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:
Behavioral abnormality (HP:0000708)

Parent Node:
Autistic behavior (HP:0000729)

..Starting node
..Autism (HP:0000717)

Term ID:

717

Name:

Autism

Synonym:

Autism

Definition:

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).

Comments:

Reference:

HP:0000717

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alexithymia (HP:0031433)

Autism with high cognitive abilities (HP:0000753)

Impaired social interactions (HP:0000735)

Restrictive behavior (HP:0000723)

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:0000717	HP:0000717	Autism	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0000717	HP:0000717	Autism	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000717	HP:0000717	Autism	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0000717	HP:0000717	Autism	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0000717	HP:0000717	Autism	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0000717	HP:0000717	Autism	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.	108
HP:0000717	HP:0000717	Autism	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional	96
HP:0000717	HP:0000717	Autism	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0000717	HP:0000717	Autism	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040281 - Very frequent	102
HP:0000717	HP:0000717	Autism	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0000717	HP:0000717	Autism	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000717	HP:0000717	Autism	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000717	HP:0000717	Autism	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000717	HP:0000717	Autism	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0000717	HP:0000717	Autism	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0000717	HP:0000717	Autism	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000717	HP:0000717	Autism	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0000717	HP:0000717	Autism	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	BCKDK CL E G H	10295	16902	OMIM:614923	Branched-Chain ketoacid dehydrogenase kinase deficiency	HP:0040280 - Obligate	28
HP:0000717	HP:0000717	Autism	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0000717	HP:0000717	Autism	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0000717	HP:0000717	Autism	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.	572
HP:0000717	HP:0000717	Autism	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0000717	HP:0000717	Autism	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	3
HP:0000717	HP:0000717	Autism	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000717	HP:0000717	Autism	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000717	HP:0000717	Autism	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000717	HP:0000717	Autism	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0000717	HP:0000717	Autism	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0000717	HP:0000717	Autism	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0000717	HP:0000717	Autism	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000717	HP:0000717	Autism	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000717	HP:0000717	Autism	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0000717	HP:0000717	Autism	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent	33
HP:0000717	HP:0000717	Autism	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000717	HP:0000717	Autism	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0000717	HP:0000717	Autism	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0000717	HP:0000717	Autism	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0000717	HP:0000717	Autism	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0000717	HP:0000717	Autism	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0000717	HP:0000717	Autism	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000717	HP:0000717	Autism	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0000717	HP:0000717	Autism	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000717	HP:0000717	Autism	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent	223
HP:0000717	HP:0000717	Autism	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0000717	HP:0000717	Autism	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000717	HP:0000717	Autism	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent	102
HP:0000717	HP:0000717	Autism	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000717	HP:0000717	Autism	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0000717	HP:0000717	Autism	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0000717	HP:0000717	Autism	0	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis	HP:0040283 - Occasional	63
HP:0000717	HP:0000717	Autism	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0000717	HP:0000717	Autism	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040283 - Occasional	30
HP:0000717	HP:0000717	Autism	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040284 - Very rare	65
HP:0000717	HP:0000717	Autism	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000717	HP:0000717	Autism	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0000717	HP:0000717	Autism	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0000717	HP:0000717	Autism	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000717	HP:0000717	Autism	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0000717	HP:0000717	Autism	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	10
HP:0000717	HP:0000717	Autism	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0000717	HP:0000717	Autism	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional	91
HP:0000717	HP:0000717	Autism	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.	86
HP:0000717	HP:0000717	Autism	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0000717	HP:0000717	Autism	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0000717	HP:0000717	Autism	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000717	HP:0000717	Autism	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000717	HP:0000717	Autism	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000717	HP:0000717	Autism	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0000717	HP:0000717	Autism	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0000717	HP:0000717	Autism	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000717	HP:0000717	Autism	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000717	HP:0000717	Autism	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000717	HP:0000717	Autism	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000717	HP:0000717	Autism	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0000717	HP:0000717	Autism	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional	33
HP:0000717	HP:0000717	Autism	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0000717	HP:0000717	Autism	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000717	HP:0000717	Autism	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0000717	HP:0000717	Autism	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000717	HP:0000717	Autism	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0000717	HP:0000717	Autism	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	345
HP:0000717	HP:0000717	Autism	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0000717	HP:0000717	Autism	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0000717	HP:0000717	Autism	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0000717	HP:0000717	Autism	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000717	HP:0000717	Autism	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040283 - Occasional	119
HP:0000717	HP:0000717	Autism	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000717	HP:0000717	Autism	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0000717	HP:0000717	Autism	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	1
HP:0000717	HP:0000717	Autism	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0000717	HP:0000717	Autism	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0000717	HP:0000717	Autism	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000717	HP:0000717	Autism	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0000717	HP:0000717	Autism	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0000717	HP:0000717	Autism	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0000717	HP:0000717	Autism	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0000717	HP:0000717	Autism	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome		22
HP:0000717	HP:0000717	Autism	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.	950
