Orphanet ID	Orphanet name	associated HPO phenotypes	# genes derived from Orphanet	genes derived from Orphanet	# genes derived from Orphanet associated by PhenPath	genes derived from Orphanet associated by PhenPath
2965	Prolactinoma	HP:0008240,HP:0002615,HP:0000508,HP:0000938,HP:0000939,HP:0008245,HP:0002920,HP:0001117,HP:0000044,HP:0011748,HP:0012246,HP:0002315,HP:0000141,HP:0003388,HP:0000026,HP:0030018,HP:0000618,HP:0006897,HP:0000651,HP:0000845,HP:0000868,HP:0000771,HP:0100829,HP:0002013,HP:0007942,HP:0030016,HP:0007011,HP:0000823,HP:0011357,HP:0000802,HP:0012041,HP:0030521,HP:0000529,HP:0000980,HP:0001250,HP:0011735,HP:0002321,HP:0000134,HP:0012378	3	CDH23,MEN1,AIP	2	MEN1,AIP
231242	Hemoglobin C-beta-thalassemia syndrome	HP:0001744,HP:0011902,HP:0001935	1	HBB	1	HBB
220393	Diffuse cutaneous systemic sclerosis	HP:0100958,HP:0002206,HP:0100520,HP:0002024,HP:0002020,HP:0030142,HP:0100735,HP:0002960,HP:0001371,HP:0100585,HP:0002017,HP:0000083,HP:0000217,HP:0002829,HP:0002092,HP:0002094,HP:0000670,HP:0001635,HP:0002015,HP:0030016,HP:0002113,HP:0200042,HP:0002797,HP:0001324,HP:0001369	5	CTGF,HLA-DRB1,IRF5,CCR6,CAV1	2	HLA-DRB1,CAV1
231249	Hemoglobin E-beta-thalassemia syndrome	HP:0001903,HP:0003281,HP:0011902,HP:0002721	1	HBB	1	HBB
1772	45,X/46,XY mixed gonadal dysgenesis	HP:0002442,HP:0000039,HP:0010464,HP:0001087,HP:0000368,HP:0000150,HP:0000403,HP:0012741,HP:0000286,HP:0002164,HP:0000767,HP:0002162,HP:0000365,HP:0000465,HP:0000837,HP:0001649,HP:0002967,HP:0100779,HP:0010743,HP:0000048,HP:0000085,HP:0008689,HP:0001680,HP:0003251,HP:0000041,HP:0008968,HP:0000033,HP:0000218,HP:0012887,HP:0004322,HP:0000061,HP:0000027,HP:0030079,HP:0000771,HP:0000639,HP:0001822,HP:0001647,HP:0000823,HP:0000821,HP:0001657,HP:0000729,HP:0006610,HP:0012861,HP:0010044,HP:0000808,HP:0001256,HP:0040171,HP:0001513,HP:0000505,HP:0000054,HP:0000347,HP:0002750,HP:0002650	1	SRY	0	
2151	Hirschsprung disease-ganglioneuroblastoma syndrome	HP:0000975,HP:0001657,HP:0006747,HP:0002251,HP:0011675,HP:0001250,HP:0000615	1	PHOX2B	1	PHOX2B
178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0010628,HP:0011342,HP:0000365,HP:0002516,HP:0000256,HP:0000248,HP:0002315,HP:0002684,HP:0001363,HP:0000348,HP:0000316,HP:0011001,HP:0000337,HP:0000505,HP:0012802,HP:0000648	1	LRP5	1	LRP5
284979	Neonatal Marfan syndrome	HP:0001083,HP:0002631,HP:0003116,HP:0001181,HP:0000268,HP:0100693,HP:0000592,HP:0004970,HP:0000768,HP:0001704,HP:0030148,HP:0005180,HP:0000973,HP:0001265,HP:0001371,HP:0000369,HP:0000494,HP:0011003,HP:0000490,HP:0002643,HP:0002705,HP:0008124,HP:0012418,HP:0002097,HP:0012771,HP:0011968,HP:0009901,HP:0001634,HP:0001713,HP:0100625,HP:0001653,HP:0008734,HP:0001166,HP:0010511,HP:0001270,HP:0100578,HP:0001252,HP:0000485,HP:0000431,HP:0001382,HP:0000347,HP:0001518	1	FBN1	1	FBN1
93946	Hamel cerebro-palato-cardiac syndrome	HP:0000160,HP:0001166,HP:0000175,HP:0000378,HP:0000414,HP:0001263,HP:0004322,HP:0001631,HP:0000252,HP:0000431,HP:0000272,HP:0001249,HP:0000347,HP:0001522	1	PQBP1	1	PQBP1
