154				ORPHA	1	97	8066	605815
HP:0001256	HP:0001256	Intellectual disability, mild	0	PDSS1 CL E G H	23590	614651	Coenzyme Q10 deficiency, primary, 2	614651	C3553354	OMIM	1	196	17759	607429
HP:0001256	HP:0001256	Intellectual disability, mild	0	PEX10 CL E G H	5192	247815				ORPHA	1	654	8851	602859
HP:0001256	HP:0001256	Intellectual disability, mild	0	PEX11B CL E G H	8799	614920	Peroxisome biogenesis disorder 14B	614920	C3554055	OMIM	1	350	8853	603867
HP:0001256	HP:0001256	Intellectual disability, mild	0	PGAP1 CL E G H	80055	401820				ORPHA	1	261	25712	611655
HP:0001256	HP:0001256	Intellectual disability, mild	0	PHF8 CL E G H	23133	85287				ORPHA	1	273	20672	300560
HP:0001256	HP:0001256	Intellectual disability, mild	0	POLR3A CL E G H	11128	447896				ORPHA	1	785	30074	614258
HP:0001256	HP:0001256	Intellectual disability, mild	0	POLR3B CL E G H	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	C3280644	OMIM	1	368	30348	614366
HP:0001256	HP:0001256	Intellectual disability, mild	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001256	HP:0001256	Intellectual disability, mild	0	PSMD12 CL E G H	5718	529962				ORPHA	1	53	9557	604450
HP:0001256	HP:0001256	Intellectual disability, mild	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2750	9588	601728
HP:0001256	HP:0001256	Intellectual disability, mild	0	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	716	9644	176876
HP:0001256	HP:0001256	Intellectual disability, mild	0	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	78	24713	617387
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAB3GAP2 CL E G H	25782	401830				ORPHA	1	474	17168	609275
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAI1 CL E G H	10743	1713				ORPHA	1	1149	9834	607642
HP:0001256	HP:0001256	Intellectual disability, mild	0	RARS CL E G H	5917	438114				ORPHA	1		9870	107820
HP:0001256	HP:0001256	Intellectual disability, mild	0	RNU4ATAC CL E G H	100151683	616651	Roifman syndrome	616651	C1846059	OMIM	1	214	34016	601428
HP:0001256	HP:0001256	Intellectual disability, mild	0	RPS23 CL E G H	6228	617412	MacInnes syndrome	617412	C4479431	OMIM	1	16	10410	603683
HP:0001256	HP:0001256	Intellectual disability, mild	0	RREB1 CL E G H	6239	567				ORPHA	1	175	10449	602209
HP:0001256	HP:0001256	Intellectual disability, mild	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	102	19440	607444
HP:0001256	HP:0001256	Intellectual disability, mild	0	SCYL1 CL E G H	57410	466794				ORPHA	1	73	14372	607982
HP:0001256	HP:0001256	Intellectual disability, mild	0	SEC24C CL E G H	9632	567				ORPHA	1	25	10705	607185
HP:0001256	HP:0001256	Intellectual disability, mild	0	SFXN4 CL E G H	119559	615578	Combined oxidative phosphorylation deficiency 18	615578	C3810001	OMIM	1	151	16088	615564
HP:0001256	HP:0001256	Intellectual disability, mild	0	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	218	19353	607776
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC35A3 CL E G H	23443	370943				ORPHA	1	199	11023	605632
HP:0001256	HP:0001256	Intellectual disability, mild	0	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	130	11191	600898
HP:0001256	HP:0001256	Intellectual disability, mild	0	SOX3 CL E G H	6658	300123	Mental retardation with panhypopituitarism, X-linked	300123	C2678223	OMIM	1	230	11199	313430
HP:0001256	HP:0001256	Intellectual disability, mild	0	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	274	18514	607111