HP:0000717	HP:0000717	Autism	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000717	HP:0000717	Autism	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000717	HP:0000717	Autism	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000717	HP:0000717	Autism	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000717	HP:0000717	Autism	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0000717	HP:0000717	Autism	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000717	HP:0000717	Autism	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000717	HP:0000717	Autism	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000717	HP:0000717	Autism	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000717	HP:0000717	Autism	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000717	HP:0000717	Autism	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent	47
HP:0000717	HP:0000717	Autism	0	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	HP:0040281 - Very frequent	47
HP:0000717	HP:0000717	Autism	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0000717	HP:0000717	Autism	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0000717	HP:0000717	Autism	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	HP:0040284 - Very rare	1
HP:0000717	HP:0000717	Autism	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0000717	HP:0000717	Autism	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional	117
HP:0000717	HP:0000717	Autism	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0000717	HP:0000717	Autism	0	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0000717	HP:0000717	Autism	0	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	.	24
HP:0000717	HP:0000717	Autism	0	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0000717	HP:0000717	Autism	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0000717	HP:0000717	Autism	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000717	HP:0000717	Autism	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000717	HP:0000717	Autism	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000717	HP:0000717	Autism	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	8
HP:0000717	HP:0000717	Autism	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0000717	HP:0000717	Autism	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0000717	HP:0000717	Autism	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0000717	HP:0000717	Autism	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0000717	HP:0000717	Autism	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040282 - Frequent	641
HP:0000717	HP:0000717	Autism	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000717	HP:0000717	Autism	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	14
HP:0000717	HP:0000717	Autism	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0000717	HP:0000717	Autism	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	113
HP:0000717	HP:0000717	Autism	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0000717	HP:0000717	Autism	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0000717	HP:0000717	Autism	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0000717	HP:0000717	Autism	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	148
HP:0000717	HP:0000717	Autism	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	134
HP:0000717	HP:0000717	Autism	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0000717	HP:0000717	Autism	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	HP:0040280 - Obligate	34
HP:0000717	HP:0000717	Autism	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0000717	HP:0000717	Autism	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.	948
HP:0000717	HP:0000717	Autism	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000717	HP:0000717	Autism	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000717	HP:0000717	Autism	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0000717	HP:0000717	Autism	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent	150
HP:0000717	HP:0000717	Autism	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	16
HP:0000717	HP:0000717	Autism	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0000717	HP:0000717	Autism	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent	10
HP:0000717	HP:0000717	Autism	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000717	HP:0000717	Autism	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0000717	HP:0000717	Autism	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	70
HP:0000717	HP:0000717	Autism	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	357
HP:0000717	HP:0000717	Autism	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0000717	HP:0000717	Autism	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0000717	HP:0000717	Autism	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0000717	HP:0000717	Autism	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0000717	HP:0000717	Autism	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000717	HP:0000717	Autism	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000717	HP:0000717	Autism	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000717	HP:0000717	Autism	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	150
HP:0000717	HP:0000717	Autism	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	73
HP:0000717	HP:0000717	Autism	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000717	HP:0000717	Autism	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0000717	HP:0000717	Autism	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent	93
HP:0000717	HP:0000717	Autism	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000717	HP:0000717	Autism	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0000717	HP:0000717	Autism	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0000717	HP:0000717	Autism	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000717	HP:0000717	Autism	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000717	HP:0000717	Autism	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37
HP:0000717	HP:0000717	Autism	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0000717	HP:0000717	Autism	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0000717	HP:0000717	Autism	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0000717	HP:0000717	Autism	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0000717	HP:0000717	Autism	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0000717	HP:0000717	Autism	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	4
HP:0000717	HP:0000717	Autism	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000717	HP:0000717	Autism	0	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0000717	HP:0000717	Autism	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0000717	HP:0000717	Autism	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000717	HP:0000717	Autism	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	9
HP:0000717	HP:0000717	Autism	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	123
HP:0000717	HP:0000717	Autism	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000717	HP:0000717	Autism	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0000717	HP:0000717	Autism	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.	1
HP:0000717	HP:0000717	Autism	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000717	HP:0000717	Autism	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000717	HP:0000717	Autism	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional	28
HP:0000717	HP:0000717	Autism	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6	.	10
HP:0000717	HP:0000717	Autism	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0000717	HP:0000717	Autism	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0000717	HP:0000717	Autism	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0000717	HP:0000717	Autism	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0000717	HP:0000717	Autism	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional	14
HP:0000717	HP:0000717	Autism	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0000717	HP:0000717	Autism	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040282 - Frequent	278
HP:0000717	HP:0000717	Autism	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0000717	HP:0000717	Autism	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000717	HP:0000717	Autism	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	149
HP:0000717	HP:0000717	Autism	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000717	HP:0000717	Autism	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000717	HP:0000717	Autism	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17