93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0000158,HP:0011359,HP:0000378,HP:0004322,HP:0000411,HP:0000286,HP:0001631,HP:0000252,HP:0008404,HP:0002299,HP:0001250,HP:0000325,HP:0001264,HP:0000582,HP:0001249,HP:0000276,HP:0000275	1	PQBP1	1	PQBP1
226316	Genetic transient congenital hypothyroidism	HP:0012560,HP:0002925,HP:0000853,HP:0000851	1	DUOX2	0	
329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0000750,HP:0002591,HP:0004322,HP:0000842,HP:0000718,HP:0001513,HP:0008763	1	SH2B1	0	
352723	Attenuated Chédiak-Higashi syndrome	HP:0002311,HP:0007513,HP:0000978,HP:0002205,HP:0002071,HP:0001107,HP:0009830,HP:0001928,HP:0001276,HP:0000421,HP:0200042,HP:0100022,HP:0001249,HP:0002721,HP:0000225	1	LYST	1	LYST
1956	Erythromelalgia	HP:0002045,HP:0010783,HP:0002633,HP:0002205,HP:0009830,HP:0001909,HP:0001872,HP:0000989	1	SCN9A	1	SCN9A
99872	Hashimoto-Pritzker syndrome	HP:0200036,HP:0200034,HP:0100730,HP:0009719,HP:0002797,HP:0000488,HP:0000639	1	BRAF	0	
289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0002615,HP:0030369,HP:0001998,HP:0000033,HP:0000151,HP:0000037,HP:0008187,HP:0001622,HP:0003154,HP:0000939,HP:0008232,HP:0000835,HP:0012854,HP:0011106,HP:0100779,HP:0011969,HP:0007574,HP:0030349,HP:0000127,HP:0012598,HP:0012245,HP:0002750,HP:0001508,HP:0000028,HP:0010789,HP:0004319,HP:0008163,HP:0011968,HP:0002153,HP:0000144,HP:0003107,HP:0001944,HP:0008073,HP:0000771,HP:0000848,HP:0002013,HP:0000823,HP:0008730,HP:0001941,HP:0010512,HP:0008734,HP:0011749,HP:0001274,HP:0012605,HP:0002902,HP:0008665	1	CYP11A1	1	CYP11A1
168829	Primary peritoneal carcinoma	HP:0002664,HP:0002586,HP:0002019,HP:0003270,HP:0002027,HP:0002017	1	BRCA1	0	
99971	Well-differentiated liposarcoma	HP:0002579,HP:0001482,HP:0012211	3	CDK4,MDM2,HMGA2	0	
85410	Oligoarticular juvenile idiopathic arthritis	HP:0003565,HP:0011227,HP:0001094,HP:0003493,HP:0005681,HP:0002829,HP:0001386	7	PTPN22,IL2RA,IL2RB,STAT4,ANKRD55,CD247,PTPN2	1	PTPN22
2907	Hereditary acrokeratotic poikiloderma, Weary type	HP:0008391,HP:0000365,HP:0000262,HP:0005692,HP:0004322,HP:0003272,HP:0010296,HP:0001810,HP:0002860,HP:0001053,HP:0007759,HP:0000972,HP:0200034,HP:0200039,HP:0011024,HP:0100587,HP:0100585,HP:0000230,HP:0007400,HP:0000217,HP:0000211,HP:0001096,HP:0006740,HP:0000795,HP:0010807,HP:0000160,HP:0008066,HP:0010783,HP:0008064,HP:0002745,HP:0000656,HP:0000772,HP:0000963,HP:0000964,HP:0001163,HP:0200042,HP:0100490,HP:0000091,HP:0006101,HP:0001025,HP:0000225,HP:0006323,HP:0100669	1	FERMT1	1	FERMT1
2908	Kindler syndrome	HP:0000682,HP:0000262,HP:0000509,HP:0002583,HP:0100825,HP:0001741,HP:0002043,HP:0000704,HP:0100633,HP:0001581,HP:0002860,HP:0001056,HP:0012227,HP:0000992,HP:0000230,HP:0007957,HP:0001602,HP:0008066,HP:0010783,HP:0008065,HP:0004378,HP:0008388,HP:0000656,HP:0006323,HP:0001903,HP:0100517,HP:0000670,HP:0002015,HP:0010044,HP:0010047,HP:0100490,HP:0001000,HP:0006101,HP:0000987,HP:0000982,HP:0001029,HP:0000772	1	FERMT1	1	FERMT1
