Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Growth abnormality (HP:0001507)

Parent Node:
Abnormality of body weight (HP:0004323)

..Starting node
..Increased body weight (HP:0004324)

Term ID:

4324

Name:

Increased body weight

Synonym:

Increased body weight; Weight gain

Definition:

Abnormally increased body weight.

Comments:

Reference:

HP:0004324

Genes and Diseases:

Child Nodes:

........

Obesity (HP:0001513)

................... HP:0001956 Truncal obesity
................... HP:0012743 Abdominal obesity
................... HP:0025499 Class I obesity
................... HP:0025500 Class II obesity
................... HP:0025501 Class III obesity

........

Large for gestational age (HP:0001520)

........

Overweight (HP:0025502)

Sister Nodes:

Abnormal waist to hip ratio (HP:0031818)

Abnormality of body mass index (HP:0045081)

Decreased body weight (HP:0004325)

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:0004324	HP:0004324	Increased body weight	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0004324	HP:0004324	Increased body weight	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0004324	HP:0004324	Increased body weight	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0004324	HP:0004324	Increased body weight	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0004324	HP:0004324	Increased body weight	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0004324	HP:0004324	Increased body weight	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0004324	HP:0004324	Increased body weight	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0004324	HP:0004324	Increased body weight	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0004324	HP:0004324	Increased body weight	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0004324	HP:0004324	Increased body weight	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0004324	HP:0004324	Increased body weight	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0004324	HP:0004324	Increased body weight	0	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY			5
HP:0004324	HP:0004324	Increased body weight	0	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY			1
HP:0004324	HP:0004324	Increased body weight	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0004324	HP:0004324	Increased body weight	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0004324	HP:0004324	Increased body weight	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0004324	HP:0004324	Increased body weight	0	AGRP CL E G H	181	330	OMIM:601665	OBESITY			1
HP:0004324	HP:0004324	Increased body weight	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0004324	HP:0004324	Increased body weight	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0004324	HP:0004324	Increased body weight	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0004324	HP:0004324	Increased body weight	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0004324	HP:0004324	Increased body weight	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0004324	HP:0004324	Increased body weight	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0004324	HP:0004324	Increased body weight	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0004324	HP:0004324	Increased body weight	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0004324	HP:0004324	Increased body weight	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0004324	HP:0004324	Increased body weight	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0004324	HP:0004324	Increased body weight	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0004324	HP:0004324	Increased body weight	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0004324	HP:0004324	Increased body weight	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0004324	HP:0004324	Increased body weight	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0004324	HP:0004324	Increased body weight	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0004324	HP:0004324	Increased body weight	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0004324	HP:0004324	Increased body weight	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0004324	HP:0004324	Increased body weight	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0004324	HP:0004324	Increased body weight	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0004324	HP:0004324	Increased body weight	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0004324	HP:0004324	Increased body weight	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0004324	HP:0004324	Increased body weight	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0004324	HP:0004324	Increased body weight	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0004324	HP:0004324	Increased body weight	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0004324	HP:0004324	Increased body weight	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0004324	HP:0004324	Increased body weight	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	HP:0040283 - Occasional		7
HP:0004324	HP:0004324	Increased body weight	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0004324	HP:0004324	Increased body weight	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0004324	HP:0004324	Increased body weight	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0004324	HP:0004324	Increased body weight	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0004324	HP:0004324	Increased body weight	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0004324	HP:0004324	Increased body weight	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0004324	HP:0004324	Increased body weight	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0004324	HP:0004324	Increased body weight	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0004324	HP:0004324	Increased body weight	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0004324	HP:0004324	Increased body weight	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0004324	HP:0004324	Increased body weight	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0004324	HP:0004324	Increased body weight	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0004324	HP:0004324	Increased body weight	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0004324	HP:0004324	Increased body weight	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0004324	HP:0004324	Increased body weight	0	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10			118
HP:0004324	HP:0004324	Increased body weight	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0004324	HP:0004324	Increased body weight	0	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12			71
HP:0004324	HP:0004324	Increased body weight	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0004324	HP:0004324	Increased body weight	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0004324	HP:0004324	Increased body weight	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0004324	HP:0004324	Increased body weight	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0004324	HP:0004324	Increased body weight	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0004324	HP:0004324	Increased body weight	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0004324	HP:0004324	Increased body weight	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0004324	HP:0004324	Increased body weight	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0004324	HP:0004324	Increased body weight	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0004324	HP:0004324	Increased body weight	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0004324	HP:0004324	Increased body weight	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0004324	HP:0004324	Increased body weight	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0004324	HP:0004324	Increased body weight	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0004324	HP:0004324	Increased body weight	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0004324	HP:0004324	Increased body weight	0	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11			75
HP:0004324	HP:0004324	Increased body weight	0	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0004324	HP:0004324	Increased body weight	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0004324	HP:0004324	Increased body weight	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0004324	HP:0004324	Increased body weight	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0004324	HP:0004324	Increased body weight	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0004324	HP:0004324	Increased body weight	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0004324	HP:0004324	Increased body weight	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0004324	HP:0004324	Increased body weight	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0004324	HP:0004324	Increased body weight	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0004324	HP:0004324	Increased body weight	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0004324	HP:0004324	Increased body weight	0	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY			1
HP:0004324	HP:0004324	Increased body weight	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0004324	HP:0004324	Increased body weight	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0004324	HP:0004324	Increased body weight	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0004324	HP:0004324	Increased body weight	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		39
HP:0004324	HP:0004324	Increased body weight	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0004324	HP:0004324	Increased body weight	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0004324	HP:0004324	Increased body weight	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0004324	HP:0004324	Increased body weight	0	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0004324	HP:0004324	Increased body weight	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0004324	HP:0004324	Increased body weight	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0004324	HP:0004324	Increased body weight	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0004324	HP:0004324	Increased body weight	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0004324	HP:0004324	Increased body weight	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0004324	HP:0004324	Increased body weight	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0004324	HP:0004324	Increased body weight	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0004324	HP:0004324	Increased body weight	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0004324	HP:0004324	Increased body weight	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0004324	HP:0004324	Increased body weight	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		86
HP:0004324	HP:0004324	Increased body weight	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		57
HP:0004324	HP:0004324	Increased body weight	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0004324	HP:0004324	Increased body weight	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0004324	HP:0004324	Increased body weight	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0004324	HP:0004324	Increased body weight	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0004324	HP:0004324	Increased body weight	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0004324	HP:0004324	Increased body weight	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0004324	HP:0004324	Increased body weight	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0004324	HP:0004324	Increased body weight	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0004324	HP:0004324	Increased body weight	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0004324	HP:0004324	Increased body weight	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0004324	HP:0004324	Increased body weight	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0004324	HP:0004324	Increased body weight	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0004324	HP:0004324	Increased body weight	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0004324	HP:0004324	Increased body weight	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0004324	HP:0004324	Increased body weight	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0004324	HP:0004324	Increased body weight	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0004324	HP:0004324	Increased body weight	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0004324	HP:0004324	Increased body weight	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0004324	HP:0004324	Increased body weight	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1			1
HP:0004324	HP:0004324	Increased body weight	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0004324	HP:0004324	Increased body weight	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0004324	HP:0004324	Increased body weight	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0004324	HP:0004324	Increased body weight	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0004324	HP:0004324	Increased body weight	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0004324	HP:0004324	Increased body weight	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0004324	HP:0004324	Increased body weight	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0004324	HP:0004324	Increased body weight	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004324	HP:0004324	Increased body weight	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0004324	HP:0004324	Increased body weight	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0004324	HP:0004324	Increased body weight	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0004324	HP:0004324	Increased body weight	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0004324	HP:0004324	Increased body weight	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0004324	HP:0004324	Increased body weight	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0004324	HP:0004324	Increased body weight	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0004324	HP:0004324	Increased body weight	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0004324	HP:0004324	Increased body weight	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0004324	HP:0004324	Increased body weight	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0004324	HP:0004324	Increased body weight	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0004324	HP:0004324	Increased body weight	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0004324	HP:0004324	Increased body weight	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0004324	HP:0004324	Increased body weight	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0004324	HP:0004324	Increased body weight	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0004324	HP:0004324	Increased body weight	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3			7
HP:0004324	HP:0004324	Increased body weight	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0004324	HP:0004324	Increased body weight	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0004324	HP:0004324	Increased body weight	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0004324	HP:0004324	Increased body weight	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0004324	HP:0004324	Increased body weight	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0004324	HP:0004324	Increased body weight	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0004324	HP:0004324	Increased body weight	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0004324	HP:0004324	Increased body weight	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0004324	HP:0004324	Increased body weight	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0004324	HP:0004324	Increased body weight	0	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY			151
HP:0004324	HP:0004324	Increased body weight	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0004324	HP:0004324	Increased body weight	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0004324	HP:0004324	Increased body weight	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0004324	HP:0004324	Increased body weight	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0004324	HP:0004324	Increased body weight	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0004324	HP:0004324	Increased body weight	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0004324	HP:0004324	Increased body weight	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0004324	HP:0004324	Increased body weight	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0004324	HP:0004324	Increased body weight	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0004324	HP:0004324	Increased body weight	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0004324	HP:0004324	Increased body weight	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0004324	HP:0004324	Increased body weight	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0004324	HP:0004324	Increased body weight	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0004324	HP:0004324	Increased body weight	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0004324	HP:0004324	Increased body weight	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0004324	HP:0004324	Increased body weight	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0004324	HP:0004324	Increased body weight	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0004324	HP:0004324	Increased body weight	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0004324	HP:0004324	Increased body weight	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0004324	HP:0004324	Increased body weight	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0004324	HP:0004324	Increased body weight	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0004324	HP:0004324	Increased body weight	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0004324	HP:0004324	Increased body weight	0	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14			70
HP:0004324	HP:0004324	Increased body weight	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0004324	HP:0004324	Increased body weight	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0004324	HP:0004324	Increased body weight	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0004324	HP:0004324	Increased body weight	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0004324	HP:0004324	Increased body weight	0	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0004324	HP:0004324	Increased body weight	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0004324	HP:0004324	Increased body weight	0	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY			4
HP:0004324	HP:0004324	Increased body weight	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0004324	HP:0004324	Increased body weight	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0004324	HP:0004324	Increased body weight	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0004324	HP:0004324	Increased body weight	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0004324	HP:0004324	Increased body weight	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB			1
HP:0004324	HP:0004324	Increased body weight	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0004324	HP:0004324	Increased body weight	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0004324	HP:0004324	Increased body weight	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1			8
HP:0004324	HP:0004324	Increased body weight	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0004324	HP:0004324	Increased body weight	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0004324	HP:0004324	Increased body weight	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1			1
