Human Phenotype Ontology

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:0040202	HP:0040202	Abnormal consumption behavior	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0040202	HP:0040202	Abnormal consumption behavior	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0040202	HP:0040202	Abnormal consumption behavior	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0040202	HP:0040202	Abnormal consumption behavior	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0040202	HP:0040202	Abnormal consumption behavior	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0040202	HP:0040202	Abnormal consumption behavior	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0040202	HP:0040202	Abnormal consumption behavior	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0040202	HP:0040202	Abnormal consumption behavior	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0040202	HP:0040202	Abnormal consumption behavior	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0040202	HP:0040202	Abnormal consumption behavior	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0040202	HP:0040202	Abnormal consumption behavior	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0040202	HP:0040202	Abnormal consumption behavior	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome			3
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0040202	HP:0040202	Abnormal consumption behavior	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0040202	HP:0040202	Abnormal consumption behavior	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0040202	HP:0040202	Abnormal consumption behavior	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0040202	HP:0040202	Abnormal consumption behavior	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0040202	HP:0040202	Abnormal consumption behavior	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0040202	HP:0040202	Abnormal consumption behavior	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0040202	HP:0040202	Abnormal consumption behavior	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0040202	HP:0040202	Abnormal consumption behavior	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0040202	HP:0040202	Abnormal consumption behavior	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0040202	HP:0040202	Abnormal consumption behavior	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0040202	HP:0040202	Abnormal consumption behavior	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0040202	HP:0040202	Abnormal consumption behavior	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0040202	HP:0040202	Abnormal consumption behavior	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0040202	HP:0040202	Abnormal consumption behavior	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome			9
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0040202	HP:0040202	Abnormal consumption behavior	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0040202	HP:0040202	Abnormal consumption behavior	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0040202	HP:0040202	Abnormal consumption behavior	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0040202	HP:0040202	Abnormal consumption behavior	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0040202	HP:0040202	Abnormal consumption behavior	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0040202	HP:0040202	Abnormal consumption behavior	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0040202	HP:0040202	Abnormal consumption behavior	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0040202	HP:0040202	Abnormal consumption behavior	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0040202	HP:0040202	Abnormal consumption behavior	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0040202	HP:0040202	Abnormal consumption behavior	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III			128
HP:0040202	HP:0040202	Abnormal consumption behavior	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0040202	HP:0040202	Abnormal consumption behavior	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction			47
HP:0040202	HP:0040202	Abnormal consumption behavior	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0040202	HP:0040202	Abnormal consumption behavior	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0040202	HP:0040202	Abnormal consumption behavior	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0040202	HP:0040202	Abnormal consumption behavior	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome			5
HP:0040202	HP:0040202	Abnormal consumption behavior	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0040202	HP:0040202	Abnormal consumption behavior	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1			85
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4			220
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0040202	HP:0040202	Abnormal consumption behavior	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0040202	HP:0040202	Abnormal consumption behavior	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0040202	HP:0040202	Abnormal consumption behavior	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0040202	HP:0040202	Abnormal consumption behavior	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0040202	HP:0040202	Abnormal consumption behavior	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0040202	HP:0040202	Abnormal consumption behavior	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0040202	HP:0040202	Abnormal consumption behavior	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0040202	HP:0040202	Abnormal consumption behavior	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria			41
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0040202	HP:0040202	Abnormal consumption behavior	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0040202	HP:0040202	Abnormal consumption behavior	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0040202	HP:0040202	Abnormal consumption behavior	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0040202	HP:0040202	Abnormal consumption behavior	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0040202	HP:0040202	Abnormal consumption behavior	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0040202	HP:0040202	Abnormal consumption behavior	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0040202	HP:0040202	Abnormal consumption behavior	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0040202	Abnormal consumption behavior	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0040202	HP:0040202	Abnormal consumption behavior	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0040202	HP:0040202	Abnormal consumption behavior	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0040202	HP:0040202	Abnormal consumption behavior	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0040202	HP:0040202	Abnormal consumption behavior	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0040202	HP:0100738	Abnormal eating behavior	