703	Bullous pemphigoid	HP:0003765,HP:0012733,HP:0008066,HP:0010783,HP:0002960,HP:0002719,HP:0000819,HP:0001025,HP:0001824,HP:0000964	2	HLA-DRB1,HLA-DQB1	2	HLA-DRB1,HLA-DQB1
85198	Dysspondyloenchondromatosis	HP:0002758,HP:0003037,HP:0002750,HP:0004322,HP:0002991,HP:0005868,HP:0100777,HP:0012221,HP:0001373,HP:0002514,HP:0005701,HP:0001249,HP:0002761,HP:0002751,HP:0004039,HP:0000926,HP:0200041,HP:0100559,HP:0002857,HP:0002879,HP:0002657,HP:0003422	1	COL2A1	1	COL2A1
251066	8p11.2 deletion syndrome	HP:0001263,HP:0004322,HP:0000286,HP:0001744,HP:0000960,HP:0000581,HP:0008572,HP:0000582,HP:0001762,HP:0000639,HP:0001878,HP:0001643,HP:0000458,HP:0004444,HP:0005280,HP:0004467,HP:0000218,HP:0000316,HP:0000556,HP:0001249,HP:0000028,HP:0000252,HP:0011968,HP:0000027,HP:0001631,HP:0001634,HP:0000864,HP:0000612,HP:0005815,HP:0008736,HP:0000044,HP:0000482,HP:0001250,HP:0000347	1	ANK1	1	ANK1
85408	Rheumatoid factor-negative juvenile idiopathic arthritis	HP:0003565,HP:0011227,HP:0005681,HP:0000689,HP:0003493,HP:0005764,HP:0002186,HP:0001373,HP:0001376,HP:0002829,HP:0001386	7	PTPN22,IL2RA,IL2RB,STAT4,ANKRD55,CD247,PTPN2	1	PTPN22
91347	TSH-secreting pituitary adenoma	HP:0007942,HP:0000529,HP:0002615,HP:0000508,HP:0004308,HP:0012505,HP:0008153,HP:0000853,HP:0000938,HP:0000939,HP:0000870,HP:0000975,HP:0011782,HP:0000837,HP:0001337,HP:0002900,HP:0000789,HP:0002920,HP:0002925,HP:0001117,HP:0000044,HP:0003388,HP:0012246,HP:0002315,HP:0000140,HP:0001962,HP:0011735,HP:0000026,HP:0030018,HP:0000618,HP:0006897,HP:0000651,HP:0001635,HP:0000868,HP:0000771,HP:0002013,HP:0001824,HP:0007011,HP:0000822,HP:0000823,HP:0011357,HP:0000802,HP:0005115,HP:0008240,HP:0012378,HP:0008247,HP:0030521,HP:0030588,HP:0000980,HP:0001250,HP:0011748,HP:0002321,HP:0000134,HP:0012041,HP:0001698,HP:0000845	1	CDH23	0	
280794	Pseudoxanthomatous diffuse cutaneous mastocytosis	HP:0008066,HP:0200151	1	KIT	0	
293948	1p21.3 microdeletion syndrome	HP:0000293,HP:0000504,HP:0000742,HP:0000154,HP:0000729,HP:0000582,HP:0100738,HP:0001263,HP:0000490,HP:0400004,HP:0100962,HP:0000256,HP:0000750,HP:0000718,HP:0000455,HP:0001256,HP:0003196,HP:0000483,HP:0001513,HP:0000545,HP:0001382,HP:0000347	1	DPYD	1	DPYD
261295	20p12.3 microdeletion syndrome	HP:0004322,HP:0000286,HP:0011304,HP:0000768,HP:0008551,HP:0010059,HP:0001263,HP:0001716,HP:0000494,HP:0000316,HP:0000272,HP:0000160,HP:0000256,HP:0000391,HP:0001631,HP:0000431,HP:0002119,HP:0000293,HP:0005280,HP:0001252,HP:0001250,HP:0000343,HP:0000327	1	BMP2	1	BMP2
444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0002716,HP:0011343,HP:0001890,HP:0001297,HP:0001269,HP:0012115,HP:0000403,HP:0001973,HP:0001888,HP:0001744,HP:0002725,HP:0011947	1	TPP2	0	
324575	Hyperinsulinism due to HNF1A deficiency	HP:0001998,HP:0002240,HP:0000975,HP:0001520,HP:0001337,HP:0001254,HP:0001319,HP:0004359,HP:0001249,HP:0004510,HP:0001985,HP:0003162,HP:0002013,HP:0002014,HP:0000713,HP:0000825,HP:0001649,HP:0002329,HP:0002910,HP:0000980,HP:0001250,HP:0002344,HP:0012378,HP:0001259	1	HNF1A	0	
