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:
Behavioral abnormality (HP:0000708)

Parent Node:
Abnormal consumption behavior (HP:0040202)

..Starting node
..Abnormal eating behavior (HP:0100738)

Term ID:

100738

Name:

Abnormal eating behavior

Synonym:

Abnormal eating behavior; Abnormal eating behaviour

Definition:

Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.

Comments:

Reference:

HP:0100738

Genes and Diseases:

Child Nodes:

........

Polyphagia (HP:0002591)

........

Pica (HP:0011856)

................... HP:0025062 Geophagia

........

Oral aversion (HP:0012523)

........

Salt craving (HP:0030083)

........

Sweet craving (HP:0030221)

........

Choking episodes (HP:0030842)

........

Bulimia (HP:0100739)

Sister Nodes:

Abnormal drinking behavior (HP:0030082)

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:0100738	HP:0100738	Abnormal eating behavior	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0100738	HP:0100738	Abnormal eating behavior	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0100738	HP:0100738	Abnormal eating behavior	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0100738	HP:0100738	Abnormal eating behavior	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0100738	HP:0100738	Abnormal eating behavior	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0100738	HP:0100738	Abnormal eating behavior	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0100738	HP:0100738	Abnormal eating behavior	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0100738	HP:0100738	Abnormal eating behavior	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0100738	HP:0100738	Abnormal eating behavior	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0100738	HP:0100738	Abnormal eating behavior	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0100738	HP:0100738	Abnormal eating behavior	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0100738	HP:0100738	Abnormal eating behavior	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0100738	HP:0100738	Abnormal eating behavior	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0100738	HP:0100738	Abnormal eating behavior	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0100738	HP:0100738	Abnormal eating behavior	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0100738	HP:0100738	Abnormal eating behavior	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0100738	HP:0100738	Abnormal eating behavior	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0100738	HP:0100738	Abnormal eating behavior	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0100738	HP:0100738	Abnormal eating behavior	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0100738	HP:0100738	Abnormal eating behavior	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0100738	HP:0100738	Abnormal eating behavior	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0100738	HP:0100738	Abnormal eating behavior	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0100738	HP:0100738	Abnormal eating behavior	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0100738	HP:0100738	Abnormal eating behavior	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0100738	HP:0100738	Abnormal eating behavior	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0100738	HP:0100738	Abnormal eating behavior	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0100738	HP:0100738	Abnormal eating behavior	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0100738	HP:0100738	Abnormal eating behavior	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0100738	HP:0100738	Abnormal eating behavior	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0100738	HP:0100738	Abnormal eating behavior	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0100738	HP:0100738	Abnormal eating behavior	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0100738	HP:0100738	Abnormal eating behavior	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0100738	HP:0100738	Abnormal eating behavior	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0100738	HP:0100738	Abnormal eating behavior	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0100738	HP:0100738	Abnormal eating behavior	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0100738	HP:0100738	Abnormal eating behavior	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0100738	HP:0100738	Abnormal eating behavior	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0100738	HP:0100738	Abnormal eating behavior	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0100738	HP:0100738	Abnormal eating behavior	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0100738	HP:0100738	Abnormal eating behavior	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0100738	HP:0100738	Abnormal eating behavior	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0100738	HP:0100738	Abnormal eating behavior	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0100738	HP:0100738	Abnormal eating behavior	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0100738	HP:0100738	Abnormal eating behavior	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0100738	HP:0100738	Abnormal eating behavior	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0100738	HP:0100738	Abnormal eating behavior	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent		16
HP:0100738	HP:0100738	Abnormal eating behavior	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.		47
HP:0100738	HP:0100738	Abnormal eating behavior	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0100738	HP:0100738	Abnormal eating behavior	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040280 - Obligate	HP:0003593 - Infantile onset	46
HP:0100738	HP:0100738	Abnormal eating behavior	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0100738	HP:0100738	Abnormal eating behavior	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0100738	HP:0100738	Abnormal eating behavior	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0100738	HP:0100738	Abnormal eating behavior	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0100738	HP:0100738	Abnormal eating behavior	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0100738	HP:0100738	Abnormal eating behavior	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0100738	HP:0100738	Abnormal eating behavior	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0100738	HP:0100738	Abnormal eating behavior	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0100738	HP:0100738	Abnormal eating behavior	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0100738	HP:0100738	Abnormal eating behavior	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0100738	HP:0100738	Abnormal eating behavior	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0100738	HP:0100738	Abnormal eating behavior	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0100738	HP:0100738	Abnormal eating behavior	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0100738	HP:0100738	Abnormal eating behavior	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0100738	HP:0100738	Abnormal eating behavior	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0100738	HP:0100738	Abnormal eating behavior	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0100738	HP:0100738	Abnormal eating behavior	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0100738	HP:0100738	Abnormal eating behavior	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0100738	HP:0100738	Abnormal eating behavior	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0100738	HP:0100738	Abnormal eating behavior	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0100738	HP:0100738	Abnormal eating behavior	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0100738	HP:0100738	Abnormal eating behavior	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0100738	HP:0100738	Abnormal eating behavior	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0100738	HP:0100738	Abnormal eating behavior	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0100738	HP:0100738	Abnormal eating behavior	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0100738	HP:0100738	Abnormal eating behavior	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0100738	HP:0100738	Abnormal eating behavior	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040284 - Very rare		225
HP:0100738	HP:0100738	Abnormal eating behavior	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0100738	HP:0100738	Abnormal eating behavior	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0100738	HP:0100738	Abnormal eating behavior	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0100738	HP:0100738	Abnormal eating behavior	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0100738	HP:0100738	Abnormal eating behavior	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0100738	HP:0100738	Abnormal eating behavior	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0100738	HP:0100738	Abnormal eating behavior	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0100738	HP:0100738	Abnormal eating behavior	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0100738	HP:0100738	Abnormal eating behavior	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0100738	HP:0100738	Abnormal eating behavior	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0100738	HP:0100738	Abnormal eating behavior	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0100738	HP:0100738	Abnormal eating behavior	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0100738	HP:0100738	Abnormal eating behavior	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0100738	HP:0100738	Abnormal eating behavior	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0100738	HP:0100738	Abnormal eating behavior	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0100738	HP:0100738	Abnormal eating behavior	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0100738	HP:0100738	Abnormal eating behavior	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0100738	HP:0100738	Abnormal eating behavior	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria			41
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0100738	HP:0100738	Abnormal eating behavior	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0100738	HP:0100738	Abnormal eating behavior	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0100738	HP:0100738	Abnormal eating behavior	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0100738	HP:0100738	Abnormal eating behavior	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0100738	HP:0100738	Abnormal eating behavior	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0100738	HP:0100738	Abnormal eating behavior	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0100738	HP:0100738	Abnormal eating behavior	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0100738	HP:0100738	Abnormal eating behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0100738	HP:0100738	Abnormal eating behavior	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0100738	HP:0100738	Abnormal eating behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0100738	HP:0100738	Abnormal eating behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0100738	HP:0100738	Abnormal eating behavior	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0100738	HP:0100738	Abnormal eating behavior	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0100738	HP:0100738	Abnormal eating behavior	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0100738	HP:0100738	Abnormal eating behavior	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0100738	HP:0100738	Abnormal eating behavior	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0100738	HP:0100738	Abnormal eating behavior	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0100738	HP:0100738	Abnormal eating behavior	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0100738	HP:0100738	Abnormal eating behavior	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0100738	HP:0100738	Abnormal eating behavior	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0100738	HP:0100738	Abnormal eating behavior	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0100738	HP:0100738	Abnormal eating behavior	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0100738	HP:0100738	Abnormal eating behavior	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100738	HP:0030221	Sweet craving	1	CL E G H