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0040202	HP:0100738	Abnormal eating behavior	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0040202	HP:0100738	Abnormal eating behavior	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0040202	HP:0100738	Abnormal eating behavior	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0040202	HP:0100738	Abnormal eating behavior	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0040202	HP:0100738	Abnormal eating behavior	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0040202	HP:0100738	Abnormal eating behavior	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0040202	HP:0030082	Abnormal drinking behavior	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0040202	HP:0030082	Abnormal drinking behavior	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0040202	HP:0100738	Abnormal eating behavior	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0040202	HP:0100738	Abnormal eating behavior	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0040202	HP:0100738	Abnormal eating behavior	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0040202	HP:0030082	Abnormal drinking behavior	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0040202	HP:0100738	Abnormal eating behavior	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0040202	HP:0100738	Abnormal eating behavior	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0040202	HP:0030082	Abnormal drinking behavior	1	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0040202	HP:0030082	Abnormal drinking behavior	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0040202	HP:0030082	Abnormal drinking behavior	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0040202	HP:0100738	Abnormal eating behavior	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0040202	HP:0030082	Abnormal drinking behavior	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0040202	HP:0100738	Abnormal eating behavior	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0040202	HP:0100738	Abnormal eating behavior	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0040202	HP:0030082	Abnormal drinking behavior	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0040202	HP:0100738	Abnormal eating behavior	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0040202	HP:0100738	Abnormal eating behavior	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0040202	HP:0100738	Abnormal eating behavior	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0040202	HP:0100738	Abnormal eating behavior	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0040202	HP:0100738	Abnormal eating behavior	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0040202	HP:0100738	Abnormal eating behavior	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome			3
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0040202	HP:0100738	Abnormal eating behavior	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0040202	HP:0100738	Abnormal eating behavior	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0040202	HP:0030082	Abnormal drinking behavior	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0040202	HP:0030082	Abnormal drinking behavior	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0040202	HP:0100738	Abnormal eating behavior	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0040202	HP:0100738	Abnormal eating behavior	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0040202	HP:0030082	Abnormal drinking behavior	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0040202	HP:0100738	Abnormal eating behavior	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0040202	HP:0100738	Abnormal eating behavior	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0040202	HP:0030082	Abnormal drinking behavior	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0040202	HP:0100738	Abnormal eating behavior	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0040202	HP:0100738	Abnormal eating behavior	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0040202	HP:0100738	Abnormal eating behavior	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0040202	HP:0100738	Abnormal eating behavior	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0040202	HP:0100738	Abnormal eating behavior	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0040202	HP:0100738	Abnormal eating behavior	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0040202	HP:0100738	Abnormal eating behavior	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0040202	HP:0030082	Abnormal drinking behavior	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0040202	HP:0100738	Abnormal eating behavior	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0040202	HP:0030082	Abnormal drinking behavior	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0040202	HP:0100738	Abnormal eating behavior	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0040202	HP:0030082	Abnormal drinking behavior	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0040202	HP:0030082	Abnormal drinking behavior	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome			9
HP:0040202	HP:0030082	Abnormal drinking behavior	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0040202	HP:0100738	Abnormal eating behavior	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0040202	HP:0100738	Abnormal eating behavior	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0040202	HP:0100738	Abnormal eating behavior	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0040202	HP:0030082	Abnormal drinking behavior	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0040202	HP:0100738	Abnormal eating behavior	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0040202	HP:0030082	Abnormal drinking behavior	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0040202	HP:0100738	Abnormal eating behavior	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0030082	Abnormal drinking behavior	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0040202	HP:0030082	Abnormal drinking behavior	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0040202	HP:0100738	Abnormal eating behavior	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0040202	HP:0100738	Abnormal eating behavior	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0040202	HP:0030082	Abnormal drinking behavior	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0040202	HP:0030082	Abnormal drinking behavior	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0040202	HP:0100738	Abnormal eating behavior	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0040202	HP:0100738	Abnormal eating behavior	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0040202	HP:0030082	Abnormal drinking behavior	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0040202	HP:0100738	Abnormal eating behavior	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0040202	HP:0030082	Abnormal drinking behavior	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0040202	HP:0030082	Abnormal drinking behavior	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III			128