HP:0004324	HP:0004324	Increased body weight	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0004324	HP:0004324	Increased body weight	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0004324	HP:0004324	Increased body weight	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0004324	HP:0004324	Increased body weight	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0004324	HP:0004324	Increased body weight	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0004324	HP:0004324	Increased body weight	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0004324	HP:0004324	Increased body weight	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0004324	HP:0004324	Increased body weight	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0004324	HP:0004324	Increased body weight	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0004324	HP:0004324	Increased body weight	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0004324	HP:0004324	Increased body weight	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0004324	HP:0004324	Increased body weight	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0004324	HP:0004324	Increased body weight	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0004324	HP:0004324	Increased body weight	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0004324	HP:0004324	Increased body weight	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0004324	HP:0004324	Increased body weight	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0004324	HP:0004324	Increased body weight	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1			2
HP:0004324	HP:0004324	Increased body weight	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0004324	HP:0004324	Increased body weight	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0004324	HP:0004324	Increased body weight	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0004324	HP:0004324	Increased body weight	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0004324	HP:0004324	Increased body weight	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0004324	HP:0004324	Increased body weight	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0004324	HP:0004324	Increased body weight	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2			5
HP:0004324	HP:0004324	Increased body weight	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0004324	HP:0004324	Increased body weight	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0004324	HP:0004324	Increased body weight	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0004324	HP:0004324	Increased body weight	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0004324	HP:0004324	Increased body weight	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0004324	HP:0004324	Increased body weight	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0004324	HP:0004324	Increased body weight	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0004324	HP:0004324	Increased body weight	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0004324	HP:0004324	Increased body weight	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19			1
HP:0004324	HP:0004324	Increased body weight	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0004324	HP:0004324	Increased body weight	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0004324	HP:0004324	Increased body weight	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0004324	HP:0004324	Increased body weight	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0004324	HP:0004324	Increased body weight	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0004324	HP:0004324	Increased body weight	0	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0004324	HP:0004324	Increased body weight	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement			12
HP:0004324	HP:0004324	Increased body weight	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0004324	HP:0004324	Increased body weight	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0004324	HP:0004324	Increased body weight	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0004324	HP:0004324	Increased body weight	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0004324	HP:0004324	Increased body weight	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0004324	HP:0004324	Increased body weight	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0004324	HP:0004324	Increased body weight	0	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0004324	HP:0004324	Increased body weight	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0004324	Increased body weight	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0004324	HP:0004324	Increased body weight	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0004324	HP:0004324	Increased body weight	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0004324	HP:0004324	Increased body weight	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0004324	HP:0004324	Increased body weight	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0004324	HP:0004324	Increased body weight	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0004324	HP:0004324	Increased body weight	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0004324	HP:0004324	Increased body weight	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0004324	HP:0004324	Increased body weight	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0004324	HP:0004324	Increased body weight	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0004324	HP:0004324	Increased body weight	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0004324	HP:0004324	Increased body weight	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0004324	HP:0004324	Increased body weight	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0004324	HP:0004324	Increased body weight	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0004324	HP:0004324	Increased body weight	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0004324	HP:0004324	Increased body weight	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0004324	HP:0004324	Increased body weight	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0004324	HP:0004324	Increased body weight	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0004324	HP:0004324	Increased body weight	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0004324	HP:0004324	Increased body weight	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0004324	HP:0004324	Increased body weight	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction			47
HP:0004324	HP:0004324	Increased body weight	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0004324	HP:0004324	Increased body weight	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0004324	HP:0004324	Increased body weight	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0004324	HP:0004324	Increased body weight	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0004324	HP:0004324	Increased body weight	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0004324	HP:0004324	Increased body weight	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0004324	HP:0004324	Increased body weight	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0004324	HP:0004324	Increased body weight	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0004324	HP:0004324	Increased body weight	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0004324	HP:0004324	Increased body weight	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0004324	HP:0004324	Increased body weight	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0004324	HP:0004324	Increased body weight	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0004324	HP:0004324	Increased body weight	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0004324	HP:0004324	Increased body weight	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0004324	HP:0004324	Increased body weight	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0004324	HP:0004324	Increased body weight	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0004324	HP:0004324	Increased body weight	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0004324	HP:0004324	Increased body weight	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0004324	HP:0004324	Increased body weight	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0004324	HP:0004324	Increased body weight	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0004324	HP:0004324	Increased body weight	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0004324	HP:0004324	Increased body weight	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0004324	HP:0004324	Increased body weight	0	MC3R CL E G H	4159	6931	OMIM:602025	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9			2
HP:0004324	HP:0004324	Increased body weight	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0004324	HP:0004324	Increased body weight	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0004324	HP:0004324	Increased body weight	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0004324	HP:0004324	Increased body weight	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0004324	HP:0004324	Increased body weight	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0004324	HP:0004324	Increased body weight	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0004324	HP:0004324	Increased body weight	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0004324	HP:0004324	Increased body weight	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0004324	HP:0004324	Increased body weight	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0004324	HP:0004324	Increased body weight	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0004324	HP:0004324	Increased body weight	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0004324	HP:0004324	Increased body weight	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0004324	HP:0004324	Increased body weight	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		462
HP:0004324	HP:0004324	Increased body weight	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0004324	HP:0004324	Increased body weight	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0004324	HP:0004324	Increased body weight	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0004324	HP:0004324	Increased body weight	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0004324	HP:0004324	Increased body weight	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0004324	HP:0004324	Increased body weight	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0004324	Increased body weight	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0004324	HP:0004324	Increased body weight	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0004324	HP:0004324	Increased body weight	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0004324	HP:0004324	Increased body weight	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1			1
HP:0004324	HP:0004324	Increased body weight	0	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18			1
HP:0004324	HP:0004324	Increased body weight	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0004324	HP:0004324	Increased body weight	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0004324	HP:0004324	Increased body weight	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0004324	HP:0004324	Increased body weight	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0004324	HP:0004324	Increased body weight	0	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1			81
HP:0004324	HP:0004324	Increased body weight	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0004324	HP:0004324	Increased body weight	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0004324	HP:0004324	Increased body weight	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0004324	HP:0004324	Increased body weight	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0004324	HP:0004324	Increased body weight	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0004324	HP:0004324	Increased body weight	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0004324	HP:0004324	Increased body weight	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0004324	HP:0004324	Increased body weight	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0004324	HP:0004324	Increased body weight	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0004324	HP:0004324	Increased body weight	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0004324	HP:0004324	Increased body weight	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0004324	HP:0004324	Increased body weight	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0004324	HP:0004324	Increased body weight	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0004324	HP:0004324	Increased body weight	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0004324	HP:0004324	Increased body weight	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0004324	HP:0004324	Increased body weight	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0004324	HP:0004324	Increased body weight	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0004324	HP:0004324	Increased body weight	0	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY			4
HP:0004324	HP:0004324	Increased body weight	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0004324	HP:0004324	Increased body weight	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0004324	HP:0004324	Increased body weight	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0004324	HP:0004324	Increased body weight	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0004324	HP:0004324	Increased body weight	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0004324	HP:0004324	Increased body weight	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0004324	HP:0004324	Increased body weight	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0004324	HP:0004324	Increased body weight	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0004324	HP:0004324	Increased body weight	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0004324	HP:0004324	Increased body weight	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0004324	HP:0004324	Increased body weight	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0004324	HP:0004324	Increased body weight	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0004324	HP:0004324	Increased body weight	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0004324	HP:0004324	Increased body weight	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0004324	HP:0004324	Increased body weight	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1			2
HP:0004324	HP:0004324	Increased body weight	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0004324	HP:0004324	Increased body weight	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0004324	HP:0004324	Increased body weight	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0004324	HP:0004324	Increased body weight	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0004324	HP:0004324	Increased body weight	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0004324	HP:0004324	Increased body weight	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0004324	HP:0004324	Increased body weight	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0004324	HP:0004324	Increased body weight	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0004324	HP:0004324	Increased body weight	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency			65
HP:0004324	HP:0004324	Increased body weight	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0004324	HP:0004324	Increased body weight	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0004324	HP:0004324	Increased body weight	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0004324	HP:0004324	Increased body weight	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0004324	HP:0004324	Increased body weight	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0004324	HP:0004324	Increased body weight	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0004324	HP:0004324	Increased body weight	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0004324	HP:0004324	Increased body weight	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0004324	HP:0004324	Increased body weight	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0004324	HP:0004324	Increased body weight	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0004324	HP:0004324	Increased body weight	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0004324	HP:0004324	Increased body weight	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0004324	HP:0004324	Increased body weight	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0004324	HP:0004324	Increased body weight	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:0004324	HP:0004324	Increased body weight	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0004324	HP:0004324	Increased body weight	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0004324	HP:0004324	Increased body weight	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0004324	HP:0004324	Increased body weight	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0004324	HP:0004324	Increased body weight	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0004324	HP:0004324	Increased body weight	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0004324	HP:0004324	Increased body weight	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0004324	HP:0004324	Increased body weight	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0004324	HP:0004324	Increased body weight	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0004324	HP:0004324	Increased body weight	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0004324	HP:0004324	Increased body weight	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0004324	HP:0004324	Increased body weight	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0004324	HP:0004324	Increased body weight	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0004324	HP:0004324	Increased body weight	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0004324	HP:0004324	Increased body weight	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0004324	HP:0004324	Increased body weight	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0004324	HP:0004324	Increased body weight	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0004324	HP:0004324	Increased body weight	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0004324	HP:0004324	Increased body weight	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0004324	HP:0004324	Increased body weight	0	POMC CL E G H	5443	9201	OMIM:601665	OBESITY			27
HP:0004324	HP:0004324	Increased body weight	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0004324	HP:0004324	Increased body weight	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0004324	HP:0004324	Increased body weight	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0004324	HP:0004324	Increased body weight	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0004324	HP:0004324	Increased body weight	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0004324	HP:0004324	Increased body weight	0	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY			42
