Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200036	HP:0200036	Skin nodule	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0200036	HP:0200036	Skin nodule	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0200036	HP:0200036	Skin nodule	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0200036	HP:0200036	Skin nodule	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva		49
HP:0200036	HP:0200036	Skin nodule	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0200036	HP:0200036	Skin nodule	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0200036	HP:0200036	Skin nodule	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0200036	HP:0200036	Skin nodule	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0200036	HP:0200036	Skin nodule	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis		49
HP:0200036	HP:0200036	Skin nodule	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor		3179
HP:0200036	HP:0200036	Skin nodule	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0200036	HP:0200036	Skin nodule	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0200036	HP:0200036	Skin nodule	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0200036	HP:0200036	Skin nodule	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0200036	HP:0200036	Skin nodule	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0200036	HP:0200036	Skin nodule	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0200036	HP:0200036	Skin nodule	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0200036	HP:0200036	Skin nodule	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0200036	HP:0200036	Skin nodule	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0200036	HP:0200036	Skin nodule	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0200036	HP:0200036	Skin nodule	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0200036	HP:0200036	Skin nodule	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	1
HP:0200036	HP:0200036	Skin nodule	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	1
HP:0200036	HP:0200036	Skin nodule	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0200036	HP:0200036	Skin nodule	0	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum		276
HP:0200036	HP:0200036	Skin nodule	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0200036	HP:0200036	Skin nodule	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0200036	HP:0200036	Skin nodule	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0200036	HP:0200036	Skin nodule	0	CDK4 CL E G H	1019	1773	ORPHA:99971	Well-differentiated liposarcoma		145
HP:0200036	HP:0200036	Skin nodule	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0200036	HP:0200036	Skin nodule	0	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans		373
HP:0200036	HP:0200036	Skin nodule	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0200036	HP:0200036	Skin nodule	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0200036	HP:0200036	Skin nodule	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0200036	HP:0200036	Skin nodule	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0200036	HP:0200036	Skin nodule	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0200036	HP:0200036	Skin nodule	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0200036	HP:0200036	Skin nodule	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor		88
HP:0200036	HP:0200036	Skin nodule	0	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma		88
HP:0200036	HP:0200036	Skin nodule	0	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis		126
HP:0200036	HP:0200036	Skin nodule	0	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma		126
HP:0200036	HP:0200036	Skin nodule	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0200036	HP:0200036	Skin nodule	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0200036	HP:0200036	Skin nodule	0	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma
HP:0200036	HP:0200036	Skin nodule	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis		14
HP:0200036	HP:0200036	Skin nodule	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0200036	HP:0200036	Skin nodule	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0200036	HP:0200036	Skin nodule	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0200036	HP:0200036	Skin nodule	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0200036	HP:0200036	Skin nodule	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome		1361
HP:0200036	HP:0200036	Skin nodule	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0200036	HP:0200036	Skin nodule	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0200036	HP:0200036	Skin nodule	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0200036	HP:0200036	Skin nodule	0	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma		105
HP:0200036	HP:0200036	Skin nodule	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0200036	HP:0200036	Skin nodule	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0200036	HP:0200036	Skin nodule	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0200036	HP:0200036	Skin nodule	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0200036	HP:0200036	Skin nodule	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0200036	HP:0200036	Skin nodule	0	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040282 - Frequent	37
HP:0200036	HP:0200036	Skin nodule	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0200036	HP:0200036	Skin nodule	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive		101
HP:0200036	HP:0200036	Skin nodule	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia		101
HP:0200036	HP:0200036	Skin nodule	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0200036	HP:0200036	Skin nodule	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0200036	HP:0200036	Skin nodule	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0200036	HP:0200036	Skin nodule	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0200036	HP:0200036	Skin nodule	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0200036	HP:0200036	Skin nodule	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	2