HP:0040202	HP:0100738	Abnormal eating behavior	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent		16
HP:0040202	HP:0100738	Abnormal eating behavior	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.		47
HP:0040202	HP:0100738	Abnormal eating behavior	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0040202	HP:0100738	Abnormal eating behavior	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040280 - Obligate	HP:0003593 - Infantile onset	46
HP:0040202	HP:0100738	Abnormal eating behavior	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0040202	HP:0030082	Abnormal drinking behavior	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome			5
HP:0040202	HP:0100738	Abnormal eating behavior	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0030082	Abnormal drinking behavior	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0040202	HP:0100738	Abnormal eating behavior	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0040202	HP:0100738	Abnormal eating behavior	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0040202	HP:0100738	Abnormal eating behavior	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0040202	HP:0100738	Abnormal eating behavior	1	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0040202	HP:0100738	Abnormal eating behavior	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0040202	HP:0100738	Abnormal eating behavior	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0040202	HP:0100738	Abnormal eating behavior	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0040202	HP:0100738	Abnormal eating behavior	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0040202	HP:0100738	Abnormal eating behavior	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0040202	HP:0100738	Abnormal eating behavior	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0040202	HP:0100738	Abnormal eating behavior	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0040202	HP:0100738	Abnormal eating behavior	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0040202	HP:0100738	Abnormal eating behavior	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0040202	HP:0100738	Abnormal eating behavior	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0040202	HP:0100738	Abnormal eating behavior	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0040202	HP:0100738	Abnormal eating behavior	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0040202	HP:0100738	Abnormal eating behavior	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0040202	HP:0030082	Abnormal drinking behavior	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0040202	HP:0030082	Abnormal drinking behavior	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0040202	HP:0100738	Abnormal eating behavior	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0040202	HP:0030082	Abnormal drinking behavior	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1			85
HP:0040202	HP:0030082	Abnormal drinking behavior	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0040202	HP:0030082	Abnormal drinking behavior	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0040202	HP:0030082	Abnormal drinking behavior	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4			220
HP:0040202	HP:0030082	Abnormal drinking behavior	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0040202	HP:0100738	Abnormal eating behavior	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0040202	HP:0100738	Abnormal eating behavior	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0040202	HP:0100738	Abnormal eating behavior	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0040202	HP:0100738	Abnormal eating behavior	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0040202	HP:0100738	Abnormal eating behavior	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0040202	HP:0030082	Abnormal drinking behavior	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0040202	HP:0100738	Abnormal eating behavior	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0040202	HP:0100738	Abnormal eating behavior	1	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040284 - Very rare		225
HP:0040202	HP:0100738	Abnormal eating behavior	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0040202	HP:0100738	Abnormal eating behavior	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0030082	Abnormal drinking behavior	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0040202	HP:0100738	Abnormal eating behavior	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0040202	HP:0100738	Abnormal eating behavior	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0040202	HP:0100738	Abnormal eating behavior	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0040202	HP:0100738	Abnormal eating behavior	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0040202	HP:0100738	Abnormal eating behavior	1	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0040202	HP:0100738	Abnormal eating behavior	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0030082	Abnormal drinking behavior	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0040202	HP:0100738	Abnormal eating behavior	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0040202	HP:0100738	Abnormal eating behavior	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0040202	HP:0030082	Abnormal drinking behavior	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0040202	HP:0100738	Abnormal eating behavior	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0040202	HP:0100738	Abnormal eating behavior	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0040202	HP:0100738	Abnormal eating behavior	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0040202	HP:0100738	Abnormal eating behavior	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0040202	HP:0100738	Abnormal eating behavior	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0040202	HP:0100738	Abnormal eating behavior	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0040202	HP:0100738	Abnormal eating behavior	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0040202	HP:0100738	Abnormal eating behavior	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0040202	HP:0100738	Abnormal eating behavior	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0040202	HP:0100738	Abnormal eating behavior	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0040202	HP:0030082	Abnormal drinking behavior	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0040202	HP:0030082	Abnormal drinking behavior	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0040202	HP:0030082	Abnormal drinking behavior	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria			41
HP:0040202	HP:0030082	Abnormal drinking behavior	1	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria			41