HP:0004324	HP:0004324	Increased body weight	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0004324	HP:0004324	Increased body weight	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0004324	HP:0004324	Increased body weight	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0004324	HP:0004324	Increased body weight	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0004324	HP:0004324	Increased body weight	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0004324	HP:0004324	Increased body weight	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0004324	HP:0004324	Increased body weight	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0004324	HP:0004324	Increased body weight	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0004324	HP:0004324	Increased body weight	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0004324	HP:0004324	Increased body weight	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0004324	HP:0004324	Increased body weight	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0004324	HP:0004324	Increased body weight	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0004324	HP:0004324	Increased body weight	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0004324	HP:0004324	Increased body weight	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0004324	HP:0004324	Increased body weight	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0004324	HP:0004324	Increased body weight	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0004324	HP:0004324	Increased body weight	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0004324	HP:0004324	Increased body weight	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0004324	HP:0004324	Increased body weight	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004324	HP:0004324	Increased body weight	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0004324	HP:0004324	Increased body weight	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0004324	HP:0004324	Increased body weight	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0004324	HP:0004324	Increased body weight	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0004324	HP:0004324	Increased body weight	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0004324	HP:0004324	Increased body weight	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0004324	HP:0004324	Increased body weight	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0004324	HP:0004324	Increased body weight	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0004324	HP:0004324	Increased body weight	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0004324	HP:0004324	Increased body weight	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0004324	Increased body weight	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0004324	Increased body weight	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0004324	HP:0004324	Increased body weight	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0004324	HP:0004324	Increased body weight	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0004324	HP:0004324	Increased body weight	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0004324	HP:0004324	Increased body weight	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0004324	HP:0004324	Increased body weight	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0004324	HP:0004324	Increased body weight	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0004324	HP:0004324	Increased body weight	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0004324	HP:0004324	Increased body weight	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0004324	HP:0004324	Increased body weight	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0004324	HP:0004324	Increased body weight	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0004324	HP:0004324	Increased body weight	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0004324	HP:0004324	Increased body weight	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0004324	HP:0004324	Increased body weight	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0004324	HP:0004324	Increased body weight	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0004324	HP:0004324	Increased body weight	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0004324	HP:0004324	Increased body weight	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0004324	HP:0004324	Increased body weight	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0004324	HP:0004324	Increased body weight	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0004324	HP:0004324	Increased body weight	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0004324	HP:0004324	Increased body weight	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0004324	HP:0004324	Increased body weight	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0004324	HP:0004324	Increased body weight	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0004324	HP:0004324	Increased body weight	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0004324	HP:0004324	Increased body weight	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers			65
HP:0004324	HP:0004324	Increased body weight	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0004324	HP:0004324	Increased body weight	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004324	HP:0004324	Increased body weight	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0004324	HP:0004324	Increased body weight	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0004324	HP:0004324	Increased body weight	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0004324	HP:0004324	Increased body weight	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0004324	HP:0004324	Increased body weight	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0004324	HP:0004324	Increased body weight	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004324	HP:0004324	Increased body weight	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0004324	HP:0004324	Increased body weight	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0004324	HP:0004324	Increased body weight	0	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY			2
HP:0004324	HP:0004324	Increased body weight	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0004324	HP:0004324	Increased body weight	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0004324	HP:0004324	Increased body weight	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0004324	HP:0004324	Increased body weight	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0004324	HP:0004324	Increased body weight	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0004324	HP:0004324	Increased body weight	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0004324	HP:0004324	Increased body weight	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0004324	HP:0004324	Increased body weight	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0004324	HP:0004324	Increased body weight	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0004324	HP:0004324	Increased body weight	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0004324	HP:0004324	Increased body weight	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0004324	HP:0004324	Increased body weight	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0004324	HP:0004324	Increased body weight	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0004324	HP:0004324	Increased body weight	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0004324	HP:0004324	Increased body weight	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0004324	HP:0004324	Increased body weight	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0004324	HP:0004324	Increased body weight	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0004324	HP:0004324	Increased body weight	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0004324	HP:0004324	Increased body weight	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0004324	HP:0004324	Increased body weight	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0004324	HP:0004324	Increased body weight	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0004324	HP:0004324	Increased body weight	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0004324	HP:0004324	Increased body weight	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0004324	HP:0004324	Increased body weight	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0004324	HP:0004324	Increased body weight	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0004324	HP:0004324	Increased body weight	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0004324	HP:0004324	Increased body weight	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0004324	HP:0004324	Increased body weight	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0004324	HP:0004324	Increased body weight	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0004324	HP:0004324	Increased body weight	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0004324	Increased body weight	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0004324	Increased body weight	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0004324	HP:0004324	Increased body weight	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0004324	HP:0004324	Increased body weight	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0004324	HP:0004324	Increased body weight	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0004324	HP:0004324	Increased body weight	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0004324	HP:0004324	Increased body weight	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0004324	HP:0004324	Increased body weight	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0004324	HP:0004324	Increased body weight	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0004324	HP:0004324	Increased body weight	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0004324	HP:0004324	Increased body weight	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0004324	HP:0004324	Increased body weight	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0004324	HP:0004324	Increased body weight	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0004324	HP:0004324	Increased body weight	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0004324	HP:0004324	Increased body weight	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0004324	HP:0004324	Increased body weight	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0004324	HP:0004324	Increased body weight	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0004324	HP:0004324	Increased body weight	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0004324	HP:0004324	Increased body weight	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0004324	HP:0004324	Increased body weight	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004324	HP:0004324	Increased body weight	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0004324	HP:0004324	Increased body weight	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0004324	HP:0004324	Increased body weight	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB			86
HP:0004324	HP:0004324	Increased body weight	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0004324	HP:0004324	Increased body weight	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0004324	HP:0004324	Increased body weight	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0004324	HP:0004324	Increased body weight	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0004324	HP:0004324	Increased body weight	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0004324	HP:0004324	Increased body weight	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0004324	HP:0004324	Increased body weight	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004324	HP:0004324	Increased body weight	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0004324	HP:0004324	Increased body weight	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0004324	HP:0004324	Increased body weight	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0004324	HP:0004324	Increased body weight	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0004324	HP:0004324	Increased body weight	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0004324	HP:0004324	Increased body weight	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0004324	HP:0004324	Increased body weight	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0004324	HP:0004324	Increased body weight	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0004324	HP:0004324	Increased body weight	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004324	HP:0004324	Increased body weight	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0004324	HP:0004324	Increased body weight	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0004324	HP:0004324	Increased body weight	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0004324	HP:0004324	Increased body weight	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0004324	HP:0004324	Increased body weight	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0004324	HP:0004324	Increased body weight	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0004324	HP:0004324	Increased body weight	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0004324	HP:0004324	Increased body weight	0	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0004324	HP:0004324	Increased body weight	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0004324	HP:0004324	Increased body weight	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0004324	HP:0004324	Increased body weight	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0004324	HP:0004324	Increased body weight	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0004324	HP:0004324	Increased body weight	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0004324	HP:0004324	Increased body weight	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0004324	HP:0004324	Increased body weight	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0004324	HP:0004324	Increased body weight	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0004324	HP:0004324	Increased body weight	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0004324	HP:0004324	Increased body weight	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0004324	HP:0004324	Increased body weight	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0004324	HP:0004324	Increased body weight	0	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11			108
HP:0004324	HP:0004324	Increased body weight	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0004324	HP:0004324	Increased body weight	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0004324	HP:0004324	Increased body weight	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0004324	HP:0004324	Increased body weight	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0004324	HP:0004324	Increased body weight	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0004324	HP:0004324	Increased body weight	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0004324	HP:0004324	Increased body weight	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0004324	HP:0004324	Increased body weight	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0004324	HP:0004324	Increased body weight	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0004324	HP:0004324	Increased body weight	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0004324	HP:0004324	Increased body weight	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0004324	HP:0004324	Increased body weight	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0004324	HP:0004324	Increased body weight	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0004324	HP:0004324	Increased body weight	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0004324	HP:0004324	Increased body weight	0	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY			6
HP:0004324	HP:0004324	Increased body weight	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0004324	HP:0004324	Increased body weight	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0004324	HP:0004324	Increased body weight	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0004324	HP:0004324	Increased body weight	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0004324	HP:0004324	Increased body weight	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0004324	HP:0004324	Increased body weight	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0004324	HP:0004324	Increased body weight	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0004324	HP:0004324	Increased body weight	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0004324	HP:0004324	Increased body weight	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0004324	HP:0004324	Increased body weight	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004324	HP:0004324	Increased body weight	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0004324	HP:0004324	Increased body weight	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0004324	HP:0004324	Increased body weight	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0004324	HP:0004324	Increased body weight	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0004324	HP:0004324	Increased body weight	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0004324	HP:0004324	Increased body weight	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0004324	HP:0004324	Increased body weight	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0004324	HP:0004324	Increased body weight	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0004324	HP:0004324	Increased body weight	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0004324	HP:0004324	Increased body weight	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		7
HP:0004324	HP:0004324	Increased body weight	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0004324	HP:0004324	Increased body weight	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0004324	HP:0004324	Increased body weight	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1			3
HP:0004324	HP:0004324	Increased body weight	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0004324	HP:0004324	Increased body weight	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0004324	HP:0004324	Increased body weight	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0004324	HP:0004324	Increased body weight	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0004324	HP:0004324	Increased body weight	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0004324	HP:0001513	Obesity	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		826
HP:0004324	HP:0001513	Obesity	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0004324	HP:0025502	Overweight	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040282 - Frequent		111
HP:0004324	HP:0001520	Large for gestational age	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0004324	HP:0001520	Large for gestational age	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0004324	HP:0001520	Large for gestational age	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0004324	HP:0001513	Obesity	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare		245
HP:0004324	HP:0025502	Overweight	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0004324	HP:0001520	Large for gestational age	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0004324	HP:0025502	Overweight	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0004324	HP:0001513	Obesity	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0004324	HP:0001513	Obesity	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0004324	HP:0025502	Overweight	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0004324	HP:0001513	Obesity	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0004324	HP:0001513	Obesity	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0004324	HP:0001513	Obesity	1	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.		5
HP:0004324	HP:0001513	Obesity	1	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.		1
HP:0004324	HP:0001513	Obesity	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0004324	HP:0001513	Obesity	1	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.		1
