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:
Abnormality of body weight (HP:0004323)

Parent Node:
Increased body weight (HP:0004324)

..Starting node
..Obesity (HP:0001513)

Term ID:

1513

Name:

Obesity

Synonym:

Having too much body fat; Obesity

Definition:

Accumulation of substantial excess body fat.

Comments:

Reference:

HP:0001513

Genes and Diseases:

Child Nodes:

........

Truncal obesity (HP:0001956)

................... HP:0008915 Childhood-onset truncal obesity

........

Abdominal obesity (HP:0012743)

........

Class I obesity (HP:0025499)

........

Class II obesity (HP:0025500)

........

Class III obesity (HP:0025501)

Sister Nodes:

Large for gestational age (HP:0001520)

Overweight (HP:0025502)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001513	HP:0001513	Obesity	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		826
HP:0001513	HP:0001513	Obesity	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0001513	HP:0001513	Obesity	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare		245
HP:0001513	HP:0001513	Obesity	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0001513	HP:0001513	Obesity	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0001513	HP:0001513	Obesity	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0001513	HP:0001513	Obesity	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0001513	HP:0001513	Obesity	0	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.		5
HP:0001513	HP:0001513	Obesity	0	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.		1
HP:0001513	HP:0001513	Obesity	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0001513	HP:0001513	Obesity	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0001513	HP:0001513	Obesity	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0001513	HP:0001513	Obesity	0	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.		1
HP:0001513	HP:0001513	Obesity	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		175
HP:0001513	HP:0001513	Obesity	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0001513	HP:0001513	Obesity	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0001513	HP:0001513	Obesity	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0001513	HP:0001513	Obesity	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0001513	HP:0001513	Obesity	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0001513	HP:0001513	Obesity	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional		104
HP:0001513	HP:0001513	Obesity	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0001513	HP:0001513	Obesity	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001513	HP:0001513	Obesity	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0001513	HP:0001513	Obesity	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0001513	HP:0001513	Obesity	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare		2
HP:0001513	HP:0001513	Obesity	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		6
HP:0001513	HP:0001513	Obesity	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0001513	HP:0001513	Obesity	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0001513	HP:0001513	Obesity	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		29
HP:0001513	HP:0001513	Obesity	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0001513	HP:0001513	Obesity	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0001513	HP:0001513	Obesity	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		29
HP:0001513	HP:0001513	Obesity	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0001513	HP:0001513	Obesity	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0001513	HP:0001513	Obesity	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0001513	HP:0001513	Obesity	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0001513	HP:0001513	Obesity	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001513	HP:0001513	Obesity	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	HP:0040283 - Occasional		169
HP:0001513	HP:0001513	Obesity	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0001513	HP:0001513	Obesity	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0001513	HP:0001513	Obesity	0	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18	.		1
HP:0001513	HP:0001513	Obesity	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		114
HP:0001513	HP:0001513	Obesity	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0001513	HP:0001513	Obesity	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		114
HP:0001513	HP:0001513	Obesity	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		118
HP:0001513	HP:0001513	Obesity	0	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10	.		118
HP:0001513	HP:0001513	Obesity	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		71
HP:0001513	HP:0001513	Obesity	0	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12	.		71
HP:0001513	HP:0001513	Obesity	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		97
HP:0001513	HP:0001513	Obesity	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001513	HP:0001513	Obesity	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		97
HP:0001513	HP:0001513	Obesity	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		87
HP:0001513	HP:0001513	Obesity	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4	.		87
HP:0001513	HP:0001513	Obesity	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		25
HP:0001513	HP:0001513	Obesity	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0001513	HP:0001513	Obesity	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		66
HP:0001513	HP:0001513	Obesity	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0001513	HP:0001513	Obesity	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		119
HP:0001513	HP:0001513	Obesity	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0001513	HP:0001513	Obesity	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		5
HP:0001513	HP:0001513	Obesity	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		182
HP:0001513	HP:0001513	Obesity	0	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.		75
HP:0001513	HP:0001513	Obesity	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare		75
HP:0001513	HP:0001513	Obesity	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0001513	HP:0001513	Obesity	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001513	HP:0001513	Obesity	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0001513	HP:0001513	Obesity	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001513	HP:0001513	Obesity	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001513	HP:0001513	Obesity	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		23
HP:0001513	HP:0001513	Obesity	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		247
HP:0001513	HP:0001513	Obesity	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001513	HP:0001513	Obesity	0	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.		1
HP:0001513	HP:0001513	Obesity	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001513	HP:0001513	Obesity	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0001513	HP:0001513	Obesity	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001513	HP:0001513	Obesity	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		147
HP:0001513	HP:0001513	Obesity	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare		25
HP:0001513	HP:0001513	Obesity	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0001513	HP:0001513	Obesity	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0001513	HP:0001513	Obesity	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0001513	HP:0001513	Obesity	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0001513	HP:0001513	Obesity	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		342
HP:0001513	HP:0001513	Obesity	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.		342
HP:0001513	HP:0001513	Obesity	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		71
HP:0001513	HP:0001513	Obesity	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0001513	HP:0001513	Obesity	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0001513	HP:0001513	Obesity	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0001513	HP:0001513	Obesity	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		60
HP:0001513	HP:0001513	Obesity	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		44
HP:0001513	HP:0001513	Obesity	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		164
HP:0001513	HP:0001513	Obesity	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001513	HP:0001513	Obesity	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0001513	HP:0001513	Obesity	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional		79