95496	Pituitary stalk interruption syndrome	HP:0000823,HP:0000028,HP:0000821,HP:0008736,HP:0100842,HP:0001522,HP:0004322,HP:0001263,HP:0011755,HP:0001943,HP:0001250,HP:0001508,HP:0000835,HP:0001249,HP:0000786,HP:0000873	7	LHX4,ROBO1,WDR11,PROKR2,HESX1,CDON,GPR161	5	HESX1,WDR11,LHX4,PROKR2,CDON
435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome	HP:0002758,HP:0001156,HP:0009778,HP:0007281,HP:0011800	1	ACAN	1	ACAN
251071	8p23.1 microdeletion syndrome	HP:0002465,HP:0000293,HP:0001182,HP:0004322,HP:0000286,HP:0001669,HP:0001639,HP:0011304,HP:0008572,HP:0000582,HP:0001763,HP:0001643,HP:0010059,HP:0001263,HP:0000369,HP:0000494,HP:0000233,HP:0000218,HP:0000490,HP:0004422,HP:0000047,HP:0000028,HP:0000252,HP:0004415,HP:0000776,HP:0000431,HP:0001513,HP:0001636,HP:0000470,HP:0100625,HP:0009623,HP:0001824,HP:0000426,HP:0006610,HP:0004383,HP:0001679,HP:0001256,HP:0003196,HP:0000348,HP:0001511,HP:0001250,HP:0007018,HP:0006695,HP:0000347,HP:0000486	1	GATA4	1	GATA4
314652	Variant ABeta2M amyloidosis	HP:0002579,HP:0004926,HP:0005341,HP:0002607,HP:0001824,HP:0002024,HP:0001097,HP:0002028,HP:0002254,HP:0002271,HP:0000217,HP:0012450,HP:0002239,HP:0002321,HP:0007267	1	B2M	0	
1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0000407,HP:0009830,HP:0000590,HP:0011342,HP:0001644,HP:0001268,HP:0001288,HP:0001350,HP:0002373,HP:0001012,HP:0009126,HP:0002094,HP:0002151,HP:0003457,HP:0012514,HP:0100749,HP:0003200,HP:0001635,HP:0001639,HP:0003326,HP:0000822,HP:0001324,HP:0012378,HP:0001347,HP:0001251,HP:0003542,HP:0001298,HP:0003546	1	MT-TK	1	MT-TK
3162	Sézary syndrome	HP:0002716,HP:0001999,HP:0002103,HP:0009830,HP:0001744,HP:0100758,HP:0002240,HP:0000958,HP:0008069,HP:0010701,HP:0007400,HP:0001019,HP:0002721,HP:0012192,HP:0003202,HP:0000969,HP:0000656,HP:0001596,HP:0100725,HP:0000982,HP:0008404,HP:0000989,HP:0001337	3	CTLA4,CD28,TNFRSF1B	1	CTLA4
1879	Melorheostosis with osteopoikilosis	HP:0000822,HP:0010739,HP:0003103,HP:0001482,HP:0001012,HP:0010001	1	LEMD3	0	
436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	HP:0004322,HP:0001511,HP:0008734	1	CDKN1C	1	CDKN1C
75857	6q terminal deletion syndrome	HP:0030084,HP:0001999,HP:0012745,HP:0000268,HP:0002066,HP:0002553,HP:0001741,HP:0012471,HP:0001263,HP:0007165,HP:0000639,HP:0002126,HP:0001388,HP:0011220,HP:0001310,HP:0030048,HP:0005487,HP:0000316,HP:0000368,HP:0006712,HP:0000289,HP:0008947,HP:0001884,HP:0002705,HP:0000486,HP:0002079,HP:0000256,HP:0000750,HP:0001357,HP:0000294,HP:0001513,HP:0000771,HP:0000470,HP:0000962,HP:0001822,HP:0006610,HP:0002521,HP:0001321,HP:0001256,HP:0001508,HP:0001250,HP:0000047,HP:0000347,HP:0000540,HP:0002650	1	ERMARD	1	ERMARD
505	Graham Little-Piccardi-Lassueur syndrome	HP:0002209,HP:0007468,HP:0002215,HP:0100725,HP:0002225,HP:0001596,HP:0000989	1	HLA-DRA	0	
79406	Late-onset junctional epidermolysis bullosa	HP:0008066,HP:0007410,HP:0001075,HP:0008404,HP:0007455	1	COL17A1	1	COL17A1
89842	Recessive dystrophic epidermolysis bullosa, generalized intermediate	HP:0010296,HP:0008404,HP:0002043,HP:0200097,HP:0002860,HP:0200037,HP:0001056,HP:0001057,HP:0001075,HP:0000572,HP:0001030,HP:0001508,HP:0000160,HP:0004057,HP:0011968,HP:0004378,HP:0000670,HP:0002019,HP:0001903,HP:0001596,HP:0002015,HP:0000823,HP:0200020	1	COL7A1	1	COL7A1