HP:0004324	HP:0001513	Obesity	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		175
HP:0004324	HP:0001513	Obesity	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0004324	HP:0001513	Obesity	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0004324	HP:0001513	Obesity	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0004324	HP:0001513	Obesity	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0004324	HP:0001520	Large for gestational age	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0004324	HP:0001513	Obesity	1	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0004324	HP:0001520	Large for gestational age	1	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0004324	HP:0001513	Obesity	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional		104
HP:0004324	HP:0001513	Obesity	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0004324	HP:0001513	Obesity	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0004324	HP:0001520	Large for gestational age	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040283 - Occasional		176
HP:0004324	HP:0001513	Obesity	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0004324	HP:0025502	Overweight	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		49
HP:0004324	HP:0025502	Overweight	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		48
HP:0004324	HP:0025502	Overweight	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		41
HP:0004324	HP:0025502	Overweight	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		18
HP:0004324	HP:0001513	Obesity	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0004324	HP:0025502	Overweight	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0004324	HP:0001513	Obesity	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare		2
HP:0004324	HP:0001520	Large for gestational age	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0004324	HP:0001513	Obesity	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		6
HP:0004324	HP:0001513	Obesity	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0004324	HP:0001513	Obesity	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0004324	HP:0001513	Obesity	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		29
HP:0004324	HP:0001513	Obesity	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0004324	HP:0001513	Obesity	1	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0004324	HP:0001513	Obesity	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		29
HP:0004324	HP:0001513	Obesity	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0004324	HP:0001513	Obesity	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0004324	HP:0001513	Obesity	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0004324	HP:0025502	Overweight	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0004324	HP:0001513	Obesity	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0004324	HP:0001513	Obesity	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0004324	HP:0001513	Obesity	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0004324	HP:0001513	Obesity	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	HP:0040283 - Occasional		169
HP:0004324	HP:0001513	Obesity	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0004324	HP:0001513	Obesity	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0004324	HP:0001513	Obesity	1	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18	.		1
HP:0004324	HP:0001513	Obesity	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		114
HP:0004324	HP:0001513	Obesity	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0004324	HP:0001513	Obesity	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		114
HP:0004324	HP:0001513	Obesity	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		118
HP:0004324	HP:0001513	Obesity	1	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10	.		118
HP:0004324	HP:0001513	Obesity	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		71
HP:0004324	HP:0001513	Obesity	1	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12	.		71
HP:0004324	HP:0001513	Obesity	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		97
HP:0004324	HP:0001513	Obesity	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0004324	HP:0001513	Obesity	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		97
HP:0004324	HP:0001513	Obesity	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		87
HP:0004324	HP:0001513	Obesity	1	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4	.		87
HP:0004324	HP:0001513	Obesity	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		25
HP:0004324	HP:0001513	Obesity	1	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0004324	HP:0001513	Obesity	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		66
HP:0004324	HP:0001513	Obesity	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0004324	HP:0001513	Obesity	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		119
HP:0004324	HP:0001513	Obesity	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0004324	HP:0001513	Obesity	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		5
HP:0004324	HP:0001513	Obesity	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		182
HP:0004324	HP:0001520	Large for gestational age	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0004324	HP:0001513	Obesity	1	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.		75
HP:0004324	HP:0025502	Overweight	1	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.		75
HP:0004324	HP:0001520	Large for gestational age	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0004324	HP:0001513	Obesity	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare		75
HP:0004324	HP:0025502	Overweight	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0004324	HP:0001513	Obesity	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0004324	HP:0001513	Obesity	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0004324	HP:0001513	Obesity	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0004324	HP:0001513	Obesity	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0004324	HP:0001520	Large for gestational age	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0004324	HP:0001513	Obesity	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0004324	HP:0001513	Obesity	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		23
HP:0004324	HP:0001513	Obesity	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		247
HP:0004324	HP:0001513	Obesity	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0004324	HP:0001513	Obesity	1	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.		1
HP:0004324	HP:0001513	Obesity	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0004324	HP:0001513	Obesity	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0004324	HP:0001513	Obesity	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0004324	HP:0001513	Obesity	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		147
HP:0004324	HP:0025502	Overweight	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0004324	HP:0001520	Large for gestational age	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0004324	HP:0001513	Obesity	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare		25
HP:0004324	HP:0001513	Obesity	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0004324	HP:0001513	Obesity	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0004324	HP:0001513	Obesity	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0004324	HP:0001513	Obesity	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0004324	HP:0001513	Obesity	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		342
HP:0004324	HP:0001513	Obesity	1	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.		342
HP:0004324	HP:0001513	Obesity	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		71
HP:0004324	HP:0001513	Obesity	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0004324	HP:0001513	Obesity	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0004324	HP:0025502	Overweight	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21	.
HP:0004324	HP:0001513	Obesity	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0004324	HP:0025502	Overweight	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0004324	HP:0001513	Obesity	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		60
HP:0004324	HP:0001513	Obesity	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		44
HP:0004324	HP:0001513	Obesity	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		164
HP:0004324	HP:0001513	Obesity	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0004324	HP:0001513	Obesity	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0004324	HP:0001513	Obesity	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional		79
HP:0004324	HP:0001513	Obesity	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0004324	HP:0001513	Obesity	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0004324	HP:0001513	Obesity	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0004324	HP:0001513	Obesity	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		156
HP:0004324	HP:0001513	Obesity	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0004324	HP:0001513	Obesity	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0004324	HP:0001513	Obesity	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0004324	HP:0001513	Obesity	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		158
HP:0004324	HP:0001513	Obesity	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0004324	HP:0001513	Obesity	1	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0004324	HP:0025502	Overweight	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0004324	HP:0001513	Obesity	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0004324	HP:0001513	Obesity	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0004324	HP:0001513	Obesity	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0004324	HP:0001513	Obesity	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent		11
HP:0004324	HP:0001513	Obesity	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0004324	HP:0001513	Obesity	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0004324	HP:0001513	Obesity	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004324	HP:0001513	Obesity	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0004324	HP:0001513	Obesity	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0004324	HP:0001513	Obesity	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0004324	HP:0001520	Large for gestational age	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0004324	HP:0001520	Large for gestational age	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0004324	HP:0001520	Large for gestational age	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0004324	HP:0001513	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:0004324	HP:0001513	Obesity	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0004324	HP:0001513	Obesity	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0004324	HP:0001513	Obesity	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001520	Large for gestational age	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0004324	HP:0001513	Obesity	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040282 - Frequent		44
HP:0004324	HP:0001513	Obesity	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0004324	HP:0001513	Obesity	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0004324	HP:0001513	Obesity	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3			7
HP:0004324	HP:0001520	Large for gestational age	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.		55
HP:0004324	HP:0001513	Obesity	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0004324	HP:0001513	Obesity	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent		223
HP:0004324	HP:0001520	Large for gestational age	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0004324	HP:0001513	Obesity	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0004324	HP:0001513	Obesity	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0004324	HP:0001513	Obesity	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0004324	HP:0001513	Obesity	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0004324	HP:0001513	Obesity	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0004324	HP:0001513	Obesity	1	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.		151
HP:0004324	HP:0001513	Obesity	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0004324	HP:0001513	Obesity	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0004324	HP:0001513	Obesity	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0004324	HP:0001513	Obesity	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	HP:0040284 - Very rare		3
HP:0004324	HP:0001513	Obesity	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		209
HP:0004324	HP:0001513	Obesity	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		56
HP:0004324	HP:0001513	Obesity	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0004324	HP:0001513	Obesity	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0004324	HP:0001513	Obesity	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0004324	HP:0001513	Obesity	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0004324	HP:0001513	Obesity	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0004324	HP:0001513	Obesity	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0004324	HP:0001513	Obesity	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional		145
HP:0004324	HP:0001513	Obesity	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0004324	HP:0001520	Large for gestational age	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0004324	HP:0001520	Large for gestational age	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0004324	HP:0001513	Obesity	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0004324	HP:0001513	Obesity	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0004324	HP:0001513	Obesity	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0004324	HP:0025502	Overweight	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		26
HP:0004324	HP:0001513	Obesity	1	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14			70
HP:0004324	HP:0001513	Obesity	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0004324	HP:0001513	Obesity	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0004324	HP:0001513	Obesity	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0004324	HP:0001513	Obesity	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0004324	HP:0001520	Large for gestational age	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0004324	HP:0025502	Overweight	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0004324	HP:0001513	Obesity	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare		237
HP:0004324	HP:0001513	Obesity	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0004324	HP:0001513	Obesity	1	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.		4
HP:0004324	HP:0001513	Obesity	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0004324	HP:0001513	Obesity	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0004324	HP:0001520	Large for gestational age	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0004324	HP:0001513	Obesity	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		101
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0004324	HP:0001513	Obesity	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0004324	HP:0001513	Obesity	1	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		1
HP:0004324	HP:0001513	Obesity	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0004324	HP:0001513	Obesity	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		36
HP:0004324	HP:0001513	Obesity	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.		8
HP:0004324	HP:0001513	Obesity	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0004324	HP:0001513	Obesity	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional		10
HP:0004324	HP:0001513	Obesity	1	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0004324	HP:0001513	Obesity	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0004324	HP:0001513	Obesity	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0004324	HP:0001513	Obesity	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0004324	HP:0001513	Obesity	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0004324	HP:0001513	Obesity	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0004324	HP:0001513	Obesity	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0004324	HP:0001520	Large for gestational age	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0004324	HP:0001520	Large for gestational age	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0004324	HP:0001513	Obesity	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0004324	HP:0025502	Overweight	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		21
HP:0004324	HP:0001513	Obesity	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0004324	HP:0001513	Obesity	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0004324	HP:0001513	Obesity	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		86
HP:0004324	HP:0001513	Obesity	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0004324	HP:0001513	Obesity	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		2
HP:0004324	HP:0001520	Large for gestational age	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0004324	HP:0001520	Large for gestational age	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0004324	HP:0001513	Obesity	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare		161
HP:0004324	HP:0025502	Overweight	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0004324	HP:0001520	Large for gestational age	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	HP:0003623 - Neonatal onset	138
HP:0004324	HP:0001520	Large for gestational age	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0004324	HP:0001513	Obesity	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare		138
HP:0004324	HP:0001520	Large for gestational age	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0004324	HP:0025502	Overweight	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0004324	HP:0001513	Obesity	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0004324	HP:0001513	Obesity	1	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional		5
HP:0004324	HP:0001513	Obesity	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0004324	HP:0001513	Obesity	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0004324	HP:0001513	Obesity	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		148
HP:0004324	HP:0001513	Obesity	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		48
HP:0004324	HP:0001513	Obesity	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0004324	HP:0001513	Obesity	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0004324	HP:0001513	Obesity	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0004324	HP:0001513	Obesity	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0004324	HP:0001513	Obesity	1	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19	.		1
HP:0004324	HP:0001513	Obesity	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		3
HP:0004324	HP:0001520	Large for gestational age	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0004324	HP:0001513	Obesity	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0004324	HP:0001513	Obesity	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0004324	HP:0001513	Obesity	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0004324	HP:0001513	Obesity	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0004324	HP:0001513	Obesity	1	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0004324	HP:0025502	Overweight	1	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement	.		12
HP:0004324	HP:0001513	Obesity	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0004324	HP:0001513	Obesity	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		52