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0040202	HP:0100738	Abnormal eating behavior	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0040202	HP:0100738	Abnormal eating behavior	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0040202	HP:0100738	Abnormal eating behavior	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0040202	HP:0100738	Abnormal eating behavior	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0040202	HP:0100738	Abnormal eating behavior	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0040202	HP:0100738	Abnormal eating behavior	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0040202	HP:0100738	Abnormal eating behavior	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0040202	HP:0100738	Abnormal eating behavior	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0040202	HP:0100738	Abnormal eating behavior	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0040202	HP:0100738	Abnormal eating behavior	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0040202	HP:0100738	Abnormal eating behavior	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0040202	HP:0100738	Abnormal eating behavior	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0040202	HP:0030082	Abnormal drinking behavior	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0040202	HP:0030082	Abnormal drinking behavior	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0040202	HP:0100738	Abnormal eating behavior	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0040202	HP:0100738	Abnormal eating behavior	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0040202	HP:0100738	Abnormal eating behavior	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0040202	HP:0030082	Abnormal drinking behavior	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0040202	HP:0030082	Abnormal drinking behavior	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0040202	HP:0100738	Abnormal eating behavior	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0040202	HP:0100738	Abnormal eating behavior	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0040202	HP:0100738	Abnormal eating behavior	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0040202	HP:0100738	Abnormal eating behavior	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0040202	HP:0100738	Abnormal eating behavior	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0040202	HP:0100738	Abnormal eating behavior	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0040202	HP:0030082	Abnormal drinking behavior	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0040202	HP:0100738	Abnormal eating behavior	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0040202	HP:0100738	Abnormal eating behavior	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0040202	HP:0030221	Sweet craving	2	CL E G H
HP:0040202	HP:0025382	Hypodipsia	2	CL E G H
HP:0040202	HP:0002591	Polyphagia	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0040202	HP:0012523	Oral aversion	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0040202	HP:0002591	Polyphagia	2	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0040202	HP:0002591	Polyphagia	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent		47
HP:0040202	HP:0002591	Polyphagia	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0040202	HP:0030842	Choking episodes	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0040202	HP:0002591	Polyphagia	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0040202	HP:0001959	Polydipsia	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0040202	HP:0001959	Polydipsia	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent		75
HP:0040202	HP:0012523	Oral aversion	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0040202	HP:0012523	Oral aversion	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0040202	HP:0012523	Oral aversion	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0040202	HP:0001959	Polydipsia	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0040202	HP:0011856	Pica	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0040202	HP:0002591	Polyphagia	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0040202	HP:0001959	Polydipsia	2	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040281 - Very frequent		22
HP:0040202	HP:0001959	Polydipsia	2	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0040202	HP:0001959	Polydipsia	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent		67
HP:0040202	HP:0001959	Polydipsia	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0040202	HP:0002591	Polyphagia	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0040202	HP:0002591	Polyphagia	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0040202	HP:0002591	Polyphagia	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0040202	HP:0001959	Polydipsia	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0040202	HP:0030842	Choking episodes	2	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0040202	HP:0001959	Polydipsia	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent		51
HP:0040202	HP:0001959	Polydipsia	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0040202	HP:0002591	Polyphagia	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0040202	HP:0001959	Polydipsia	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent		169
HP:0040202	HP:0001959	Polydipsia	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent		169
HP:0040202	HP:0011856	Pica	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0040202	HP:0030842	Choking episodes	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0040202	HP:0011856	Pica	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0040202	HP:0001959	Polydipsia	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent		3
HP:0040202	HP:0001959	Polydipsia	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0040202	HP:0030083	Salt craving	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		27
HP:0040202	HP:0001959	Polydipsia	2	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome	.		3
HP:0040202	HP:0001959	Polydipsia	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0040202	HP:0030842	Choking episodes	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0040202	HP:0002591	Polyphagia	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0040202	HP:0001959	Polydipsia	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0040202	HP:0001959	Polydipsia	2	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0040202	HP:0001959	Polydipsia	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional		178
HP:0040202	HP:0001959	Polydipsia	2	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		112
HP:0040202	HP:0001959	Polydipsia	2	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		73
HP:0040202	HP:0001959	Polydipsia	2	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0040202	HP:0011856	Pica	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0040202	HP:0012523	Oral aversion	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0040202	HP:0001959	Polydipsia	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0040202	HP:0011856	Pica	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0040202	HP:0002591	Polyphagia	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0040202	HP:0001959	Polydipsia	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0040202	HP:0002591	Polyphagia	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0040202	HP:0002591	Polyphagia	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0040202	HP:0002591	Polyphagia	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0040202	HP:0002591	Polyphagia	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.		5