HP:0001256	HP:0001256	Intellectual disability, mild	0	SPTBN2 CL E G H	6712	352403				ORPHA	1	716	11276	604985
HP:0001256	HP:0001256	Intellectual disability, mild	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	145	11301	604857
HP:0001256	HP:0001256	Intellectual disability, mild	0	SRPX2 CL E G H	27286	300643	Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked	300643	C1845070	OMIM	1	323	30668	300642
HP:0001256	HP:0001256	Intellectual disability, mild	0	SUFU CL E G H	51684	617757	JOUBERT SYNDROME 32	617757	C4540342	OMIM	1	1114	16466	607035
HP:0001256	HP:0001256	Intellectual disability, mild	0	TAF13 CL E G H	6884	617432	Mental retardation, autosomal recessive 60	617432	C4479476	OMIM	1	39	11546	600774
HP:0001256	HP:0001256	Intellectual disability, mild	0	TBC1D24 CL E G H	57465	352582				ORPHA	1	795	29203	613577
HP:0001256	HP:0001256	Intellectual disability, mild	0	TBX1 CL E G H	6899	567				ORPHA	1	972	11592	602054
HP:0001256	HP:0001256	Intellectual disability, mild	0	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	158	11742	107580
HP:0001256	HP:0001256	Intellectual disability, mild	0	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	94	11743	601601
HP:0001256	HP:0001256	Intellectual disability, mild	0	TSPAN7 CL E G H	7102	300210	Mental retardation 58, X-linked	300210	C1846174	OMIM	1	219	11854	300096
HP:0001256	HP:0001256	Intellectual disability, mild	0	UFD1 CL E G H	7353	567				ORPHA	1	400	12520	601754
HP:0001256	HP:0001256	Intellectual disability, mild	0	WDFY3 CL E G H	23001	617520	Microcephaly 18, primary, autosomal dominant	617520	C4479608	OMIM	1	259	20751	617485
HP:0001256	HP:0001256	Intellectual disability, mild	0	WDR48 CL E G H	57599	401800				ORPHA	1	12	30914	612167
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZC4H2 CL E G H	55906	3454				ORPHA	1	237	24931	300897
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	237	24931	300897
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZDHHC15 CL E G H	158866	300577	Mental retardation 91, X-linked	300577	C1845142	OMIM	1	178	20342	300576
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZFR CL E G H	51663	401840				ORPHA	1	90	17277	615635
HP:0001256	HP:0001256	Intellectual disability, mild	0	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	179	16966	608668
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	0	224	124	171640
HP:0001256	HP:0001256	Intellectual disability, mild	0	ACVR1 CL E G H	90	135100	Progressive myositis ossificans	135100	C0016037	OMIM	0	169	171	102576
HP:0001256	HP:0001256	Intellectual disability, mild	0	ADAMTS10 CL E G H	81794	3449	Mehes syndrome			ORPHA	0	489	13201	608990
HP:0001256	HP:0001256	Intellectual disability, mild	0	ADAMTS10 CL E G H	81794	277600	Weill-Marchesani syndrome 1	277600	C1869114	OMIM	0	489	13201	608990
HP:0001256	HP:0001256	Intellectual disability, mild	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	0	634	391	164730
HP:0001256	HP:0001256	Intellectual disability, mild	0	ANO10 CL E G H	55129	284289				ORPHA	0	240	25519	613726
HP:0001256	HP:0001256	Intellectual disability, mild	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	0	408	11231	606439
HP:0001256	HP:0001256	Intellectual disability, mild	0	BIN1 CL E G H	274	169186				ORPHA	0	552	1052	601248
HP:0001256	HP:0001256	Intellectual disability, mild	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	0	552	1052	601248
HP:0001256	HP:0001256	Intellectual disability, mild	0	BLM CL E G H	641	125				ORPHA	0	3201	1058	604610