HP:0004324	HP:0001513	Obesity	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0004324	HP:0001513	Obesity	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		120
HP:0004324	HP:0001513	Obesity	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0004324	HP:0001513	Obesity	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0004324	HP:0001513	Obesity	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare		62
HP:0004324	HP:0001520	Large for gestational age	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0004324	HP:0025502	Overweight	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0004324	HP:0001513	Obesity	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0001513	Obesity	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent		119
HP:0004324	HP:0001513	Obesity	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0004324	HP:0001513	Obesity	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0004324	HP:0001513	Obesity	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0004324	HP:0001520	Large for gestational age	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0004324	HP:0001520	Large for gestational age	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0004324	HP:0001520	Large for gestational age	1	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.		127
HP:0004324	HP:0025502	Overweight	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0004324	HP:0001520	Large for gestational age	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0004324	HP:0001513	Obesity	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare		127
HP:0004324	HP:0001513	Obesity	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		10
HP:0004324	HP:0001513	Obesity	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0004324	HP:0001513	Obesity	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0004324	HP:0001513	Obesity	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0004324	HP:0001513	Obesity	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0004324	HP:0001513	Obesity	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare		78
HP:0004324	HP:0001520	Large for gestational age	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0004324	HP:0025502	Overweight	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0004324	HP:0001513	Obesity	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		42
HP:0004324	HP:0001520	Large for gestational age	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0004324	HP:0001513	Obesity	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0004324	HP:0001513	Obesity	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0004324	HP:0001513	Obesity	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0004324	HP:0001513	Obesity	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0004324	HP:0001513	Obesity	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	HP:0040280 - Obligate	HP:0011463 - Childhood onset	47
HP:0004324	HP:0001513	Obesity	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040280 - Obligate		47
HP:0004324	HP:0001513	Obesity	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040280 - Obligate	HP:0003593 - Infantile onset	46
HP:0004324	HP:0001513	Obesity	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040280 - Obligate		46
HP:0004324	HP:0025502	Overweight	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		51
HP:0004324	HP:0025502	Overweight	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		43
HP:0004324	HP:0001513	Obesity	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0004324	HP:0001513	Obesity	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0004324	HP:0001513	Obesity	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0004324	HP:0001513	Obesity	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		62
HP:0004324	HP:0001513	Obesity	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		4
HP:0004324	HP:0001513	Obesity	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0004324	HP:0001513	Obesity	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0004324	HP:0001513	Obesity	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0004324	HP:0001513	Obesity	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0004324	HP:0001513	Obesity	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		53
HP:0004324	HP:0001513	Obesity	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0004324	HP:0001513	Obesity	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0004324	HP:0001513	Obesity	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	HP:0040284 - Very rare
HP:0004324	HP:0001513	Obesity	1	MC3R CL E G H	4159	6931	OMIM:602025	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9			2
HP:0004324	HP:0001513	Obesity	1	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0004324	HP:0001513	Obesity	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040280 - Obligate		54
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0004324	HP:0001513	Obesity	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional		950
HP:0004324	HP:0001520	Large for gestational age	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0004324	HP:0001520	Large for gestational age	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0004324	HP:0001513	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:0004324	HP:0001513	Obesity	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0004324	HP:0001513	Obesity	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		13
HP:0004324	HP:0001513	Obesity	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.		13
HP:0004324	HP:0001513	Obesity	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		75
HP:0004324	HP:0001513	Obesity	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0004324	HP:0001513	Obesity	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		69
HP:0004324	HP:0001513	Obesity	1	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.		69
HP:0004324	HP:0001513	Obesity	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0004324	HP:0001513	Obesity	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0001513	Obesity	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		127
HP:0004324	HP:0001513	Obesity	1	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0004324	HP:0001513	Obesity	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0004324	HP:0001513	Obesity	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7	.		1
HP:0004324	HP:0001513	Obesity	1	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0004324	HP:0001513	Obesity	1	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18			1
HP:0004324	HP:0001513	Obesity	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0004324	HP:0001520	Large for gestational age	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0004324	HP:0001520	Large for gestational age	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent		68
HP:0004324	HP:0001520	Large for gestational age	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0004324	HP:0001513	Obesity	1	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1			81
HP:0004324	HP:0001520	Large for gestational age	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0004324	HP:0001513	Obesity	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	HP:0040281 - Very frequent		13
HP:0004324	HP:0001513	Obesity	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0004324	HP:0001513	Obesity	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001520	Large for gestational age	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0004324	HP:0001513	Obesity	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0004324	HP:0025502	Overweight	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0004324	HP:0001520	Large for gestational age	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0004324	HP:0001513	Obesity	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare		32
HP:0004324	HP:0001513	Obesity	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0004324	HP:0001513	Obesity	1	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0004324	HP:0001513	Obesity	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0004324	HP:0001513	Obesity	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0004324	HP:0001513	Obesity	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0004324	HP:0001513	Obesity	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0004324	HP:0001513	Obesity	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		85
HP:0004324	HP:0001513	Obesity	1	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.		4
HP:0004324	HP:0001513	Obesity	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		58
HP:0004324	HP:0001513	Obesity	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0004324	HP:0001513	Obesity	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0004324	HP:0001513	Obesity	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.		8
HP:0004324	HP:0001513	Obesity	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001520	Large for gestational age	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0004324	HP:0001520	Large for gestational age	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		201
HP:0004324	HP:0001513	Obesity	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0004324	HP:0001513	Obesity	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0004324	HP:0001513	Obesity	1	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		2
HP:0004324	HP:0001513	Obesity	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0004324	HP:0001520	Large for gestational age	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0004324	HP:0001513	Obesity	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare		55
HP:0004324	HP:0025502	Overweight	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0004324	HP:0001513	Obesity	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		194
HP:0004324	HP:0001513	Obesity	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0004324	HP:0001513	Obesity	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0004324	HP:0001513	Obesity	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0004324	HP:0001513	Obesity	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040280 - Obligate		65
HP:0004324	HP:0001513	Obesity	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.		65
HP:0004324	HP:0001513	Obesity	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0004324	HP:0001513	Obesity	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0004324	HP:0001513	Obesity	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0004324	HP:0001513	Obesity	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0004324	HP:0001513	Obesity	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		113
HP:0004324	HP:0001513	Obesity	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0004324	HP:0001513	Obesity	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		116
HP:0004324	HP:0001513	Obesity	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		126
HP:0004324	HP:0001513	Obesity	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		18
HP:0004324	HP:0001513	Obesity	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0004324	HP:0001513	Obesity	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0004324	HP:0001513	Obesity	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0004324	HP:0025502	Overweight	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0004324	HP:0001513	Obesity	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare		30
HP:0004324	HP:0001520	Large for gestational age	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0004324	HP:0001513	Obesity	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0004324	HP:0001513	Obesity	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0004324	HP:0001520	Large for gestational age	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0004324	HP:0001513	Obesity	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0004324	HP:0001520	Large for gestational age	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0004324	HP:0001520	Large for gestational age	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0004324	HP:0001513	Obesity	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0004324	HP:0001520	Large for gestational age	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0004324	HP:0001513	Obesity	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0004324	HP:0001513	Obesity	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0004324	HP:0001513	Obesity	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040282 - Frequent		244
HP:0004324	HP:0001513	Obesity	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040281 - Very frequent		103
HP:0004324	HP:0001513	Obesity	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0004324	HP:0001513	Obesity	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0004324	HP:0001513	Obesity	1	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.		27
HP:0004324	HP:0001513	Obesity	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040280 - Obligate		27
HP:0004324	HP:0001513	Obesity	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0004324	HP:0001513	Obesity	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		180
HP:0004324	HP:0025502	Overweight	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		36
HP:0004324	HP:0001513	Obesity	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0004324	HP:0001513	Obesity	1	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.		42
HP:0004324	HP:0001513	Obesity	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		39
HP:0004324	HP:0001513	Obesity	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0004324	HP:0001513	Obesity	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0004324	HP:0001513	Obesity	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		134
HP:0004324	HP:0001513	Obesity	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0004324	HP:0001513	Obesity	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0004324	HP:0001513	Obesity	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0004324	HP:0001513	Obesity	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0004324	HP:0001513	Obesity	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0004324	HP:0001513	Obesity	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent		6
HP:0004324	HP:0001513	Obesity	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	HP:0040283 - Occasional		9
HP:0004324	HP:0001513	Obesity	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0004324	HP:0001513	Obesity	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0004324	HP:0001513	Obesity	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0004324	HP:0001513	Obesity	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		110
HP:0004324	HP:0025502	Overweight	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		54
HP:0004324	HP:0001513	Obesity	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004324	HP:0001513	Obesity	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0004324	HP:0001513	Obesity	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		70
HP:0004324	HP:0001513	Obesity	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0004324	HP:0001513	Obesity	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		51
HP:0004324	HP:0001513	Obesity	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		94
HP:0004324	HP:0001513	Obesity	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		159
HP:0004324	HP:0001513	Obesity	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0004324	HP:0001520	Large for gestational age	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0004324	HP:0001513	Obesity	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.		948
HP:0004324	HP:0001513	Obesity	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0001513	Obesity	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0001513	Obesity	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		31
HP:0004324	HP:0001513	Obesity	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0004324	HP:0001513	Obesity	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0004324	HP:0001520	Large for gestational age	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0004324	HP:0001513	Obesity	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0004324	HP:0001513	Obesity	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0004324	HP:0001513	Obesity	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		108
HP:0004324	HP:0001513	Obesity	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0004324	HP:0001513	Obesity	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0004324	HP:0001513	Obesity	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0004324	HP:0001513	Obesity	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0004324	HP:0001513	Obesity	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		107
HP:0004324	HP:0001520	Large for gestational age	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0004324	HP:0001513	Obesity	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0004324	HP:0001520	Large for gestational age	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0004324	HP:0001513	Obesity	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0004324	HP:0001513	Obesity	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		38
HP:0004324	HP:0001513	Obesity	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		111
HP:0004324	HP:0001513	Obesity	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		284
HP:0004324	HP:0001513	Obesity	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0004324	HP:0001513	Obesity	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0004324	HP:0001513	Obesity	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		129
HP:0004324	HP:0001513	Obesity	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		200
HP:0004324	HP:0001513	Obesity	1	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional		65
HP:0004324	HP:0001513	Obesity	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001520	Large for gestational age	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent
HP:0004324	HP:0001520	Large for gestational age	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004324	HP:0001513	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:0004324	HP:0001513	Obesity	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0004324	HP:0001520	Large for gestational age	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0004324	HP:0001513	Obesity	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		32
HP:0004324	HP:0025502	Overweight	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004324	HP:0001513	Obesity	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004324	HP:0001513	Obesity	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0004324	HP:0001513	Obesity	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.		2
HP:0004324	HP:0001513	Obesity	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		61
HP:0004324	HP:0001513	Obesity	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0004324	HP:0001513	Obesity	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0004324	HP:0001513	Obesity	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0004324	HP:0001513	Obesity	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0004324	HP:0001513	Obesity	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0004324	HP:0001513	Obesity	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0004324	HP:0001513	Obesity	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0004324	HP:0001513	Obesity	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.		2
HP:0004324	HP:0001513	Obesity	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0004324	HP:0001520	Large for gestational age	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0004324	HP:0001513	Obesity	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040282 - Frequent		66
HP:0004324	HP:0001513	Obesity	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0004324	HP:0001513	Obesity	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent		40