HP:0040202	HP:0012523	Oral aversion	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0040202	HP:0002591	Polyphagia	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0040202	HP:0002591	Polyphagia	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0040202	HP:0001959	Polydipsia	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0040202	HP:0002591	Polyphagia	2	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		161
HP:0040202	HP:0001959	Polydipsia	2	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		161
HP:0040202	HP:0002591	Polyphagia	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0040202	HP:0001959	Polydipsia	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0040202	HP:0001959	Polydipsia	2	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional		9
HP:0040202	HP:0001959	Polydipsia	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent		14
HP:0040202	HP:0002591	Polyphagia	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0040202	HP:0002591	Polyphagia	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0040202	HP:0030842	Choking episodes	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0040202	HP:0002591	Polyphagia	2	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0040202	HP:0001959	Polydipsia	2	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		2
HP:0040202	HP:0002591	Polyphagia	2	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		2
HP:0040202	HP:0001959	Polydipsia	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0040202	HP:0002591	Polyphagia	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0001959	Polydipsia	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0040202	HP:0002591	Polyphagia	2	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0040202	HP:0001959	Polydipsia	2	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0040202	HP:0002591	Polyphagia	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0040202	HP:0001959	Polydipsia	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0040202	HP:0030083	Salt craving	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent		121
HP:0040202	HP:0001959	Polydipsia	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040282 - Frequent		121
HP:0040202	HP:0030083	Salt craving	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0040202	HP:0001959	Polydipsia	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0040202	HP:0002591	Polyphagia	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0040202	HP:0001959	Polydipsia	2	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional		128
HP:0040202	HP:0001959	Polydipsia	2	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	HP:0040283 - Occasional		128
HP:0040202	HP:0002591	Polyphagia	2	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.		47
HP:0040202	HP:0002591	Polyphagia	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent		47
HP:0040202	HP:0002591	Polyphagia	2	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.		46
HP:0040202	HP:0002591	Polyphagia	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent		46
HP:0040202	HP:0001959	Polydipsia	2	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional		5
HP:0040202	HP:0002591	Polyphagia	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0040202	HP:0001959	Polydipsia	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0040202	HP:0002591	Polyphagia	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0040202	HP:0002591	Polyphagia	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0040202	HP:0002591	Polyphagia	2	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0040202	HP:0002591	Polyphagia	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0040202	HP:0100739	Bulimia	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0040202	HP:0100739	Bulimia	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0040202	HP:0002591	Polyphagia	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0040202	HP:0100739	Bulimia	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0040202	HP:0002591	Polyphagia	2	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:0040202	HP:0002591	Polyphagia	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0040202	HP:0002591	Polyphagia	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0040202	HP:0002591	Polyphagia	2	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0040202	HP:0002591	Polyphagia	2	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0040202	HP:0002591	Polyphagia	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0040202	HP:0002591	Polyphagia	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0040202	HP:0002591	Polyphagia	2	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0040202	HP:0002591	Polyphagia	2	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040281 - Very frequent		54
HP:0040202	HP:0012523	Oral aversion	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0040202	HP:0002591	Polyphagia	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		462
HP:0040202	HP:0002591	Polyphagia	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0040202	HP:0002591	Polyphagia	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0002591	Polyphagia	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0040202	HP:0002591	Polyphagia	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0040202	HP:0030842	Choking episodes	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0040202	HP:0002591	Polyphagia	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0040202	HP:0002591	Polyphagia	2	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0040202	HP:0100739	Bulimia	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0040202	HP:0002591	Polyphagia	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0040202	HP:0002591	Polyphagia	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0040202	HP:0100739	Bulimia	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0040202	HP:0002591	Polyphagia	2	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:0040202	HP:0100739	Bulimia	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0040202	HP:0100739	Bulimia	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0040202	HP:0001959	Polydipsia	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0040202	HP:0002591	Polyphagia	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0040202	HP:0001959	Polydipsia	2	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.		85
HP:0040202	HP:0001959	Polydipsia	2	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.		85
HP:0040202	HP:0001959	Polydipsia	2	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.		157
HP:0040202	HP:0001959	Polydipsia	2	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.		220