HP:0001513	HP:0001513	Obesity	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001513	HP:0001513	Obesity	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001513	HP:0001513	Obesity	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001513	HP:0001513	Obesity	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		156
HP:0001513	HP:0001513	Obesity	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001513	HP:0001513	Obesity	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0001513	HP:0001513	Obesity	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0001513	HP:0001513	Obesity	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		158
HP:0001513	HP:0001513	Obesity	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0001513	HP:0001513	Obesity	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001513	HP:0001513	Obesity	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0001513	HP:0001513	Obesity	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0001513	HP:0001513	Obesity	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent		11
HP:0001513	HP:0001513	Obesity	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0001513	HP:0001513	Obesity	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001513	HP:0001513	Obesity	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001513	HP:0001513	Obesity	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0001513	HP:0001513	Obesity	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0001513	HP:0001513	Obesity	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001513	HP:0001513	Obesity	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040282 - Frequent		44
HP:0001513	HP:0001513	Obesity	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0001513	HP:0001513	Obesity	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0001513	HP:0001513	Obesity	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3			7
HP:0001513	HP:0001513	Obesity	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001513	HP:0001513	Obesity	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent		223
HP:0001513	HP:0001513	Obesity	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0001513	HP:0001513	Obesity	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001513	HP:0001513	Obesity	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0001513	HP:0001513	Obesity	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001513	HP:0001513	Obesity	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0001513	HP:0001513	Obesity	0	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.		151
HP:0001513	HP:0001513	Obesity	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001513	HP:0001513	Obesity	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0001513	HP:0001513	Obesity	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0001513	HP:0001513	Obesity	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	HP:0040284 - Very rare		3
HP:0001513	HP:0001513	Obesity	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		209
HP:0001513	HP:0001513	Obesity	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		56
HP:0001513	HP:0001513	Obesity	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0001513	HP:0001513	Obesity	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0001513	HP:0001513	Obesity	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0001513	HP:0001513	Obesity	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0001513	HP:0001513	Obesity	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0001513	HP:0001513	Obesity	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0001513	HP:0001513	Obesity	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional		145
HP:0001513	HP:0001513	Obesity	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0001513	HP:0001513	Obesity	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0001513	HP:0001513	Obesity	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0001513	HP:0001513	Obesity	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0001513	HP:0001513	Obesity	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features	HP:0040283 - Occasional		184
HP:0001513	HP:0001513	Obesity	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		26
HP:0001513	HP:0001513	Obesity	0	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14			70
HP:0001513	HP:0001513	Obesity	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001513	HP:0001513	Obesity	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0001513	HP:0001513	Obesity	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001513	HP:0001513	Obesity	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0001513	HP:0001513	Obesity	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare		237
HP:0001513	HP:0001513	Obesity	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001513	HP:0001513	Obesity	0	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.		4
HP:0001513	HP:0001513	Obesity	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001513	HP:0001513	Obesity	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001513	HP:0001513	Obesity	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		101
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0001513	HP:0001513	Obesity	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0001513	HP:0001513	Obesity	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001513	HP:0001513	Obesity	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		36
HP:0001513	HP:0001513	Obesity	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.		8
HP:0001513	HP:0001513	Obesity	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0001513	HP:0001513	Obesity	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional		10
HP:0001513	HP:0001513	Obesity	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0001513	HP:0001513	Obesity	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0001513	HP:0001513	Obesity	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001513	HP:0001513	Obesity	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0001513	HP:0001513	Obesity	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0001513	HP:0001513	Obesity	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001513	HP:0001513	Obesity	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001513	HP:0001513	Obesity	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0001513	HP:0001513	Obesity	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0001513	HP:0001513	Obesity	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		86
HP:0001513	HP:0001513	Obesity	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001513	HP:0001513	Obesity	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		2
HP:0001513	HP:0001513	Obesity	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare		161
HP:0001513	HP:0001513	Obesity	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare		138
HP:0001513	HP:0001513	Obesity	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0001513	HP:0001513	Obesity	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional		5
HP:0001513	HP:0001513	Obesity	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001513	HP:0001513	Obesity	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0001513	HP:0001513	Obesity	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		148
HP:0001513	HP:0001513	Obesity	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		48
HP:0001513	HP:0001513	Obesity	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001513	HP:0001513	Obesity	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0001513	HP:0001513	Obesity	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0001513	HP:0001513	Obesity	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0001513	HP:0001513	Obesity	0	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19	.		1
HP:0001513	HP:0001513	Obesity	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		3
HP:0001513	HP:0001513	Obesity	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0001513	HP:0001513	Obesity	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0001513	HP:0001513	Obesity	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001513	HP:0001513	Obesity	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001513	HP:0001513	Obesity	0	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0001513	HP:0001513	Obesity	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0001513	HP:0001513	Obesity	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		52
HP:0001513	HP:0001513	Obesity	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0001513	HP:0001513	Obesity	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		120
HP:0001513	HP:0001513	Obesity	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0001513	HP:0001513	Obesity	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0001513	HP:0001513	Obesity	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare		62