HP:0004324	HP:0001513	Obesity	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		40
HP:0004324	HP:0001513	Obesity	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0004324	HP:0001513	Obesity	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0004324	HP:0001513	Obesity	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0004324	HP:0001513	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:0004324	HP:0001513	Obesity	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	HP:0040283 - Occasional		68
HP:0004324	HP:0001513	Obesity	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0004324	HP:0001513	Obesity	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0004324	HP:0001513	Obesity	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0004324	HP:0001513	Obesity	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0004324	HP:0001513	Obesity	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0004324	HP:0001513	Obesity	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0004324	HP:0001513	Obesity	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0004324	HP:0001513	Obesity	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0004324	HP:0001513	Obesity	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0001513	Obesity	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0004324	HP:0001513	Obesity	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		83
HP:0004324	HP:0001513	Obesity	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0004324	HP:0001513	Obesity	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0004324	HP:0001513	Obesity	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	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:0004324	HP:0001513	Obesity	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040281 - Very frequent		37
HP:0004324	HP:0001520	Large for gestational age	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0004324	HP:0001513	Obesity	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0004324	HP:0001513	Obesity	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0004324	HP:0001513	Obesity	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0004324	HP:0001513	Obesity	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0004324	HP:0001513	Obesity	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0004324	HP:0001513	Obesity	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0004324	HP:0001513	Obesity	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0004324	HP:0025502	Overweight	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0004324	HP:0001513	Obesity	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0004324	HP:0001513	Obesity	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0004324	HP:0001513	Obesity	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004324	HP:0025502	Overweight	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004324	HP:0001513	Obesity	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0004324	HP:0001513	Obesity	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0004324	HP:0001513	Obesity	1	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		86
HP:0004324	HP:0001513	Obesity	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001520	Large for gestational age	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0004324	HP:0001513	Obesity	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0004324	HP:0001513	Obesity	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		1129
HP:0004324	HP:0001513	Obesity	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		508
HP:0004324	HP:0001513	Obesity	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0004324	HP:0001513	Obesity	1	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:0004324	HP:0025502	Overweight	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004324	HP:0001513	Obesity	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0004324	HP:0001513	Obesity	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0004324	HP:0001513	Obesity	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent		100
HP:0004324	HP:0001513	Obesity	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0004324	HP:0001513	Obesity	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	HP:0040284 - Very rare		1
HP:0004324	HP:0001513	Obesity	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0004324	HP:0001513	Obesity	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004324	HP:0001513	Obesity	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0004324	HP:0025502	Overweight	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent		5
HP:0004324	HP:0001520	Large for gestational age	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0004324	HP:0025502	Overweight	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0004324	HP:0001513	Obesity	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	Obesity	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		171
HP:0004324	HP:0001513	Obesity	1	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14	.		166
HP:0004324	HP:0001513	Obesity	1	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0004324	HP:0001513	Obesity	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		61
HP:0004324	HP:0001513	Obesity	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0004324	HP:0001513	Obesity	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional		6
HP:0004324	HP:0001513	Obesity	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0004324	HP:0001513	Obesity	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0004324	HP:0001513	Obesity	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0004324	HP:0025502	Overweight	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0004324	HP:0001513	Obesity	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		108
HP:0004324	HP:0001513	Obesity	1	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11	.		108
HP:0004324	HP:0001513	Obesity	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	HP:0040284 - Very rare		2
HP:0004324	HP:0025502	Overweight	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional		4
HP:0004324	HP:0001513	Obesity	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		41
HP:0004324	HP:0001513	Obesity	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.		41
HP:0004324	HP:0001513	Obesity	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		41
HP:0004324	HP:0001513	Obesity	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	HP:0040283 - Occasional		1
HP:0004324	HP:0001513	Obesity	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0004324	HP:0001513	Obesity	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		66
HP:0004324	HP:0001513	Obesity	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0004324	HP:0001513	Obesity	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0004324	HP:0001513	Obesity	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0004324	HP:0001513	Obesity	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0004324	HP:0001513	Obesity	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0001520	Large for gestational age	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent		15
HP:0004324	HP:0001513	Obesity	1	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.		6
HP:0004324	HP:0001513	Obesity	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004324	HP:0025502	Overweight	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0004324	HP:0001513	Obesity	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		777
HP:0004324	HP:0001513	Obesity	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0004324	HP:0025502	Overweight	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0004324	HP:0001513	Obesity	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0004324	HP:0001513	Obesity	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0004324	HP:0001513	Obesity	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0004324	HP:0001513	Obesity	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0004324	HP:0001513	Obesity	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004324	HP:0001513	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:0004324	HP:0001513	Obesity	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		60
HP:0004324	HP:0001513	Obesity	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0004324	HP:0001513	Obesity	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040282 - Frequent		4
HP:0004324	HP:0001513	Obesity	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		177
HP:0004324	HP:0001513	Obesity	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0004324	HP:0001513	Obesity	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0004324	HP:0001513	Obesity	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0004324	HP:0001513	Obesity	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0004324	HP:0001513	Obesity	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0004324	HP:0025502	Overweight	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0004324	HP:0001513	Obesity	1	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		3
HP:0004324	HP:0001513	Obesity	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0004324	HP:0001513	Obesity	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		27
HP:0004324	HP:0001513	Obesity	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0004324	HP:0001513	Obesity	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0004324	HP:0025501	Class III obesity	2	CL E G H
HP:0004324	HP:0025500	Class II obesity	2	CL E G H
HP:0004324	HP:0025499	Class I obesity	2	CL E G H
HP:0004324	HP:0001956	Truncal obesity	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0004324	HP:0012743	Abdominal obesity	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0004324	HP:0001956	Truncal obesity	2	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0004324	HP:0001956	Truncal obesity	2	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0004324	HP:0001956	Truncal obesity	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0004324	HP:0001956	Truncal obesity	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0004324	HP:0012743	Abdominal obesity	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0004324	HP:0001956	Truncal obesity	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0004324	HP:0012743	Abdominal obesity	2	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	HP:0040283 - Occasional		7
HP:0004324	HP:0012743	Abdominal obesity	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0004324	HP:0001956	Truncal obesity	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		169
HP:0004324	HP:0012743	Abdominal obesity	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0004324	HP:0001956	Truncal obesity	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0004324	HP:0012743	Abdominal obesity	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0004324	HP:0001956	Truncal obesity	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0004324	HP:0012743	Abdominal obesity	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0004324	HP:0001956	Truncal obesity	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0004324	HP:0001956	Truncal obesity	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		276
HP:0004324	HP:0012743	Abdominal obesity	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0004324	HP:0001956	Truncal obesity	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0004324	HP:0012743	Abdominal obesity	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0004324	HP:0001956	Truncal obesity	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0004324	HP:0001956	Truncal obesity	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		636
HP:0004324	HP:0012743	Abdominal obesity	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0004324	HP:0001956	Truncal obesity	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0004324	HP:0012743	Abdominal obesity	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0004324	HP:0001956	Truncal obesity	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0004324	HP:0012743	Abdominal obesity	2	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.		7
HP:0004324	HP:0001956	Truncal obesity	2	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.		7
HP:0004324	HP:0001956	Truncal obesity	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0004324	HP:0001956	Truncal obesity	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent		30
HP:0004324	HP:0001956	Truncal obesity	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent		98
HP:0004324	HP:0001956	Truncal obesity	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0004324	HP:0001956	Truncal obesity	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0004324	HP:0001956	Truncal obesity	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0004324	HP:0012743	Abdominal obesity	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0004324	HP:0001956	Truncal obesity	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0004324	HP:0001956	Truncal obesity	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0004324	HP:0001956	Truncal obesity	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0004324	HP:0012743	Abdominal obesity	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.		38
HP:0004324	HP:0001956	Truncal obesity	2	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:0004324	HP:0001956	Truncal obesity	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0004324	HP:0001956	Truncal obesity	2	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040282 - Frequent		53
HP:0004324	HP:0001956	Truncal obesity	2	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0004324	HP:0001956	Truncal obesity	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent		111
HP:0004324	HP:0012743	Abdominal obesity	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0004324	HP:0001956	Truncal obesity	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0004324	HP:0012743	Abdominal obesity	2	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.		7
HP:0004324	HP:0012743	Abdominal obesity	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0004324	HP:0012743	Abdominal obesity	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.		63
HP:0004324	HP:0001956	Truncal obesity	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent		93
HP:0004324	HP:0001956	Truncal obesity	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0004324	HP:0001956	Truncal obesity	2	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0004324	HP:0001956	Truncal obesity	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0004324	HP:0012743	Abdominal obesity	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.		5
HP:0004324	HP:0012743	Abdominal obesity	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0004324	HP:0012743	Abdominal obesity	2	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1	.		81
HP:0004324	HP:0001956	Truncal obesity	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0004324	HP:0012743	Abdominal obesity	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0004324	HP:0012743	Abdominal obesity	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.		1
HP:0004324	HP:0001956	Truncal obesity	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		79
HP:0004324	HP:0012743	Abdominal obesity	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0004324	HP:0001956	Truncal obesity	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0004324	HP:0001956	Truncal obesity	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0004324	HP:0001956	Truncal obesity	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0004324	HP:0012743	Abdominal obesity	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0004324	HP:0001956	Truncal obesity	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0004324	HP:0012743	Abdominal obesity	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0004324	HP:0012743	Abdominal obesity	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0004324	HP:0001956	Truncal obesity	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0004324	HP:0001956	Truncal obesity	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0004324	HP:0001956	Truncal obesity	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0004324	HP:0012743	Abdominal obesity	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0004324	HP:0012743	Abdominal obesity	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0004324	HP:0001956	Truncal obesity	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0004324	HP:0012743	Abdominal obesity	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0004324	HP:0001956	Truncal obesity	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		4
HP:0004324	HP:0012743	Abdominal obesity	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0004324	HP:0012743	Abdominal obesity	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0004324	HP:0001956	Truncal obesity	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0004324	HP:0001956	Truncal obesity	2	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0004324	HP:0012743	Abdominal obesity	2	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0004324	HP:0001956	Truncal obesity	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0004324	HP:0012743	Abdominal obesity	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0004324	HP:0001956	Truncal obesity	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0004324	HP:0001956	Truncal obesity	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0004324	HP:0001956	Truncal obesity	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0004324	HP:0001956	Truncal obesity	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0004324	HP:0012743	Abdominal obesity	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0004324	HP:0012743	Abdominal obesity	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0004324	HP:0001956	Truncal obesity	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0004324	HP:0001956	Truncal obesity	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		911
HP:0004324	HP:0012743	Abdominal obesity	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0004324	HP:0001956	Truncal obesity	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional		158
HP:0004324	HP:0012743	Abdominal obesity	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0004324	HP:0001956	Truncal obesity	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		1
HP:0004324	HP:0001956	Truncal obesity	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		7
HP:0004324	HP:0012743	Abdominal obesity	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0004324	HP:0012743	Abdominal obesity	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0004324	HP:0001956	Truncal obesity	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0004324	HP:0001956	Truncal obesity	2	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:0004324	HP:0001956	Truncal obesity	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	HP:0040283 - Occasional		9
HP:0004324	HP:0001956	Truncal obesity	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0004324	HP:0001956	Truncal obesity	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional		14
HP:0004324	HP:0001956	Truncal obesity	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0004324	HP:0012743	Abdominal obesity	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0004324	HP:0008915	Childhood-onset truncal obesity	3	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0004324	HP:0008915	Childhood-onset truncal obesity	3	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040282 - Frequent		54
HP:0004324	HP:0008915	Childhood-onset truncal obesity	3	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent		65
HP:0004324	HP:0008915	Childhood-onset truncal obesity	3	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent		27
HP:0004324	HP:0008915	Childhood-onset truncal obesity	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546