HP:0200036	HP:0200036	Skin nodule	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0200036	HP:0200036	Skin nodule	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome		2
HP:0200036	HP:0200036	Skin nodule	0	HMGA2 CL E G H	8091	5009	ORPHA:99971	Well-differentiated liposarcoma		2
HP:0200036	HP:0200036	Skin nodule	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		25
HP:0200036	HP:0200036	Skin nodule	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0200036	HP:0200036	Skin nodule	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease		15
HP:0200036	HP:0200036	Skin nodule	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0200036	HP:0200036	Skin nodule	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease		29
HP:0200036	HP:0200036	Skin nodule	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0200036	HP:0200036	Skin nodule	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0200036	HP:0200036	Skin nodule	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	7
HP:0200036	HP:0200036	Skin nodule	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0200036	HP:0200036	Skin nodule	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0200036	HP:0200036	Skin nodule	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0200036	HP:0200036	Skin nodule	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0200036	HP:0200036	Skin nodule	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0200036	HP:0200036	Skin nodule	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A		229
HP:0200036	HP:0200036	Skin nodule	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0200036	HP:0200036	Skin nodule	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0200036	HP:0200036	Skin nodule	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0200036	HP:0200036	Skin nodule	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0200036	HP:0200036	Skin nodule	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0200036	HP:0200036	Skin nodule	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0200036	HP:0200036	Skin nodule	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0200036	HP:0200036	Skin nodule	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome		68
HP:0200036	HP:0200036	Skin nodule	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0200036	HP:0200036	Skin nodule	0	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis		68
HP:0200036	HP:0200036	Skin nodule	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0200036	HP:0200036	Skin nodule	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus		124
HP:0200036	HP:0200036	Skin nodule	0	MDM2 CL E G H	4193	6973	ORPHA:99971	Well-differentiated liposarcoma		1
HP:0200036	HP:0200036	Skin nodule	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0200036	HP:0200036	Skin nodule	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent	281
HP:0200036	HP:0200036	Skin nodule	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0200036	HP:0200036	Skin nodule	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0200036	HP:0200036	Skin nodule	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0200036	HP:0200036	Skin nodule	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0200036	HP:0200036	Skin nodule	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0200036	HP:0200036	Skin nodule	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0200036	HP:0200036	Skin nodule	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis		144
HP:0200036	HP:0200036	Skin nodule	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus		102
HP:0200036	HP:0200036	Skin nodule	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0200036	HP:0200036	Skin nodule	0	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0200036	HP:0200036	Skin nodule	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0200036	HP:0200036	Skin nodule	0	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans		9
HP:0200036	HP:0200036	Skin nodule	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis		28
HP:0200036	HP:0200036	Skin nodule	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0200036	HP:0200036	Skin nodule	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0200036	HP:0200036	Skin nodule	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0200036	HP:0200036	Skin nodule	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0200036	HP:0200036	Skin nodule	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0200036	HP:0200036	Skin nodule	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0200036	HP:0200036	Skin nodule	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0200036	HP:0200036	Skin nodule	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0200036	HP:0200036	Skin nodule	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease		948
HP:0200036	HP:0200036	Skin nodule	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0200036	HP:0200036	Skin nodule	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0200036	HP:0200036	Skin nodule	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease		58
HP:0200036	HP:0200036	Skin nodule	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0200036	HP:0200036	Skin nodule	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0200036	HP:0200036	Skin nodule	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0200036	HP:0200036	Skin nodule	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0200036	HP:0200036	Skin nodule	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0200036	HP:0200036	Skin nodule	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0200036	HP:0200036	Skin nodule	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0200036	HP:0200036	Skin nodule	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0200036	HP:0200036	Skin nodule	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0200036	HP:0200036	Skin nodule	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0200036	HP:0200036	Skin nodule	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0200036	HP:0200036	Skin nodule	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0200036	HP:0200036	Skin nodule	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus		78