HP:0001256	HP:0001256	Intellectual disability, mild	0	BLM CL E G H	641	210900	Bloom syndrome	210900	C0005859	OMIM	0	3201	1058	604610
HP:0001256	HP:0001256	Intellectual disability, mild	0	BRAF CL E G H	673	500				ORPHA	0	948	1097	164757
HP:0001256	HP:0001256	Intellectual disability, mild	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	311	30794	607951
HP:0001256	HP:0001256	Intellectual disability, mild	0	CHRNA7 CL E G H	1139	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	0	347	1960	118511
HP:0001256	HP:0001256	Intellectual disability, mild	0	COL4A1 CL E G H	1282	607595	Brain small vessel disease with hemorrhage	607595	C1843512	OMIM	0	1258	2202	120130
HP:0001256	HP:0001256	Intellectual disability, mild	0	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	0		2678	603084
HP:0001256	HP:0001256	Intellectual disability, mild	0	DCC CL E G H	1630	238722				ORPHA	0	175	2701	120470
HP:0001256	HP:0001256	Intellectual disability, mild	0	DCC CL E G H	1630	157600	Mirror movements 1	157600	C1834870	OMIM	0	175	2701	120470
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNAJC12 CL E G H	56521	617384	Hyperphenylalaninemia, mild, non-bh4-deficient	617384	C4479270	OMIM	0	93	28908	606060
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNAJC3 CL E G H	5611	445062				ORPHA	0	105	9439	601184
HP:0001256	HP:0001256	Intellectual disability, mild	0	DNAL4 CL E G H	10126	238722				ORPHA	0	25	2955	610565
HP:0001256	HP:0001256	Intellectual disability, mild	0	DONSON CL E G H	29980	617604	MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES	617604	C4539873	OMIM	0	158	2993	611428
HP:0001256	HP:0001256	Intellectual disability, mild	0	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	1312	23109	612411
HP:0001256	HP:0001256	Intellectual disability, mild	0	FBN1 CL E G H	2200	3449	Mehes syndrome			ORPHA	0	5970	3603	134797
HP:0001256	HP:0001256	Intellectual disability, mild	0	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	0	346	3663	300546
HP:0001256	HP:0001256	Intellectual disability, mild	0	FGF14 CL E G H	2259	98764				ORPHA	0	208	3671	601515
HP:0001256	HP:0001256	Intellectual disability, mild	0	GBA2 CL E G H	57704	352641				ORPHA	0	277	18986	609471
HP:0001256	HP:0001256	Intellectual disability, mild	0	GLI3 CL E G H	2737	380				ORPHA	0	751	4319	165240
HP:0001256	HP:0001256	Intellectual disability, mild	0	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	751	4319	165240
HP:0001256	HP:0001256	Intellectual disability, mild	0	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	0	273	22932	615320
HP:0001256	HP:0001256	Intellectual disability, mild	0	GORAB CL E G H	92344	2078				ORPHA	0	198	25676	607983
HP:0001256	HP:0001256	Intellectual disability, mild	0	GPSM2 CL E G H	29899	604213	Chudley-McCullough syndrome	604213	C1858695	OMIM	0	239	29501	609245
HP:0001256	HP:0001256	Intellectual disability, mild	0	HINT1 CL E G H	3094	324442				ORPHA	0	130	4912	601314
HP:0001256	HP:0001256	Intellectual disability, mild	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	0	1308	6188	601920
HP:0001256	HP:0001256	Intellectual disability, mild	0	KIF1C CL E G H	10749	397946				ORPHA	0	366	6317	603060
HP:0001256	HP:0001256	Intellectual disability, mild	0	KLF13 CL E G H	51621	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	0	221	13672	605328
HP:0001256	HP:0001256	Intellectual disability, mild	0	LMNB1 CL E G H	4001	99027				ORPHA	0	169	6637	150340