HP:0001513	HP:0001513	Obesity	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001513	HP:0001513	Obesity	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent		119
HP:0001513	HP:0001513	Obesity	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0001513	HP:0001513	Obesity	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001513	HP:0001513	Obesity	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare		127
HP:0001513	HP:0001513	Obesity	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		10
HP:0001513	HP:0001513	Obesity	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0001513	HP:0001513	Obesity	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001513	HP:0001513	Obesity	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0001513	HP:0001513	Obesity	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0001513	HP:0001513	Obesity	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare		78
HP:0001513	HP:0001513	Obesity	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		42
HP:0001513	HP:0001513	Obesity	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0001513	HP:0001513	Obesity	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0001513	HP:0001513	Obesity	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0001513	HP:0001513	Obesity	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0001513	HP:0001513	Obesity	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	HP:0040280 - Obligate	HP:0011463 - Childhood onset	47
HP:0001513	HP:0001513	Obesity	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040280 - Obligate		47
HP:0001513	HP:0001513	Obesity	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040280 - Obligate	HP:0003593 - Infantile onset	46
HP:0001513	HP:0001513	Obesity	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040280 - Obligate		46
HP:0001513	HP:0001513	Obesity	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0001513	HP:0001513	Obesity	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0001513	HP:0001513	Obesity	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0001513	HP:0001513	Obesity	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		62
HP:0001513	HP:0001513	Obesity	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		4
HP:0001513	HP:0001513	Obesity	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001513	HP:0001513	Obesity	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001513	HP:0001513	Obesity	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001513	HP:0001513	Obesity	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0001513	HP:0001513	Obesity	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		63
HP:0001513	HP:0001513	Obesity	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		63
HP:0001513	HP:0001513	Obesity	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		63
HP:0001513	HP:0001513	Obesity	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0001513	HP:0001513	Obesity	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		53
HP:0001513	HP:0001513	Obesity	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0001513	HP:0001513	Obesity	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001513	HP:0001513	Obesity	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	HP:0040284 - Very rare
HP:0001513	HP:0001513	Obesity	0	MC3R CL E G H	4159	6931	OMIM:602025	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9			2
HP:0001513	HP:0001513	Obesity	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0001513	HP:0001513	Obesity	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040280 - Obligate		54
HP:0001513	HP:0001513	Obesity	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	HP:0040284 - Very rare		3
HP:0001513	HP:0001513	Obesity	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0001513	HP:0001513	Obesity	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional		950
HP:0001513	HP:0001513	Obesity	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		13
HP:0001513	HP:0001513	Obesity	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.		13
HP:0001513	HP:0001513	Obesity	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		75
HP:0001513	HP:0001513	Obesity	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001513	HP:0001513	Obesity	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		69
HP:0001513	HP:0001513	Obesity	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.		69
HP:0001513	HP:0001513	Obesity	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001513	HP:0001513	Obesity	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001513	HP:0001513	Obesity	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		127
HP:0001513	HP:0001513	Obesity	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0001513	HP:0001513	Obesity	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001513	HP:0001513	Obesity	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7	.		1
HP:0001513	HP:0001513	Obesity	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18			1
HP:0001513	HP:0001513	Obesity	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0001513	HP:0001513	Obesity	0	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1			81
HP:0001513	HP:0001513	Obesity	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	HP:0040281 - Very frequent		13
HP:0001513	HP:0001513	Obesity	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0001513	HP:0001513	Obesity	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent
HP:0001513	HP:0001513	Obesity	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent
HP:0001513	HP:0001513	Obesity	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent
HP:0001513	HP:0001513	Obesity	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0001513	HP:0001513	Obesity	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare		32
HP:0001513	HP:0001513	Obesity	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0001513	HP:0001513	Obesity	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0001513	HP:0001513	Obesity	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0001513	HP:0001513	Obesity	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001513	HP:0001513	Obesity	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001513	HP:0001513	Obesity	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001513	HP:0001513	Obesity	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		85
HP:0001513	HP:0001513	Obesity	0	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.		4
HP:0001513	HP:0001513	Obesity	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		58
HP:0001513	HP:0001513	Obesity	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001513	HP:0001513	Obesity	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0001513	HP:0001513	Obesity	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.		8
HP:0001513	HP:0001513	Obesity	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0001513	HP:0001513	Obesity	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		121
HP:0001513	HP:0001513	Obesity	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		121
HP:0001513	HP:0001513	Obesity	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		121
HP:0001513	HP:0001513	Obesity	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		201
HP:0001513	HP:0001513	Obesity	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0001513	HP:0001513	Obesity	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0001513	HP:0001513	Obesity	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		2
HP:0001513	HP:0001513	Obesity	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001513	HP:0001513	Obesity	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare		55
HP:0001513	HP:0001513	Obesity	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		194
HP:0001513	HP:0001513	Obesity	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0001513	HP:0001513	Obesity	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001513	HP:0001513	Obesity	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0001513	HP:0001513	Obesity	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040280 - Obligate		65
HP:0001513	HP:0001513	Obesity	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.		65
HP:0001513	HP:0001513	Obesity	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001513	HP:0001513	Obesity	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0001513	HP:0001513	Obesity	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001513	HP:0001513	Obesity	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0001513	HP:0001513	Obesity	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		113