89841	Centripetalis recessive dystrophic epidermolysis bullosa	HP:0008404,HP:0001030,HP:0001075,HP:0200037,HP:0001056	1	COL7A1	1	COL7A1
228410	Polyvalvular heart disease syndrome	HP:0000369,HP:0000508,HP:0002750,HP:0004322,HP:0000268,HP:0000448,HP:0000951,HP:0005692,HP:0011675,HP:0000218,HP:0000337,HP:0001249,HP:0000276,HP:0000377,HP:0005180,HP:0000678,HP:0001642,HP:0001634,HP:0001650,HP:0000322,HP:0000347,HP:0001699	1	TAB2	1	TAB2
228415	5q35 microduplication syndrome	HP:0000252,HP:0001328,HP:0002750,HP:0004322,HP:0001250,HP:0000545,HP:0000708,HP:0001249	1	NSD1	1	NSD1
352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0002714,HP:0004209,HP:0001182,HP:0000248,HP:0000664,HP:0000286,HP:0002047,HP:0000851,HP:0002120,HP:0002123,HP:0002265,HP:0011228,HP:0001263,HP:0009891,HP:0000311,HP:0000219,HP:0000316,HP:0000252,HP:0002079,HP:0010864,HP:0000431,HP:0007052,HP:0007642,HP:0001321,HP:0001252,HP:0001513,HP:0000341	1	TRAPPC9	1	TRAPPC9
79455	Cutaneous mastocytoma	HP:0002315,HP:0008066,HP:0001072,HP:0001025,HP:0001482,HP:0001034,HP:0200151,HP:0002027,HP:0000989	1	KIT	1	KIT
209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0004943,HP:0008372,HP:0004929,HP:0001403,HP:0002155,HP:0006573,HP:0012115,HP:0003124,HP:0001513,HP:0001396,HP:0100514,HP:0011980,HP:0012397,HP:0003141	1	CYP7A1	0	
966	Hypertrichosis-acromegaloid facial appearance syndrome	HP:0100540,HP:0002230,HP:0000280,HP:0000221,HP:0005692,HP:0000414,HP:0001155,HP:0010285,HP:0000232,HP:0012471,HP:0000581,HP:0001249,HP:0000212	1	ABCC9	1	ABCC9
52416	Mantle cell lymphoma	HP:0002716,HP:0012191,HP:0011024,HP:0012378,HP:0001945,HP:0001744,HP:0005561,HP:0002039,HP:0001824	3	CCND1,ATM,IGH	2	CCND1,ATM
79474	Atypical Werner syndrome	HP:0005978,HP:0004361,HP:0040019,HP:0009726,HP:0004322,HP:0000035,HP:0000963,HP:0001838,HP:0000934,HP:0001608,HP:0100526,HP:0003738,HP:0000444,HP:0000939,HP:0008981,HP:0001763,HP:0100031,HP:0000831,HP:0008283,HP:0100615,HP:0009771,HP:0100679,HP:0004950,HP:0005109,HP:0001601,HP:0008069,HP:0000144,HP:0009064,HP:0004054,HP:0100585,HP:0000233,HP:0010721,HP:0004279,HP:0001376,HP:0001397,HP:0001596,HP:0007618,HP:0001508,HP:0100649,HP:0003777,HP:0100840,HP:0002216,HP:0000519,HP:0002155,HP:0002211,HP:0002669,HP:0003202,HP:0100659,HP:0001634,HP:0001635,HP:0000869,HP:0000905,HP:0000962,HP:0001808,HP:0001015,HP:0008419,HP:0000822,HP:0000823,HP:0001650,HP:0001677,HP:0200042,HP:0002858,HP:0100833,HP:0007509,HP:0004380,HP:0005177,HP:0008209,HP:0007703,HP:0005328,HP:0100578,HP:0003074,HP:0000275,HP:0003076,HP:0004414,HP:0002231,HP:0000546,HP:0000347,HP:0000135,HP:0001385,HP:0100013	1	LMNA	1	LMNA
99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0000158,HP:0000821,HP:0006579,HP:0001537,HP:0011968,HP:0001263,HP:0001290,HP:0002019,HP:0001510,HP:0000280,HP:0002360,HP:0004491	1	TRHR	0	