Genes (475) :ABCA4 ABCB4 ABCC8 ABCC9 ACADVL ADCY3 ADGRL1 ADNP ADRB2 ADRB3 AFF4 AGBL5 AGRP AHI1 AHR AIP AKT1 AKT2 ALB ALMS1 ANK3 ANOS1 AP4B1 AP4E1 AP4M1 AP4S1 APOE APPL1 ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARMC5 ARNT2 ARVCF ASH1L ATP10A ATP6AP2 ATP7B ATRX BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BDNF BEST1 BIN1 BLK BLM BPTF BRAF BRD4 BUD23 CA4 CACNA1S CANT1 CARTPT CASZ1 CCDC141 CCDC28B CD46 CDH23 CDHR1 CDKN2A CEL CELA2A CEP164 CEP19 CEP290 CERKL CFAP418 CFH CFI CHD7 CHD8 CLIP2 CLRN1 CNGA1 CNGB1 CNTNAP2 COA3 COL10A1 COMT COPB1 CPE CRB1 CREBBP CRX CTNNB1 CTSH CTSK CUL4B CYP19A1 CYP7A1 DCC DDB1 DDX6 DEAF1 DHDDS DHX38 DIS3L2 DLK1 DMPK DNAJC30 DNM2 DNMT3A DPYD DUSP6 DYNC2I2 DYRK1B EDNRB EHMT1 EIF2S3 EIF4H ELN EMD ENPP1 EP300 ERMARD EXOC6B EYS FAM161A FBXO11 FEZF1 FGF17 FGF8 FGFR1 FGFR3 FHL1 FIBP FKBP6 FLII FLRT3 FMR1 FOXP1 FSCN2 FTO FXR1 GABRA3 GABRD GATA4 GCK GHR GHRL GJA5 GJA8 GLI3 GNAI1 GNAS GNAS-AS1 GP1BB GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H6PD HACE1 HCRT HDAC4 HDAC8 HEATR3 HELLPAR HERC1 HERC2 HESX1 HGSNAT HIRA HLA-DQB1 HLA-DRB1 HNF1A HNF4A HS6ST1 HSD11B1 HSPG2 IDH3A IDH3B IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IGF1R IGFALS IGSF1 IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INS IPW IQSEC2 JMJD1C KCNAB2 KCNJ11 KCNJ18 KDM6A KIAA1549 KIDINS220 KIZ KLF11 KLHL7 KMT2C KMT2D LARS2 LAS1L LEP LEPR LHX3 LHX4 LIMK1 LIPE LMNA LRAT LUZP1 LZTFL1 MAGEL2 MAK MAN1B1 MAPK8IP3 MC3R MC4R MCM3AP MECP2 MEG3 MEGF8 MEN1 MERTK METTL27 MIA3 MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP23B MOG MRAP2 MTFMT MTMR14 MTOR MTTP MYF6 MYT1L NCF1 NDN NDNF NDST1 NEK2 NEUROD1 NF2 NHLH2 NIN NIPBL NKAP NPAP1 NPHP1 NR0B2 NR2E3 NR3C1 NRL NSD1 NTRK2 OCA2 ODC1 OFD1 OTX2 P2RY11 P4HTM PAX4 PAX6 PCARE PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PDGFB PDPN PDSS1 PDX1 PHF21A PHF6 PHIP PHKA2 PHKB PHKG2 PIGA PIGL PIGN PIGT PIK3CA PKDCC PNKP PNPLA6 POGZ POMC POMGNT1 POU1F1 POU3F4 PPARG PRCD PRDM16 PRKACA PRKAR1A PRKAR1B PRKCZ PRMT7 PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMD12 PTCH1 PTEN PWAR1 PWRN1 RAB23 RAD21 RAF1 RAI1 RBMX RBP3 RDH12 REEP6 RERE RFC2 RGR RHO RIT1 RLBP1 RNF135 RNPC3 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPS6KA3 RREB1 RTL1 RYR1 SAG SATB1 SCAPER SDC3 SDCCAG8 SEC24C SECISBP2 SEMA3A SEMA4A SETBP1 SETD1A SETD2 SH2B1 SH3KBP1 SHANK3 SHOC2 SHOX SIM1 SIN3A SKI SLC10A7 SLC25A4 SLC7A14 SLC7A7 SMAD4 SMARCB1 SMARCE1 SMC1A SMC3 SMO SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOX10 SOX2 SOX3 SPATA7 SPEN SPG11 SPRY4 SPTBN1 SRY STEEP1 STX16 STX1A SUFU SYNE1 SYNE2 TACR3 TAF1 TAOK1 TBC1D2B TBL2 TBX1 TBX3 TCF20 TERT TFE3 THOC2 THRA THRB TMCO1 TMEM218 TMEM270 TMEM43 TMEM67 TNFSF4 TOGARAM1 TOPORS TP53 TRAF3IP1 TRAF7 TRAPPC9 TRHR TRIM32 TRIP12 TRIP4 TTC8 TUB TULP1 UBE2A UBE3A UBE4B UCP2 UCP3 UFD1 UNC45B USH2A USP48 USP7 USP8 VPS13B VPS37D WAC WDPCP WDR11 WNT4 WT1 XRCC4 XYLT1 YY1 ZBTB20 ZBTB7A ZNF365 ZNF408 ZNF513 ZNF711 ZNRF3 ZPR1