HP:0001513	HP:0001513	Obesity	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0001513	HP:0001513	Obesity	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		116
HP:0001513	HP:0001513	Obesity	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		126
HP:0001513	HP:0001513	Obesity	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		18
HP:0001513	HP:0001513	Obesity	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001513	HP:0001513	Obesity	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0001513	HP:0001513	Obesity	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0001513	HP:0001513	Obesity	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare		30
HP:0001513	HP:0001513	Obesity	0	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0001513	HP:0001513	Obesity	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0001513	HP:0001513	Obesity	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0001513	HP:0001513	Obesity	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0001513	HP:0001513	Obesity	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001513	HP:0001513	Obesity	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0001513	HP:0001513	Obesity	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0001513	HP:0001513	Obesity	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001513	HP:0001513	Obesity	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040282 - Frequent		244
HP:0001513	HP:0001513	Obesity	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040281 - Very frequent		103
HP:0001513	HP:0001513	Obesity	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0001513	HP:0001513	Obesity	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001513	HP:0001513	Obesity	0	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.		27
HP:0001513	HP:0001513	Obesity	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040280 - Obligate		27
HP:0001513	HP:0001513	Obesity	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0001513	HP:0001513	Obesity	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		180
HP:0001513	HP:0001513	Obesity	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0001513	HP:0001513	Obesity	0	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.		42
HP:0001513	HP:0001513	Obesity	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		39
HP:0001513	HP:0001513	Obesity	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001513	HP:0001513	Obesity	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001513	HP:0001513	Obesity	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		134
HP:0001513	HP:0001513	Obesity	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001513	HP:0001513	Obesity	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0001513	HP:0001513	Obesity	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001513	HP:0001513	Obesity	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0001513	HP:0001513	Obesity	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0001513	HP:0001513	Obesity	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent		6
HP:0001513	HP:0001513	Obesity	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	HP:0040283 - Occasional		9
HP:0001513	HP:0001513	Obesity	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0001513	HP:0001513	Obesity	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0001513	HP:0001513	Obesity	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0001513	HP:0001513	Obesity	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		110
HP:0001513	HP:0001513	Obesity	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001513	HP:0001513	Obesity	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0001513	HP:0001513	Obesity	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		70
HP:0001513	HP:0001513	Obesity	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0001513	HP:0001513	Obesity	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		51
HP:0001513	HP:0001513	Obesity	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		94
HP:0001513	HP:0001513	Obesity	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		159
HP:0001513	HP:0001513	Obesity	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001513	HP:0001513	Obesity	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.		948
HP:0001513	HP:0001513	Obesity	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001513	HP:0001513	Obesity	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001513	HP:0001513	Obesity	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		31
HP:0001513	HP:0001513	Obesity	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001513	HP:0001513	Obesity	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001513	HP:0001513	Obesity	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0001513	HP:0001513	Obesity	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0001513	HP:0001513	Obesity	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		108
HP:0001513	HP:0001513	Obesity	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0001513	HP:0001513	Obesity	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0001513	HP:0001513	Obesity	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001513	HP:0001513	Obesity	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0001513	HP:0001513	Obesity	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		107
HP:0001513	HP:0001513	Obesity	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0001513	HP:0001513	Obesity	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0001513	HP:0001513	Obesity	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		38
HP:0001513	HP:0001513	Obesity	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		111
HP:0001513	HP:0001513	Obesity	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		284
HP:0001513	HP:0001513	Obesity	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0001513	HP:0001513	Obesity	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0001513	HP:0001513	Obesity	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		129
HP:0001513	HP:0001513	Obesity	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		200
HP:0001513	HP:0001513	Obesity	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional		65
HP:0001513	HP:0001513	Obesity	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		32
HP:0001513	HP:0001513	Obesity	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001513	HP:0001513	Obesity	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0001513	HP:0001513	Obesity	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.		2
HP:0001513	HP:0001513	Obesity	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		61
HP:0001513	HP:0001513	Obesity	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0001513	HP:0001513	Obesity	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001513	HP:0001513	Obesity	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0001513	HP:0001513	Obesity	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0001513	HP:0001513	Obesity	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0001513	HP:0001513	Obesity	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001513	HP:0001513	Obesity	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001513	HP:0001513	Obesity	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040281 - Very frequent
HP:0001513	HP:0001513	Obesity	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.		2
HP:0001513	HP:0001513	Obesity	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0001513	HP:0001513	Obesity	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040282 - Frequent		66
HP:0001513	HP:0001513	Obesity	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0001513	HP:0001513	Obesity	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent		40
HP:0001513	HP:0001513	Obesity	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		40
HP:0001513	HP:0001513	Obesity	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0001513	HP:0001513	Obesity	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001513	HP:0001513	Obesity	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001513	HP:0001513	Obesity	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0001513	HP:0001513	Obesity	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	HP:0040283 - Occasional		68
HP:0001513	HP:0001513	Obesity	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0001513	HP:0001513	Obesity	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001513	HP:0001513	Obesity	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001513	HP:0001513	Obesity	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0001513	HP:0001513	Obesity	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0001513	HP:0001513	Obesity	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001513	HP:0001513	Obesity	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001513	HP:0001513	Obesity	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0001513	HP:0001513	Obesity	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001513	HP:0001513	Obesity	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001513	HP:0001513	Obesity	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		83