Genes (221) :AARS1 ACTL6B ADSL AHDC1 AKT1 ALAD ALDH5A1 ALG13 ALG14 ANKRD11 AP3B2 ARCN1 ARNT2 ARV1 ARVCF ASXL3 ATP1A2 ATP1A3 ATP6V1A ATRX BAZ1B BCKDK BCL7B BRD4 BUD23 CACNA1A CACNA1B CACNA1C CACNA2D1 CASZ1 CDK13 CDK19 CELF2 CHD7 CHD8 CHRNA7 CLIP2 CLTC CNKSR2 CNTNAP2 COMT CREBBP CYFIP2 CYP27A1 DALRD3 DEAF1 DHCR7 DHDDS DNAJC30 DNM1 DPAGT1 DPYD DYRK1A EEF1A2 EHMT1 EIF4H ELN EP300 EXT2 FGF12 FGF13 FGFR1 FKBP6 FLCN FLG FMR1 FTCD FTSJ1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GAMT GATM GJA5 GJA8 GLRA2 GNB1 GP1BB GRIA3 GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCN1 HDAC4 HDAC8 HERC2 HESX1 HIRA HNF1B HSPG2 IFNG IL1RAPL1 IPW IQSEC2 JMJD1C KCNA2 KCNAB2 KCNB1 KDM5C KLLN LHX1 LIMK1 LUZP1 MAGEL2 MAN1B1 MAOA MECP2 MED12 MED13L MEIS2 METTL27 MKRN3 MKRN3-AS1 MLXIPL MMP23B NAA20 NAGA NCF1 NDN NDP NECAP1 NFIB NHS NIPA1 NIPA2 NIPBL NLGN3 NLGN4X NONO NPAP1 NR2F1 NTRK2 NUS1 OCA2 OTX2 PAH PAK2 PARS2 PDE4D PDPN PIGL PIK3CA PLXND1 PPP3CA PRDM16 PRKAR1A PRKCZ PROKR2 PTCHD1 PTEN PWAR1 PWRN1 RAD21 RAI1 RERE REV3L RFC2 RPL10 RREB1 SATB1 SATB2 SCN3A SCN8A SDHB SDHC SDHD SEC23B SEC24C SEMA3E SH2B1 SHANK3 SIN3A SKI SLC13A5 SLC1A2 SLC35C1 SLC38A3 SLC9A6 SMAD4 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SOX2 SOX3 SPEN SPTBN1 STS STX1A SYNGAP1 SYNJ1 SZT2 TAOK1 TBCK TBL2 TBR1 TBX1 TCF12 TMEM270 TMLHE TRAK1 TSC1 TSC2 TUBG1 UBA5 UBE3A UBE4B UFD1 USF3 VPS37D WWOX YWHAG YY1 ZBTB20

Diseases (112) :ORPHA:442835 OMIM:103050 ORPHA:412069 ORPHA:201 ORPHA:100924 OMIM:271980 ORPHA:324422 OMIM:619031 ORPHA:261250 OMIM:617164 ORPHA:3157 ORPHA:567 OMIM:615485 ORPHA:847 ORPHA:904 OMIM:614923 ORPHA:199 OMIM:601005 ORPHA:1606 OMIM:617360 ORPHA:138 OMIM:615032 ORPHA:199318 ORPHA:163681 OMIM:180849 ORPHA:909 ORPHA:468620 OMIM:270400 ORPHA:818 ORPHA:86309 OMIM:274270 OMIM:614104 OMIM:610253 ORPHA:96147 ORPHA:466926 OMIM:610883 ORPHA:461 OMIM:300624 ORPHA:908 ORPHA:51208 OMIM:309549 OMIM:618559 ORPHA:382 OMIM:612718 OMIM:612474 OMIM:301076 OMIM:616973 OMIM:300699 OMIM:619950 ORPHA:1001 OMIM:176270 ORPHA:261265 ORPHA:805 OMIM:613254 OMIM:300143 ORPHA:217377 ORPHA:85279 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:397941 OMIM:300615 OMIM:300496 OMIM:309520 OMIM:300895 ORPHA:369891 OMIM:616789 ORPHA:261190 OMIM:619717 ORPHA:79279 ORPHA:79281 ORPHA:649 OMIM:618286 OMIM:302350 ORPHA:261183 OMIM:300494 OMIM:300425 OMIM:300497 ORPHA:466791 OMIM:300967 OMIM:615722 ORPHA:79254 OMIM:618458 OMIM:614613 ORPHA:280651 ORPHA:3474 ORPHA:570 OMIM:300830 OMIM:605309 ORPHA:1713 ORPHA:459070 OMIM:619229 ORPHA:251019 ORPHA:261197 OMIM:606232 OMIM:613406 OMIM:266265 ORPHA:85278 OMIM:139210 OMIM:209850 OMIM:619475 ORPHA:281090 OMIM:619575 ORPHA:488632 OMIM:606053 ORPHA:1727 OMIM:615314 OMIM:300872 OMIM:191100 ORPHA:238446 ORPHA:506358 OMIM:259050

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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