99852	Ravine syndrome	HP:0000496,HP:0002448,HP:0001251,HP:0006958,HP:0001257,HP:0000932,HP:0001508,HP:0002104,HP:0002039,HP:0007366,HP:0001600,HP:0002134	1	SLC7A2-IT1	0	
171829	6q16 deletion syndrome	HP:0001773,HP:0004209,HP:0000400,HP:0000248,HP:0004322,HP:0000286,HP:0030680,HP:0000692,HP:0000460,HP:0000369,HP:0001263,HP:0000311,HP:0000218,HP:0004279,HP:0002353,HP:0000252,HP:0000316,HP:0000256,HP:0000750,HP:0002591,HP:0000414,HP:0001513,HP:0000293,HP:0000639,HP:0000717,HP:0001182,HP:0000426,HP:0001252,HP:0000486,HP:0000545,HP:0000308	1	SIM1	1	SIM1
57782	Mazabraud syndrome	HP:0010734,HP:0002653,HP:0002757,HP:0002652	1	GNAS	0	
284804	Ocular albinism	HP:0000505,HP:0000662,HP:0008059,HP:0000483,HP:0001107,HP:0000486,HP:0000613,HP:0000639,HP:0000616	1	AP3D1	0	
158673	Acral dystrophic epidermolysis bullosa	HP:0001075,HP:0008404,HP:0001056	1	COL7A1	1	COL7A1
98849	Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	HP:0002863,HP:0012539,HP:0005506,HP:0100495,HP:0004808,HP:0001880,HP:0012325	1	KIT	1	KIT
158676	Dominant dystrophic epidermolysis bullosa, nails only	HP:0001802,HP:0001810	1	COL7A1	0	
137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0100764,HP:0100615,HP:0100560,HP:0007392,HP:0100761,HP:0100559,HP:0000256,HP:0004374,HP:0002757,HP:0100031,HP:0200034,HP:0001482,HP:0004349,HP:0001883,HP:0001635,HP:0100026,HP:0005293,HP:0100013	1	PTEN	1	PTEN
63260	Craniorachischisis	HP:0010497,HP:0001539,HP:0005857,HP:0000776,HP:0002323,HP:0010309,HP:0002475,HP:0002023	1	DACT1	1	DACT1
1053	Vein of Galen aneurysmal malformation	HP:0100784,HP:0100659,HP:0002617	1	EPHB4	0	
79254	Classic phenylketonuria	HP:0002301,HP:0100716,HP:0001337,HP:0002333,HP:0001263,HP:0002514,HP:0001010,HP:0002354,HP:0000964,HP:0000252,HP:0010864,HP:0000518,HP:0007018,HP:0000716,HP:0000717,HP:0002017,HP:0100679,HP:0004923,HP:0010550,HP:0001276,HP:0001347,HP:0001510,HP:0001250,HP:0005599	1	PAH	1	PAH
1617	2q24 microdeletion syndrome	HP:0001188,HP:0000175,HP:0000729,HP:0011344,HP:0010078,HP:0001319,HP:0000494,HP:0000316,HP:0000368,HP:0001249,HP:0001508,HP:0000274,HP:0000518,HP:0100807,HP:0000470,HP:0001770,HP:0000589,HP:0002871,HP:0100490,HP:0000190,HP:0001510,HP:0001250,HP:0000568,HP:0001518,HP:0000525,HP:0000322	1	TBR1	0	
440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0002983,HP:0000162,HP:0002980,HP:0003097,HP:0000947,HP:0000175,HP:0001156,HP:0002781,HP:0000407,HP:0008905,HP:0000774,HP:0001622,HP:0000882,HP:0000520,HP:0000347,HP:0002007,HP:0011800,HP:0011003	1	COL11A1	1	COL11A1
3437	Vogt-Koyanagi-Harada disease	HP:0000534,HP:0100543,HP:0001045,HP:0001053,HP:0000505,HP:0002209,HP:0002216,HP:0000518,HP:0004322,HP:0000407,HP:0000501,HP:0002290,HP:0000541,HP:0000499	2	PTPN22,FAS	0	
276556	Hyperinsulinism due to UCP2 deficiency	HP:0000975,HP:0002240,HP:0004510,HP:0001985,HP:0001520,HP:0001998,HP:0008240,HP:0000825,HP:0001263,HP:0001254,HP:0002014,HP:0001649,HP:0002329,HP:0000980,HP:0001250,HP:0002344,HP:0002013,HP:0000713,HP:0004359,HP:0100503,HP:0001259	1	UCP2	0	