HP:0001513	HP:0001513	Obesity	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0001513	HP:0001513	Obesity	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0001513	HP:0001513	Obesity	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0001513	HP:0001513	Obesity	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		37
HP:0001513	HP:0001513	Obesity	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		37
HP:0001513	HP:0001513	Obesity	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		37
HP:0001513	HP:0001513	Obesity	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040281 - Very frequent		37
HP:0001513	HP:0001513	Obesity	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0001513	HP:0001513	Obesity	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0001513	HP:0001513	Obesity	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0001513	HP:0001513	Obesity	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0001513	HP:0001513	Obesity	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001513	HP:0001513	Obesity	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001513	HP:0001513	Obesity	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0001513	HP:0001513	Obesity	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0001513	HP:0001513	Obesity	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0001513	HP:0001513	Obesity	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001513	HP:0001513	Obesity	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0001513	HP:0001513	Obesity	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0001513	HP:0001513	Obesity	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		86
HP:0001513	HP:0001513	Obesity	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0001513	HP:0001513	Obesity	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		1129
HP:0001513	HP:0001513	Obesity	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		508
HP:0001513	HP:0001513	Obesity	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0001513	HP:0001513	Obesity	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0001513	HP:0001513	Obesity	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001513	HP:0001513	Obesity	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0001513	HP:0001513	Obesity	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent		100
HP:0001513	HP:0001513	Obesity	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0001513	HP:0001513	Obesity	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	HP:0040284 - Very rare		1
HP:0001513	HP:0001513	Obesity	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0001513	HP:0001513	Obesity	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001513	HP:0001513	Obesity	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001513	HP:0001513	Obesity	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		171
HP:0001513	HP:0001513	Obesity	0	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14	.		166
HP:0001513	HP:0001513	Obesity	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001513	HP:0001513	Obesity	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		61
HP:0001513	HP:0001513	Obesity	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001513	HP:0001513	Obesity	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional		6
HP:0001513	HP:0001513	Obesity	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0001513	HP:0001513	Obesity	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0001513	HP:0001513	Obesity	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		108
HP:0001513	HP:0001513	Obesity	0	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11	.		108
HP:0001513	HP:0001513	Obesity	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	HP:0040284 - Very rare		2
HP:0001513	HP:0001513	Obesity	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		41
HP:0001513	HP:0001513	Obesity	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.		41
HP:0001513	HP:0001513	Obesity	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		41
HP:0001513	HP:0001513	Obesity	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	HP:0040283 - Occasional		1
HP:0001513	HP:0001513	Obesity	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0001513	HP:0001513	Obesity	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		66
HP:0001513	HP:0001513	Obesity	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0001513	HP:0001513	Obesity	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0001513	HP:0001513	Obesity	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0001513	HP:0001513	Obesity	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0001513	HP:0001513	Obesity	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.		6
HP:0001513	HP:0001513	Obesity	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001513	Obesity	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		777
HP:0001513	HP:0001513	Obesity	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001513	HP:0001513	Obesity	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001513	HP:0001513	Obesity	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0001513	HP:0001513	Obesity	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001513	HP:0001513	Obesity	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001513	HP:0001513	Obesity	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001513	HP:0001513	Obesity	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0001513	HP:0001513	Obesity	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		60
HP:0001513	HP:0001513	Obesity	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0001513	HP:0001513	Obesity	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040282 - Frequent		4
HP:0001513	HP:0001513	Obesity	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		177
HP:0001513	HP:0001513	Obesity	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0001513	HP:0001513	Obesity	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001513	HP:0001513	Obesity	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001513	HP:0001513	Obesity	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0001513	HP:0001513	Obesity	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001513	HP:0001513	Obesity	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		3
HP:0001513	HP:0001513	Obesity	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0001513	HP:0001513	Obesity	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		27
HP:0001513	HP:0001513	Obesity	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0001513	HP:0001513	Obesity	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001513	HP:0025500	Class II obesity	1	CL E G H
HP:0001513	HP:0025499	Class I obesity	1	CL E G H
HP:0001513	HP:0025501	Class III obesity	1	CL E G H
HP:0001513	HP:0001956	Truncal obesity	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0001513	HP:0012743	Abdominal obesity	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0001513	HP:0001956	Truncal obesity	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0001513	HP:0001956	Truncal obesity	1	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0001513	HP:0001956	Truncal obesity	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0001513	HP:0001956	Truncal obesity	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0001513	HP:0012743	Abdominal obesity	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001513	HP:0001956	Truncal obesity	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001513	HP:0012743	Abdominal obesity	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	HP:0040283 - Occasional		7
HP:0001513	HP:0012743	Abdominal obesity	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0001513	HP:0001956	Truncal obesity	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		169
HP:0001513	HP:0012743	Abdominal obesity	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001513	HP:0001956	Truncal obesity	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001513	HP:0012743	Abdominal obesity	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001513	HP:0001956	Truncal obesity	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0001513	HP:0012743	Abdominal obesity	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0001513	HP:0001956	Truncal obesity	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0001513	HP:0001956	Truncal obesity	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		276