HP:0100738	HP:0002591	Polyphagia	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0100738	HP:0012523	Oral aversion	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0100738	HP:0002591	Polyphagia	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0100738	HP:0002591	Polyphagia	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent		47
HP:0100738	HP:0002591	Polyphagia	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0100738	HP:0030842	Choking episodes	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0100738	HP:0002591	Polyphagia	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0100738	HP:0012523	Oral aversion	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0100738	HP:0012523	Oral aversion	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0100738	HP:0012523	Oral aversion	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0100738	HP:0011856	Pica	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0100738	HP:0002591	Polyphagia	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0100738	HP:0002591	Polyphagia	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0100738	HP:0002591	Polyphagia	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0100738	HP:0002591	Polyphagia	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0100738	HP:0030842	Choking episodes	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0100738	HP:0002591	Polyphagia	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0100738	HP:0011856	Pica	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0100738	HP:0030842	Choking episodes	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0100738	HP:0011856	Pica	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0100738	HP:0030083	Salt craving	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		27
HP:0100738	HP:0030842	Choking episodes	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0100738	HP:0002591	Polyphagia	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0100738	HP:0011856	Pica	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0100738	HP:0012523	Oral aversion	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0100738	HP:0011856	Pica	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0100738	HP:0002591	Polyphagia	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0100738	HP:0002591	Polyphagia	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0100738	HP:0002591	Polyphagia	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0100738	HP:0002591	Polyphagia	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0100738	HP:0002591	Polyphagia	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.		5
HP:0100738	HP:0012523	Oral aversion	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0100738	HP:0002591	Polyphagia	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0100738	HP:0002591	Polyphagia	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0100738	HP:0002591	Polyphagia	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		161
HP:0100738	HP:0002591	Polyphagia	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0100738	HP:0002591	Polyphagia	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0100738	HP:0002591	Polyphagia	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0100738	HP:0030842	Choking episodes	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0100738	HP:0002591	Polyphagia	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0100738	HP:0002591	Polyphagia	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		2
HP:0100738	HP:0002591	Polyphagia	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0002591	Polyphagia	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0100738	HP:0002591	Polyphagia	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0100738	HP:0030083	Salt craving	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent		121
HP:0100738	HP:0030083	Salt craving	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0100738	HP:0002591	Polyphagia	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0100738	HP:0002591	Polyphagia	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.		47
HP:0100738	HP:0002591	Polyphagia	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent		47
HP:0100738	HP:0002591	Polyphagia	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.		46
HP:0100738	HP:0002591	Polyphagia	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent		46
HP:0100738	HP:0002591	Polyphagia	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100738	HP:0002591	Polyphagia	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0100738	HP:0002591	Polyphagia	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0100738	HP:0002591	Polyphagia	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0100738	HP:0002591	Polyphagia	1	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:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0002591	Polyphagia	1	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:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0002591	Polyphagia	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:0100738	HP:0002591	Polyphagia	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0100738	HP:0002591	Polyphagia	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0100738	HP:0002591	Polyphagia	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0100738	HP:0002591	Polyphagia	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0100738	HP:0002591	Polyphagia	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0100738	HP:0002591	Polyphagia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0100738	HP:0002591	Polyphagia	1	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0100738	HP:0002591	Polyphagia	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040281 - Very frequent		54
HP:0100738	HP:0012523	Oral aversion	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0100738	HP:0002591	Polyphagia	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		462
HP:0100738	HP:0002591	Polyphagia	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0100738	HP:0002591	Polyphagia	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0002591	Polyphagia	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100738	HP:0002591	Polyphagia	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0100738	HP:0030842	Choking episodes	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0100738	HP:0002591	Polyphagia	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0100738	HP:0002591	Polyphagia	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0100738	HP:0002591	Polyphagia	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0100738	HP:0100739	Bulimia	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0100738	HP:0100739	Bulimia	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0100738	HP:0002591	Polyphagia	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0100738	HP:0002591	Polyphagia	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:0100738	HP:0100739	Bulimia	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0100738	HP:0100739	Bulimia	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0100738	HP:0002591	Polyphagia	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0100738	HP:0002591	Polyphagia	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.		8
HP:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0002591	Polyphagia	1	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:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0002591	Polyphagia	1	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:0100738	HP:0002591	Polyphagia	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:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0012523	Oral aversion	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent		24
HP:0100738	HP:0002591	Polyphagia	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040281 - Very frequent		65
HP:0100738	HP:0002591	Polyphagia	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100738	HP:0030842	Choking episodes	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare		133
HP:0100738	HP:0002591	Polyphagia	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040281 - Very frequent		27
HP:0100738	HP:0002591	Polyphagia	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0100738	HP:0002591	Polyphagia	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0100738	HP:0002591	Polyphagia	1	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		7
HP:0100738	HP:0002591	Polyphagia	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100738	HP:0002591	Polyphagia	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0100738	HP:0002591	Polyphagia	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0100738	HP:0002591	Polyphagia	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		3
HP:0100738	HP:0002591	Polyphagia	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0002591	Polyphagia	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0002591	Polyphagia	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0100738	HP:0002591	Polyphagia	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0100738	HP:0030842	Choking episodes	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare		263
HP:0100738	HP:0002591	Polyphagia	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0100738	HP:0002591	Polyphagia	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:0100738	HP:0002591	Polyphagia	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0100738	HP:0002591	Polyphagia	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent		40
HP:0100738	HP:0002591	Polyphagia	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0100738	HP:0002591	Polyphagia	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0100738	HP:0030083	Salt craving	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0100738	HP:0030083	Salt craving	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		145
HP:0100738	HP:0030842	Choking episodes	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0100738	HP:0030842	Choking episodes	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0100738	HP:0030842	Choking episodes	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0100738	HP:0002591	Polyphagia	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0100738	HP:0002591	Polyphagia	1	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		55
HP:0100738	HP:0002591	Polyphagia	1	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.		41
HP:0100738	HP:0030842	Choking episodes	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0100738	HP:0012523	Oral aversion	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0100738	HP:0012523	Oral aversion	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0100738	HP:0012523	Oral aversion	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0100738	HP:0012523	Oral aversion	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0100738	HP:0012523	Oral aversion	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0100738	HP:0012523	Oral aversion	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0100738	HP:0030842	Choking episodes	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0100738	HP:0002591	Polyphagia	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0002591	Polyphagia	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0100738	HP:0002591	Polyphagia	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0100738	HP:0002591	Polyphagia	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0100738	HP:0002591	Polyphagia	1	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:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0002591	Polyphagia	1	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:0100738	HP:0002591	Polyphagia	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:0100738	HP:0100739	Bulimia	1	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:0100738	HP:0012523	Oral aversion	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0100738	HP:0012523	Oral aversion	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0100738	HP:0002591	Polyphagia	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0100738	HP:0030842	Choking episodes	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0100738	HP:0002591	Polyphagia	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0100738	HP:0002591	Polyphagia	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100738	HP:0002591	Polyphagia	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0100738	HP:0030842	Choking episodes	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0100738	HP:0002591	Polyphagia	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		7
HP:0100738	HP:0030842	Choking episodes	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100738	HP:0025062	Geophagia	2	CL E G H