97279	Insulinoma	HP:0003401,HP:0000364,HP:0004324,HP:0002044,HP:0100631,HP:0100634,HP:0001958,HP:0000504,HP:0000975,HP:0001337,HP:0012051,HP:0001962,HP:0002591,HP:0001988,HP:0008283,HP:0002494,HP:0000739,HP:0003324,HP:0007159,HP:0006476,HP:0008200,HP:0100785,HP:0006767,HP:0010534,HP:0000825,HP:0001254,HP:0001250,HP:0010832,HP:0012378,HP:0001259	1	MEN1	1	MEN1
83469	Desmoplastic small round cell tumor	HP:0010788,HP:0100615,HP:0100526,HP:0002585,HP:0100721,HP:0002894,HP:0004326,HP:0001541,HP:0100006,HP:0003270,HP:0001903,HP:0002595,HP:0002027,HP:0002240,HP:0002017,HP:0100242	2	WT1,EWSR1	1	WT1
36412	Hypocomplementemic urticarial vasculitis	HP:0002716,HP:0012735,HP:0002105,HP:0000509,HP:0002202,HP:0002718,HP:0000407,HP:0001744,HP:0000763,HP:0002027,HP:0002240,HP:0001315,HP:0001287,HP:0002960,HP:0100326,HP:0001373,HP:0000083,HP:0100021,HP:0007400,HP:0000554,HP:0001541,HP:0011944,HP:0002091,HP:0004374,HP:0002665,HP:0000790,HP:0002094,HP:0002097,HP:0100820,HP:0100534,HP:0003326,HP:0002014,HP:0002017,HP:0001654,HP:0100665,HP:0000093,HP:0006824,HP:0006536,HP:0001250,HP:0001251,HP:0004431,HP:0001369,HP:0000989,HP:0000988,HP:0001698	1	DNASE1L3	1	DNASE1L3
83465	Narcolepsy type 2	HP:0100785,HP:0000738,HP:0001262	4	HCRT,HLA-DQB1,HLA-DRB1,ZNF365	2	HCRT,HLA-DQB1
363618	LMNA-related cardiocutaneous progeria syndrome	HP:0002671,HP:0002616,HP:0008070,HP:0002223,HP:0100678,HP:0100324,HP:0006739,HP:0011040,HP:0002097,HP:0002216,HP:0004414,HP:0002155,HP:0030445,HP:0100578,HP:0001635,HP:0002170,HP:0012397,HP:0001714,HP:0000822,HP:0001653,HP:0001650,HP:0004382,HP:0004929,HP:0003124,HP:0000561,HP:0006766,HP:0002289	1	LMNA	1	LMNA
220402	Limited cutaneous systemic sclerosis	HP:0009473,HP:0001053,HP:0200042,HP:0100958,HP:0002020,HP:0002960,HP:0002206,HP:0008366,HP:0100579,HP:0100585,HP:0002092,HP:0002015,HP:0002017	6	KIAA0319L,IRF5,HLA-DRB1,CTGF,CCR6,CAV1	1	CAV1
263455	Hyperinsulinism due to HNF4A deficiency	HP:0001994,HP:0001998,HP:0003076,HP:0003155,HP:0002240,HP:0000975,HP:0006568,HP:0001649,HP:0001337,HP:0001254,HP:0001319,HP:0004359,HP:0001249,HP:0001520,HP:0004510,HP:0001985,HP:0003162,HP:0002013,HP:0002014,HP:0000713,HP:0000825,HP:0000093,HP:0005979,HP:0004912,HP:0002329,HP:0002910,HP:0000980,HP:0001250,HP:0002344,HP:0012378,HP:0001259	1	HNF4A	1	HNF4A
436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0000510,HP:0200034,HP:0007843,HP:0007522,HP:0007980,HP:0000486,HP:0001582,HP:0000662,HP:0000587	1	GGCX	0	
77301	Monosomy 9q22.3	HP:0000243,HP:0002671,HP:0000684,HP:0000369,HP:0002308,HP:0000286,HP:0000767,HP:0010603,HP:0003196,HP:0001520,HP:0005462,HP:0001263,HP:0005692,HP:0000494,HP:0005616,HP:0002808,HP:0001249,HP:0000752,HP:0000238,HP:0002667,HP:0000160,HP:0000486,HP:0000256,HP:0011968,HP:0000518,HP:0002885,HP:0011330,HP:0000343,HP:0000772,HP:0002119,HP:0100276,HP:0000470,HP:0000098,HP:0002859,HP:0001537,HP:0010618,HP:0009894,HP:0010617,HP:0001252,HP:0001250,HP:0010442,HP:0000488,HP:0000202,HP:0000568	1	PTCH1	1	PTCH1
276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0001176,HP:0004322,HP:0000316,HP:0030680,HP:0001182,HP:0001252,HP:0000674,HP:0001513,HP:0000768,HP:0000677,HP:0000767,HP:0000494,HP:0007302,HP:0000232,HP:0001250,HP:0000445,HP:0002808,HP:0000709,HP:0002007,HP:0002650	1	RPS6KA3	1	RPS6KA3