HP:0001513	HP:0012743	Abdominal obesity	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001513	HP:0001956	Truncal obesity	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001513	HP:0001956	Truncal obesity	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001513	HP:0012743	Abdominal obesity	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001513	HP:0012743	Abdominal obesity	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001513	HP:0001956	Truncal obesity	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		636
HP:0001513	HP:0001956	Truncal obesity	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001513	HP:0012743	Abdominal obesity	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001513	HP:0001956	Truncal obesity	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001513	HP:0001956	Truncal obesity	1	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.		7
HP:0001513	HP:0012743	Abdominal obesity	1	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.		7
HP:0001513	HP:0001956	Truncal obesity	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001513	HP:0001956	Truncal obesity	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent		30
HP:0001513	HP:0001956	Truncal obesity	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent		98
HP:0001513	HP:0001956	Truncal obesity	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001513	HP:0001956	Truncal obesity	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001513	HP:0001956	Truncal obesity	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0001513	HP:0012743	Abdominal obesity	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0001513	HP:0001956	Truncal obesity	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0001513	HP:0001956	Truncal obesity	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0001513	HP:0001956	Truncal obesity	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0001513	HP:0012743	Abdominal obesity	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.		38
HP:0001513	HP:0001956	Truncal obesity	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0001513	HP:0001956	Truncal obesity	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001513	HP:0001956	Truncal obesity	1	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040282 - Frequent		53
HP:0001513	HP:0001956	Truncal obesity	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0001513	HP:0001956	Truncal obesity	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent		111
HP:0001513	HP:0012743	Abdominal obesity	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0001513	HP:0001956	Truncal obesity	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0001513	HP:0012743	Abdominal obesity	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.		7
HP:0001513	HP:0012743	Abdominal obesity	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0001513	HP:0012743	Abdominal obesity	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.		63
HP:0001513	HP:0001956	Truncal obesity	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent		93
HP:0001513	HP:0001956	Truncal obesity	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001513	HP:0001956	Truncal obesity	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0001513	HP:0001956	Truncal obesity	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001513	HP:0012743	Abdominal obesity	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.		5
HP:0001513	HP:0012743	Abdominal obesity	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0001513	HP:0012743	Abdominal obesity	1	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1	.		81
HP:0001513	HP:0001956	Truncal obesity	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0001513	HP:0012743	Abdominal obesity	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001513	HP:0012743	Abdominal obesity	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.		1
HP:0001513	HP:0001956	Truncal obesity	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		79
HP:0001513	HP:0012743	Abdominal obesity	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001513	HP:0001956	Truncal obesity	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0001513	HP:0001956	Truncal obesity	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0001513	HP:0001956	Truncal obesity	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0001513	HP:0012743	Abdominal obesity	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001513	HP:0001956	Truncal obesity	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0001513	HP:0012743	Abdominal obesity	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001513	HP:0012743	Abdominal obesity	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001513	HP:0001956	Truncal obesity	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0001513	HP:0001956	Truncal obesity	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001513	HP:0001956	Truncal obesity	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0001513	HP:0012743	Abdominal obesity	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001513	HP:0012743	Abdominal obesity	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001513	HP:0001956	Truncal obesity	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0001513	HP:0012743	Abdominal obesity	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001513	HP:0001956	Truncal obesity	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		4
HP:0001513	HP:0012743	Abdominal obesity	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0001513	HP:0012743	Abdominal obesity	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0001513	HP:0001956	Truncal obesity	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0001513	HP:0001956	Truncal obesity	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0001513	HP:0012743	Abdominal obesity	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0001513	HP:0001956	Truncal obesity	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001513	HP:0012743	Abdominal obesity	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0001513	HP:0001956	Truncal obesity	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0001513	HP:0001956	Truncal obesity	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0001513	HP:0001956	Truncal obesity	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0001513	HP:0001956	Truncal obesity	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0001513	HP:0012743	Abdominal obesity	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0001513	HP:0012743	Abdominal obesity	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0001513	HP:0001956	Truncal obesity	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001513	HP:0012743	Abdominal obesity	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001513	HP:0001956	Truncal obesity	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		911
HP:0001513	HP:0001956	Truncal obesity	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional		158
HP:0001513	HP:0012743	Abdominal obesity	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001513	HP:0001956	Truncal obesity	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		1
HP:0001513	HP:0001956	Truncal obesity	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		7
HP:0001513	HP:0012743	Abdominal obesity	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001513	HP:0012743	Abdominal obesity	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0001513	HP:0001956	Truncal obesity	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001513	HP:0001956	Truncal obesity	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0001513	HP:0001956	Truncal obesity	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	HP:0040283 - Occasional		9
HP:0001513	HP:0001956	Truncal obesity	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001513	HP:0001956	Truncal obesity	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional		14
HP:0001513	HP:0001956	Truncal obesity	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001513	HP:0012743	Abdominal obesity	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001513	HP:0008915	Childhood-onset truncal obesity	2	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0001513	HP:0008915	Childhood-onset truncal obesity	2	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040282 - Frequent		54
HP:0001513	HP:0008915	Childhood-onset truncal obesity	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent		65
HP:0001513	HP:0008915	Childhood-onset truncal obesity	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent		27
HP:0001513	HP:0008915	Childhood-onset truncal obesity	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546