Genes (116) :ABCC8 ACAT1 ADCY3 ADNP AGPAT2 AGRN ALMS1 ARID1A ARID1B ARID2 ASH1L ATP10A BBS9 BRAF BSCL2 CACNA1A CASZ1 CDK13 CHAT CHD8 CLCNKB COL13A1 CTNNB1 DHPS DPF2 DPYD ELP2 EZH2 GABRD GNAS GPR101 GRB10 GRN HERC2 HNF1A HSPG2 HTT IFT74 IL6 IPW ITPR3 KCNAB2 KCNJ10 KCNJ11 LARP7 LEP LEPR LUZP1 MAGEL2 MAN1B1 MAPT MBD5 MC4R MEIS2 MEN1 MKRN3 MKRN3-AS1 MMP23B MN1 MYO9A MYT1L NDN NEXMIF NKX2-1 NPAP1 NTRK2 OCA2 PACS1 PCDH19 PCSK1 PDPN PLA2G6 POMC PRDM16 PREPL PRKCZ PSEN1 PTPN22 PWAR1 PWRN1 RERE SATB2 SCN4A SETD2 SH2B1 SIM1 SKI SLC12A3 SLC18A3 SLC25A1 SLC25A13 SLC2A3 SLC3A1 SLC5A2 SLC5A7 SLC7A7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX4 SPEN SYNGAP1 SYT2 UBE3A UBE4B UCP2 VAMP1 YY1 ZNF699