261250	16q24.3 microdeletion syndrome	HP:0005518,HP:0000365,HP:0000389,HP:0000384,HP:0000154,HP:0002553,HP:0000609,HP:0001873,HP:0000463,HP:0006315,HP:0002007,HP:0001629,HP:0000582,HP:0001644,HP:0009623,HP:0030048,HP:0000348,HP:0010720,HP:0000218,HP:0004422,HP:0000319,HP:0002808,HP:0000276,HP:0000028,HP:0000486,HP:0002079,HP:0012471,HP:0000750,HP:0011968,HP:0000411,HP:0000343,HP:0002119,HP:0007165,HP:0000639,HP:0000717,HP:0002015,HP:0000545,HP:0001653,HP:0000307,HP:0000483,HP:0001250,HP:0000325,HP:0000505,HP:0002342,HP:0000347,HP:0001385,HP:0002650	1	ANKRD11	1	ANKRD11
226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0000952,HP:0100842,HP:0011787,HP:0001537,HP:0011968,HP:0004322,HP:0001263,HP:0002019,HP:0000280,HP:0001249,HP:0001252,HP:0003270,HP:0002360,HP:0000864,HP:0000202,HP:0012378,HP:0000239	5	POU1F1,HESX1,LHX3,LHX4,PROP1	5	POU1F1,HESX1,LHX3,LHX4,PROP1
329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0001308,HP:0001288,HP:0003487,HP:0003445,HP:0002064,HP:0007289,HP:0003155,HP:0003324,HP:0001258,HP:0002395	1	VCP	1	VCP
238769	1q44 microdeletion syndrome	HP:0002069,HP:0000076,HP:0002566,HP:0005487,HP:0000384,HP:0000664,HP:0000286,HP:0000252,HP:0002263,HP:0000582,HP:0002007,HP:0000506,HP:0001263,HP:0000085,HP:0000233,HP:0000218,HP:0000316,HP:0004422,HP:0000319,HP:0000238,HP:0004322,HP:0010864,HP:0000750,HP:0002119,HP:0001671,HP:0007766,HP:0001274,HP:0000348,HP:0001252,HP:0000486,HP:0000347,HP:0002650	1	HNRNPU	0	
369873	Obesity due to SIM1 deficiency	HP:0001513,HP:0002459,HP:0002591,HP:0001263,HP:0000729,HP:0000842,HP:0007018,HP:0001952,HP:0002354,HP:0005307,HP:0100503	1	SIM1	1	SIM1
94063	12q14 microdeletion syndrome	HP:0000668,HP:0002714,HP:0004209,HP:0003396,HP:0002308,HP:0004322,HP:0000664,HP:0000426,HP:0000819,HP:0001743,HP:0001482,HP:0000445,HP:0002007,HP:0000953,HP:0001337,HP:0002566,HP:0001263,HP:0000085,HP:0000086,HP:0000233,HP:0000316,HP:0000490,HP:0000574,HP:0000089,HP:0001508,HP:0000252,HP:0000750,HP:0003202,HP:0005288,HP:0001511,HP:0010739,HP:0001328,HP:0001256,HP:0001252,HP:0000325,HP:0000347,HP:0002650	2	LEMD3,HMGA2	0	
97240	Zebra body myopathy	HP:0003391,HP:0003458,HP:0002460,HP:0001558,HP:0012899,HP:0003555,HP:0001263,HP:0001319,HP:0000467,HP:0003736,HP:0003236,HP:0003551,HP:0010628,HP:0003715,HP:0006785,HP:0000473,HP:0003327,HP:0003805,HP:0003798,HP:0003713,HP:0002515	1	ACTA1	1	ACTA1
280785	Bullous diffuse cutaneous mastocytosis	HP:0006543,HP:0008066,HP:0001025,HP:0005587,HP:0200151,HP:0000989,HP:0001019	1	KIT	1	KIT
261144	14q12 microdeletion syndrome	HP:0000158,HP:0000286,HP:0000581,HP:0002020,HP:0009738,HP:0100540,HP:0005487,HP:0000494,HP:0000232,HP:0002376,HP:0000319,HP:0002808,HP:0010804,HP:0000252,HP:0010864,HP:0011968,HP:0000414,HP:0000411,HP:0001252,HP:0003781,HP:0000733,HP:0005280,HP:0001274,HP:0001344,HP:0003196,HP:0000303,HP:0001510,HP:0001250,HP:0002650	1	FOXG1	1	FOXG1