Genes (413) :ABCA4 ABCB4 ABCC8 ACADVL ADCY3 ADNP ADRB2 ADRB3 AFF4 AGBL5 AGRP AHI1 AHR AIP AKT1 AKT2 ALB ALMS1 ANOS1 APOE APPL1 ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARMC5 ARNT2 ARVCF ATP10A ATP6AP2 ATRX BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BDNF BEST1 BLK BLM BPTF BRAF BRD4 BUD23 CA4 CACNA1S CANT1 CARTPT CASZ1 CCDC141 CCDC28B CDH23 CDHR1 CEL CELA2A CEP164 CEP19 CEP290 CERKL CFAP418 CHD7 CLIP2 CLRN1 CNGA1 CNGB1 CNTNAP2 COA3 COL10A1 COMT COPB1 CPE CRB1 CREBBP CRX CTNNB1 CTSH CUL4B CYP19A1 CYP7A1 DCC DDB1 DDX6 DEAF1 DHDDS DHX38 DLK1 DMPK DNAJC30 DNMT3A DPYD DUSP6 DYNC2I2 DYRK1B EHMT1 EIF2S3 EIF4H ELN EMD ENPP1 EP300 ERMARD EXOC6B EYS FAM161A FBXO11 FEZF1 FGF17 FGF8 FGFR1 FGFR3 FHL1 FKBP6 FLII FLRT3 FMR1 FOXP1 FSCN2 FTO FXR1 GABRA3 GABRD GATA4 GCK GHR GHRL GJA5 GJA8 GNAI1 GNAS GNAS-AS1 GP1BB GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H6PD HACE1 HCRT HDAC4 HDAC8 HEATR3 HERC2 HESX1 HGSNAT HIRA HLA-DQB1 HLA-DRB1 HNF1A HNF4A HS6ST1 HSD11B1 HSPG2 IDH3A IDH3B IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IGF1R IGFALS IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INS IPW IQSEC2 JMJD1C KCNAB2 KCNJ11 KCNJ18 KDM6A KIAA1549 KIDINS220 KIZ KLF11 KLHL7 KMT2D LARS2 LAS1L LEP LEPR LIMK1 LIPE LMNA LRAT LUZP1 LZTFL1 MAGEL2 MAK MAN1B1 MAPK8IP3 MC3R MC4R MCM3AP MECP2 MEG3 MEGF8 MERTK METTL27 MIA3 MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP23B MOG MRAP2 MTFMT MTTP MYT1L NCF1 NDN NDNF NEK2 NEUROD1 NF2 NHLH2 NIN NIPBL NKAP NPAP1 NPHP1 NR0B2 NR2E3 NR3C1 NRL NTRK2 OCA2 OFD1 OTX2 P2RY11 P4HTM PAX4 PAX6 PCARE PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PDGFB PDPN PDSS1 PDX1 PHF21A PHF6 PHIP PIGA PIGT PIK3CA PKDCC PNKP PNPLA6 POGZ POMC POMGNT1 POU3F4 PPARG PRCD PRDM16 PRKACA PRKAR1A PRKAR1B PRKCZ PRMT7 PROK2 PROKR2 PROM1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMD12 PTEN PWAR1 PWRN1 RAB23 RAD21 RAI1 RBMX RBP3 RDH12 REEP6 RERE RFC2 RGR RHO RLBP1 RNPC3 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPS6KA3 RREB1 RTL1 SAG SATB1 SCAPER SDC3 SDCCAG8 SEC24C SECISBP2 SEMA3A SEMA4A SETBP1 SETD1A SETD2 SH2B1 SH3KBP1 SHANK3 SHOX SIM1 SIN3A SKI SLC10A7 SLC25A4 SLC7A14 SLC7A7 SMAD4 SMARCB1 SMARCE1 SMC1A SMC3 SMO SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOX10 SOX2 SOX3 SPATA7 SPEN SPG11 SPRY4 SPTBN1 SRY STEEP1 STX16 STX1A SUFU SYNE1 SYNE2 TACR3 TAF1 TBC1D2B TBL2 TBX1 TBX3 TCF20 TERT TFE3 THOC2 TMEM270 TMEM43 TMEM67 TNFSF4 TOGARAM1 TOPORS TP53 TRAF3IP1 TRAF7 TRAPPC9 TRIM32 TRIP12 TTC8 TUB TULP1 UBE3A UBE4B UCP3 UFD1 USH2A USP48 USP8 VPS13B VPS37D WAC WDPCP WDR11 WNT4 WT1 XRCC4 XYLT1 ZBTB20 ZNF365 ZNF408 ZNF513 ZNF711 ZPR1