HP:0001256	HP:0001256	Intellectual disability, mild	0	LTBP2 CL E G H	4053	3449	Mehes syndrome			ORPHA	0	770	6715	602091
HP:0001256	HP:0001256	Intellectual disability, mild	0	MAP3K7 CL E G H	6885	617137	Frontometaphyseal dysplasia 2	617137	C4310697	OMIM	0	161	6859	602614
HP:0001256	HP:0001256	Intellectual disability, mild	0	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	0		7490	590050
HP:0001256	HP:0001256	Intellectual disability, mild	0	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	0		7491	590055
HP:0001256	HP:0001256	Intellectual disability, mild	0	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	0		7493	590010
HP:0001256	HP:0001256	Intellectual disability, mild	0	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	0		7497	590080
HP:0001256	HP:0001256	Intellectual disability, mild	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	0	206	26274	612803
HP:0001256	HP:0001256	Intellectual disability, mild	0	NGF CL E G H	4803	608654	Congenital sensory neuropathy with selective loss of small myelinated fibers	608654	C0020075	OMIM	0	161	7808	162030
HP:0001256	HP:0001256	Intellectual disability, mild	0	NRAS CL E G H	4893	613224	Noonan syndrome 6	613224	C2750732	OMIM	0	250	7989	164790
HP:0001256	HP:0001256	Intellectual disability, mild	0	NTN1 CL E G H	9423	238722				ORPHA	0	26	8029	601614
HP:0001256	HP:0001256	Intellectual disability, mild	0	PGAP2 CL E G H	27315	614207	Hyperphosphatasia with mental retardation syndrome 3	614207	C3280153	OMIM	0	83	17893	615187
HP:0001256	HP:0001256	Intellectual disability, mild	0	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	755	26270	613629
HP:0001256	HP:0001256	Intellectual disability, mild	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	0	975	8975	171834
HP:0001256	HP:0001256	Intellectual disability, mild	0	PNPLA2 CL E G H	57104	98908				ORPHA	0	443	30802	609059
HP:0001256	HP:0001256	Intellectual disability, mild	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	0	943	16268	603197
HP:0001256	HP:0001256	Intellectual disability, mild	0	PRRT2 CL E G H	112476	98811				ORPHA	0	702	30500	614386
HP:0001256	HP:0001256	Intellectual disability, mild	0	PSMB8 CL E G H	5696	2615				ORPHA	0	161	9545	177046
HP:0001256	HP:0001256	Intellectual disability, mild	0	PTPN11 CL E G H	5781	500				ORPHA	0	716	9644	176876
HP:0001256	HP:0001256	Intellectual disability, mild	0	PYCR1 CL E G H	5831	2078				ORPHA	0	208	9721	179035
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAD51 CL E G H	5888	238722				ORPHA	0	260	9817	179617
HP:0001256	HP:0001256	Intellectual disability, mild	0	RAF1 CL E G H	5894	500				ORPHA	0	827	9829	164760
HP:0001256	HP:0001256	Intellectual disability, mild	0	RNF135 CL E G H	84282	137634				ORPHA	0	117	21158	611358
HP:0001256	HP:0001256	Intellectual disability, mild	0	RTN4IP1 CL E G H	84816	616732	Optic atrophy 10 with or without ataxia, mental retardation, and seizures	616732	C4225227	OMIM	0	246	18647	610502
HP:0001256	HP:0001256	Intellectual disability, mild	0	RYR1 CL E G H	6261	169186				ORPHA	0	5062	10483	180901
HP:0001256	HP:0001256	Intellectual disability, mild	0	SCYL1 CL E G H	57410	616719	Spinocerebellar ataxia, autosomal recessive 21	616719	C4225236	OMIM	0	73	14372	607982
HP:0001256	HP:0001256	Intellectual disability, mild	0	SHH CL E G H	6469	147250	Single median maxillary incisor	147250	C1840235	OMIM	0	340	10848	600725
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC25A24 CL E G H	29957	2095				ORPHA	0	83	20662	608744