Diseases (332) :ORPHA:791 ORPHA:69663 ORPHA:276575 OMIM:256450 ORPHA:552 OMIM:239850 ORPHA:26793 OMIM:617885 OMIM:620065 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:356996 ORPHA:478 ORPHA:280763 ORPHA:412 OMIM:612291 ORPHA:110 OMIM:209900 OMIM:600151 OMIM:615954 ORPHA:189427 ORPHA:3157 ORPHA:567 OMIM:617796 ORPHA:411515 ORPHA:93952 ORPHA:905 ORPHA:96253 OMIM:309580 ORPHA:904 OMIM:615995 OMIM:615987 OMIM:615989 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615986 ORPHA:893 ORPHA:169189 OMIM:613375 ORPHA:125 ORPHA:529962 ORPHA:54595 OMIM:613706 ORPHA:199 ORPHA:79102 OMIM:251450 ORPHA:1606 ORPHA:244242 ORPHA:1501 OMIM:618620 OMIM:614845 OMIM:615703 OMIM:615991 OMIM:617406 OMIM:615032 ORPHA:163681 OMIM:619058 ORPHA:174 OMIM:619255 OMIM:619326 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:2073 ORPHA:763 OMIM:300354 ORPHA:85293 ORPHA:91 ORPHA:209902 OMIM:619426 OMIM:618653 ORPHA:819 OMIM:267000 ORPHA:254534 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:589821 ORPHA:404443 ORPHA:293948 OMIM:615633 OMIM:615812 OMIM:600501 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:300148 ORPHA:85282 OMIM:194050 ORPHA:98863 ORPHA:353284 ORPHA:75857 OMIM:618395 OMIM:618089 ORPHA:15 ORPHA:500095 OMIM:617107 ORPHA:261483 ORPHA:391372 OMIM:613670 OMIM:612460 OMIM:618822 ORPHA:251071 ORPHA:633 OMIM:612474 ORPHA:672 OMIM:619854 OMIM:219080 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 ORPHA:79445 OMIM:612463 OMIM:604931 OMIM:616756 ORPHA:464282 ORPHA:1001 OMIM:600430 OMIM:300882 ORPHA:3459 OMIM:620072 OMIM:617011 ORPHA:457359 OMIM:176270 ORPHA:226307 ORPHA:324575 OMIM:616026 ORPHA:263455 OMIM:614662 OMIM:619471 OMIM:615630 OMIM:615996 OMIM:617119 ORPHA:73272 OMIM:270450 ORPHA:140941 OMIM:300888 OMIM:610156 ORPHA:75858 ORPHA:217377 ORPHA:276580 ORPHA:79644 OMIM:601820 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 ORPHA:97279 OMIM:619269 OMIM:605231 OMIM:615990 OMIM:614250 OMIM:615457 OMIM:614947 ORPHA:457485 OMIM:616638 OMIM:605552 OMIM:616521 OMIM:616116 OMIM:619755 ORPHA:319675 OMIM:301039 OMIM:117550 OMIM:613886 ORPHA:98794 OMIM:619075 ORPHA:544488 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 ORPHA:589905 ORPHA:264580 ORPHA:79240 OMIM:300868 OMIM:301072 OMIM:280000 OMIM:614080 ORPHA:369837 OMIM:615398 OMIM:618821 ORPHA:459033 ORPHA:2377 ORPHA:468678 OMIM:616364 ORPHA:71526 OMIM:609734 ORPHA:1435 OMIM:615830 OMIM:610489 OMIM:619680 OMIM:617157 ORPHA:464288 OMIM:610628 OMIM:619737 ORPHA:77301 OMIM:605309 OMIM:201000 OMIM:611553 OMIM:182290 OMIM:300238 OMIM:615355 ORPHA:137634 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 OMIM:607721 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:610733 OMIM:619312 ORPHA:2822 OMIM:604360 OMIM:619475 ORPHA:1772 OMIM:301013 OMIM:617757 ORPHA:480907 OMIM:619575 ORPHA:397973 OMIM:188400 OMIM:181450 ORPHA:3138 OMIM:618430 OMIM:301066 OMIM:300957 ORPHA:457240 OMIM:614450 OMIM:274300 OMIM:213980 OMIM:619562 OMIM:619185 OMIM:616629 ORPHA:352530 OMIM:613192 ORPHA:99832 OMIM:615988 OMIM:617752 ORPHA:486815 OMIM:615985 OMIM:616188 OMIM:300860 ORPHA:411511 ORPHA:276556 OMIM:619178 ORPHA:500055 OMIM:216550 ORPHA:193 ORPHA:466950 ORPHA:247768 OMIM:616541 OMIM:615777 ORPHA:370930 OMIM:259050 OMIM:619769 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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