Diseases (263) :ORPHA:791 ORPHA:69663 ORPHA:552 ORPHA:26793 OMIM:617885 ORPHA:404448 OMIM:615873 OMIM:601665 OMIM:616368 ORPHA:444077 OMIM:219090 ORPHA:2495 ORPHA:293964 OMIM:240900 ORPHA:86816 ORPHA:64 OMIM:203800 ORPHA:478 ORPHA:412 OMIM:612291 ORPHA:110 OMIM:209900 OMIM:600151 OMIM:615954 ORPHA:189427 ORPHA:3157 ORPHA:567 ORPHA:411515 ORPHA:93952 ORPHA:96253 OMIM:309580 ORPHA:904 OMIM:615995 OMIM:615987 OMIM:615989 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615986 ORPHA:893 OMIM:613375 ORPHA:125 ORPHA:529962 ORPHA:54595 ORPHA:199 ORPHA:79102 OMIM:251450 ORPHA:1606 OMIM:618620 OMIM:614845 OMIM:615703 OMIM:615991 OMIM:617406 ORPHA:163681 OMIM:619058 ORPHA:174 OMIM:619255 OMIM:619326 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:2073 OMIM:300354 ORPHA:85293 ORPHA:91 ORPHA:209902 OMIM:619426 OMIM:618653 ORPHA:819 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:589821 ORPHA:404443 ORPHA:293948 OMIM:615633 OMIM:615812 OMIM:610253 ORPHA:96147 ORPHA:85282 OMIM:300148 OMIM:194050 ORPHA:98863 ORPHA:353284 ORPHA:75857 OMIM:618395 OMIM:618089 ORPHA:15 ORPHA:261483 OMIM:613670 OMIM:612460 OMIM:618822 ORPHA:251071 ORPHA:633 OMIM:612474 OMIM:619854 OMIM:219080 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 OMIM:612463 ORPHA:79445 OMIM:604931 OMIM:616756 ORPHA:464282 ORPHA:1001 OMIM:600430 OMIM:300882 ORPHA:3459 OMIM:620072 OMIM:176270 OMIM:614662 OMIM:619471 OMIM:615630 OMIM:615996 OMIM:617119 ORPHA:73272 OMIM:270450 ORPHA:140941 OMIM:610156 ORPHA:75858 ORPHA:217377 ORPHA:2322 OMIM:617296 ORPHA:521390 OMIM:615300 OMIM:309585 OMIM:614962 ORPHA:66628 OMIM:614963 ORPHA:179494 OMIM:615980 ORPHA:98853 ORPHA:98855 OMIM:615994 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 ORPHA:397941 OMIM:614202 OMIM:618443 OMIM:602025 OMIM:618406 ORPHA:71529 OMIM:618124 OMIM:300055 ORPHA:3077 ORPHA:65759 OMIM:614976 OMIM:619269 OMIM:605231 OMIM:615990 OMIM:614250 OMIM:615457 OMIM:614947 OMIM:605552 OMIM:616521 OMIM:619755 ORPHA:319675 OMIM:301039 OMIM:613886 ORPHA:98794 OMIM:300209 OMIM:618493 OMIM:194072 ORPHA:2637 OMIM:210720 ORPHA:71528 OMIM:600955 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:614651 OMIM:618725 OMIM:301900 ORPHA:127 OMIM:617991 OMIM:301072 ORPHA:369837 OMIM:618821 ORPHA:459033 ORPHA:2377 ORPHA:468678 OMIM:616364 ORPHA:71526 OMIM:609734 ORPHA:1435 OMIM:610489 OMIM:619680 OMIM:617157 ORPHA:464288 OMIM:610628 OMIM:619737 OMIM:605309 OMIM:201000 OMIM:300238 OMIM:618160 ORPHA:276630 OMIM:619229 OMIM:615993 ORPHA:171706 OMIM:616078 OMIM:619056 OMIM:616831 ORPHA:261222 ORPHA:261197 ORPHA:329249 OMIM:300310 ORPHA:48652 ORPHA:314795 ORPHA:171829 ORPHA:369873 ORPHA:398079 ORPHA:94065 OMIM:613406 OMIM:618363 OMIM:615418 OMIM:222700 OMIM:139210 OMIM:105830 ORPHA:177907 OMIM:619312 ORPHA:2822 OMIM:604360 OMIM:619475 ORPHA:1772 OMIM:301013 ORPHA:480907 ORPHA:397973 OMIM:188400 ORPHA:3138 OMIM:181450 OMIM:618430 OMIM:301066 OMIM:300957 OMIM:619185 OMIM:616629 ORPHA:352530 OMIM:613192 OMIM:615988 OMIM:617752 OMIM:615985 OMIM:616188 ORPHA:411511 OMIM:216550 ORPHA:193 ORPHA:466950 ORPHA:247768 OMIM:616541 OMIM:615777 ORPHA:370930 OMIM:259050 OMIM:300803 OMIM:619321

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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