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC29A3 CL E G H	55315	168569				ORPHA	0	345	23096	612373
HP:0001256	HP:0001256	Intellectual disability, mild	0	SLC2A1 CL E G H	6513	98811				ORPHA	0	827	11005	138140
HP:0001256	HP:0001256	Intellectual disability, mild	0	SPEG CL E G H	10290	169186				ORPHA	0	907	16901	615950
HP:0001256	HP:0001256	Intellectual disability, mild	0	SRY CL E G H	6736	1772				ORPHA	0	113	11311	480000
HP:0001256	HP:0001256	Intellectual disability, mild	0	TAC3 CL E G H	6866	614839	Hypogonadotropic hypogonadism 10 with or without anosmia	614839	C3553843	OMIM	0	22	11521	162330
HP:0001256	HP:0001256	Intellectual disability, mild	0	TH CL E G H	7054	101150				ORPHA	0	794	11782	191290
HP:0001256	HP:0001256	Intellectual disability, mild	0	TTN CL E G H	7273	169186				ORPHA	0	22859	12403	188840
HP:0001256	HP:0001256	Intellectual disability, mild	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	0	390	23595	608877

Genes (195) :AASS ABCC9 ACOX2 ACP5 ACTB ACVR1 ADAMTS10 ADAR AFG3L2 AGL AKT1 ALX4 AMER1 ANO10 AP3B1 APC ARID1B ARVCF ATL1 ATP2A2 ATP6 B4GALNT1 BCOR BIN1 BLM BPTF BRAF BRWD3 BSCL2 C12ORF57 C12ORF65 C12orf57 C12orf65 CA8 CAMTA1 CDK6 CEP57 CHRNA7 CLCN4 COL4A1 COMT CPLX1 CRBN CTDP1 DARS DCC DHTKD1 DLAT DMD DNAJC12 DNAJC21 DNAJC3 DNAL4 DONSON DPYD EDC3 EP300 ERCC4 ERMARD EXOSC2 EYA1 FAT4 FBN1 FGD1 FGF14 FGFR2 FIBP FLCN FLNA FMR1 FTSJ1 GATA4 GBA2 GLB1 GLI3 GMPPB GNE GNPTG GORAB GP1BB GPSM2 H19 HDAC6 HEPACAM HINT1 HIRA HMGA2 HPD HPRT1 HUWE1 IGF1 IGF2 JAG1 JMJD1C KCNC3 KCNJ8 KCNQ1OT1 KIF11 KIF1C KLF13 LEMD3 LMNB1 LRP5 LTBP2 MAP3K7 MARS MARS2 MASP1 MECP2 MGP MLC1 MSMO1 MSTO1 MT-ATP6 MTHFD1 NAGA NARS2 NF1 NFE2L2 NGF NRAS NSDHL NTN1 NTRK1 NUP62 PDSS1 PEX10 PEX11B PGAP1 PGAP2 PHF8 PIEZO2 PIK3CA PNPLA2 PNPLA6 POLR3A POLR3B PRRT2 PSMB8 PSMD12 PTEN PTPN11 PYCR1 QRICH1 RAB3GAP2 RAD51 RAF1 RAI1 RARS RNF135 RNU4ATAC RPS23 RREB1 RTN4IP1 RYR1 SBDS SCYL1 SEC24C SFXN4 SHH SIN3A SLC25A24 SLC29A3 SLC2A1 SLC35A3 SOX11 SOX3 SPART SPEG SPTBN2 SRP54 SRPX2 SRY SUFU TAC3 TAF13 TBC1D24 TBX1 TFAP2A TFAP2B TH TRNL1 TRNL2 TRNN TRNS1 TSPAN7 TTN UFD1 VPS13D WDFY3 WDR48 ZC4H2 ZDHHC15 ZFR ZMYND11

Diseases (177) :238700 1517 965 239850 617308 607944 607371 135100 3449 277600 225154 313772 366 615109 228390 300373 284289 608233 261584 251056 567 182600 124200 609195 300166 169186 255200 125 210900 529962 500 300659 269700 218340 320375 613227 314647 614756 616080 614114 612001 300114 607595 352582 607417 48431 615281 238722 157600 204750 245348 310200 617384 260400 445062 617604 293948 616460 613684 610965 75857 617763 166780 616006 608328 305400 98764 609307 168624 617107 610883 90650 311300 300049 261483 309549 251071 352641 230650 380 175700 615352 3166 252605 2078 604213 2128 163966 300863 604004 324442 94063 276710 510 85328 73272 118450 98768 152950 397946 99027 259770 617137 401835 314603 257920 300055 85202 245150 616834 502423 617675 617780 79280 609242 616239 162200 617744 64752 608654 613224 308050 614651 247815 614920 401820 614207 85287 114300 615108 98908 215470 447896 614381 98811 2615 256040 158350 151100 617982 401830 1713 438114 137634 616651 617412 616732 466794 616719 615578 147250 613406 2095 168569 370943 615866 300123 275900 352403 300643 1772 617757 614839 617432 113620 169100 101150 663 300210 607317 617520 401800 3454 314580 300577 401840 616083

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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