HP:0040202	HP:0001959	Polydipsia	2	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0040202	HP:0002591	Polyphagia	2	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.		8
HP:0040202	HP:0002591	Polyphagia	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0040202	HP:0100739	Bulimia	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0040202	HP:0100739	Bulimia	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0040202	HP:0002591	Polyphagia	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0040202	HP:0100739	Bulimia	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0040202	HP:0002591	Polyphagia	2	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:0040202	HP:0001959	Polydipsia	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0040202	HP:0012523	Oral aversion	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent		24
HP:0040202	HP:0002591	Polyphagia	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040281 - Very frequent		65
HP:0040202	HP:0002591	Polyphagia	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0040202	HP:0001959	Polydipsia	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0040202	HP:0030842	Choking episodes	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare		133
HP:0040202	HP:0002591	Polyphagia	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040281 - Very frequent		27
HP:0040202	HP:0002591	Polyphagia	2	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0040202	HP:0002591	Polyphagia	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0040202	HP:0002591	Polyphagia	2	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		7
HP:0040202	HP:0002591	Polyphagia	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0040202	HP:0001959	Polydipsia	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0040202	HP:0002591	Polyphagia	2	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0040202	HP:0002591	Polyphagia	2	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0040202	HP:0001959	Polydipsia	2	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		3
HP:0040202	HP:0002591	Polyphagia	2	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		3
HP:0040202	HP:0002591	Polyphagia	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0002591	Polyphagia	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0002591	Polyphagia	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0040202	HP:0002591	Polyphagia	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0040202	HP:0030842	Choking episodes	2	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare		263
HP:0040202	HP:0002591	Polyphagia	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0040202	HP:0002591	Polyphagia	2	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:0040202	HP:0002591	Polyphagia	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0040202	HP:0002591	Polyphagia	2	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent		40
HP:0040202	HP:0002591	Polyphagia	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0040202	HP:0002591	Polyphagia	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0040202	HP:0030083	Salt craving	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0040202	HP:0001959	Polydipsia	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0040202	HP:0001959	Polydipsia	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0040202	HP:0030083	Salt craving	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		145
HP:0040202	HP:0030842	Choking episodes	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0040202	HP:0030842	Choking episodes	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0040202	HP:0030842	Choking episodes	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0040202	HP:0002591	Polyphagia	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0040202	HP:0002591	Polyphagia	2	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		55
HP:0040202	HP:0001959	Polydipsia	2	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0040202	HP:0002591	Polyphagia	2	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.		41
HP:0040202	HP:0001959	Polydipsia	2	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.		41
HP:0040202	HP:0030842	Choking episodes	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0040202	HP:0012523	Oral aversion	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0040202	HP:0012523	Oral aversion	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0040202	HP:0012523	Oral aversion	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0040202	HP:0012523	Oral aversion	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0040202	HP:0012523	Oral aversion	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0040202	HP:0012523	Oral aversion	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0040202	HP:0030842	Choking episodes	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0040202	HP:0002591	Polyphagia	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0002591	Polyphagia	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0040202	HP:0002591	Polyphagia	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0040202	HP:0002591	Polyphagia	2	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0040202	HP:0002591	Polyphagia	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0040202	HP:0100739	Bulimia	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0040202	HP:0100739	Bulimia	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0040202	HP:0002591	Polyphagia	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0040202	HP:0100739	Bulimia	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0040202	HP:0002591	Polyphagia	2	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:0040202	HP:0012523	Oral aversion	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0040202	HP:0001959	Polydipsia	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0040202	HP:0001959	Polydipsia	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0040202	HP:0012523	Oral aversion	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0040202	HP:0002591	Polyphagia	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0040202	HP:0030842	Choking episodes	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0040202	HP:0001959	Polydipsia	2	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0040202	HP:0001959	Polydipsia	2	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0040202	HP:0002591	Polyphagia	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0040202	HP:0002591	Polyphagia	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0040202	HP:0002591	Polyphagia	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0040202	HP:0030842	Choking episodes	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0040202	HP:0001959	Polydipsia	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent		389
HP:0040202	HP:0002591	Polyphagia	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		7
HP:0040202	HP:0030842	Choking episodes	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0040202	HP:0025062	Geophagia	3	CL E G H