Diseases (83) :ORPHA:276575 ORPHA:134 OMIM:617885 ORPHA:404448 OMIM:608594 ORPHA:98914 ORPHA:64 ORPHA:1465 OMIM:617796 ORPHA:411515 OMIM:615986 ORPHA:54595 OMIM:269700 ORPHA:98758 ORPHA:1606 OMIM:617360 OMIM:615032 ORPHA:358 OMIM:618480 ORPHA:293948 OMIM:617270 OMIM:277590 ORPHA:79443 ORPHA:79444 OMIM:300942 ORPHA:96182 OMIM:607485 OMIM:176270 OMIM:222100 ORPHA:324575 ORPHA:399 OMIM:617119 ORPHA:199343 OMIM:612780 ORPHA:276580 ORPHA:319671 OMIM:614962 ORPHA:66628 OMIM:614963 ORPHA:179494 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 ORPHA:397941 OMIM:600274 OMIM:172700 ORPHA:228402 OMIM:156200 OMIM:618406 ORPHA:71529 OMIM:600987 ORPHA:97279 OMIM:618774 OMIM:616521 OMIM:300912 ORPHA:209905 OMIM:613886 ORPHA:98794 ORPHA:329224 ORPHA:101039 ORPHA:71528 ORPHA:35069 ORPHA:71526 OMIM:609734 ORPHA:163690 ORPHA:251028 ORPHA:99734 OMIM:616831 ORPHA:329249 ORPHA:171829 ORPHA:369873 ORPHA:398079 OMIM:263800 ORPHA:247585 OMIM:233100 ORPHA:470 ORPHA:544254 ORPHA:411511 ORPHA:276556 OMIM:619488

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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