HP:0200036	HP:0200036	Skin nodule	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0200036	HP:0200036	Skin nodule	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease		72
HP:0200036	HP:0200036	Skin nodule	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease		44
HP:0200036	HP:0200036	Skin nodule	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0200036	HP:0200036	Skin nodule	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0200036	HP:0200036	Skin nodule	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0200036	HP:0200036	Skin nodule	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0200036	HP:0200036	Skin nodule	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0200036	HP:0032217	Indurated nodule	1	CL E G H
HP:0200036	HP:0025554	Yellow nodule	1	CL E G H
HP:0200036	HP:0025529	Hyperpigmented nodule	1	CL E G H
HP:0200036	HP:0025103	Umbilicated nodule	1	CL E G H
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0200036	HP:0001482	Subcutaneous nodule	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0200036	HP:0001482	Subcutaneous nodule	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0200036	HP:0001482	Subcutaneous nodule	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0200036	HP:0001482	Subcutaneous nodule	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0200036	HP:0001482	Subcutaneous nodule	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0200036	HP:0001482	Subcutaneous nodule	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0200036	HP:0001482	Subcutaneous nodule	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040281 - Very frequent	49
HP:0200036	HP:0001482	Subcutaneous nodule	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent	3179
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0200036	HP:0001482	Subcutaneous nodule	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0200036	HP:0001482	Subcutaneous nodule	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0200036	HP:0001482	Subcutaneous nodule	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0200036	HP:0200016	Acrokeratosis	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis	.	86
HP:0200036	HP:0200016	Acrokeratosis	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent	86
HP:0200036	HP:0200016	Acrokeratosis	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0200036	HP:0001482	Subcutaneous nodule	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0200036	HP:0001482	Subcutaneous nodule	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0200036	HP:0001482	Subcutaneous nodule	1	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040281 - Very frequent	276
HP:0200036	HP:0001482	Subcutaneous nodule	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0200036	HP:0001482	Subcutaneous nodule	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0200036	HP:0001482	Subcutaneous nodule	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0200036	HP:0001482	Subcutaneous nodule	1	CDK4 CL E G H	1019	1773	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent	145
HP:0200036	HP:0001482	Subcutaneous nodule	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0200036	HP:0001482	Subcutaneous nodule	1	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent	373
HP:0200036	HP:0001482	Subcutaneous nodule	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0200036	HP:0001482	Subcutaneous nodule	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0200036	HP:0001482	Subcutaneous nodule	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0200036	HP:0001482	Subcutaneous nodule	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0200036	HP:0001482	Subcutaneous nodule	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0200036	HP:0001482	Subcutaneous nodule	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional	263
HP:0200036	HP:0001482	Subcutaneous nodule	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent	88
HP:0200036	HP:0001482	Subcutaneous nodule	1	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma		88
HP:0200036	HP:0001482	Subcutaneous nodule	1	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis	HP:0040281 - Very frequent	126
HP:0200036	HP:0001482	Subcutaneous nodule	1	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma	HP:0040281 - Very frequent	126
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0200036	HP:0001482	Subcutaneous nodule	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	2
HP:0200036	HP:0001482	Subcutaneous nodule	1	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040281 - Very frequent
HP:0200036	HP:0001482	Subcutaneous nodule	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent	14
HP:0200036	HP:0001482	Subcutaneous nodule	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0200036	HP:0001482	Subcutaneous nodule	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0200036	HP:0001482	Subcutaneous nodule	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	59
HP:0200036	HP:0001482	Subcutaneous nodule	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional	1361
HP:0200036	HP:0001482	Subcutaneous nodule	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0200036	HP:0001482	Subcutaneous nodule	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	172
HP:0200036	HP:0001482	Subcutaneous nodule	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0200036	HP:0001482	Subcutaneous nodule	1	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040281 - Very frequent	105
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0200036	HP:0001482	Subcutaneous nodule	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0200036	HP:0001482	Subcutaneous nodule	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0200036	HP:0025027	Osteoma cutis	1	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0200036	HP:0001482	Subcutaneous nodule	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040281 - Very frequent	101
HP:0200036	HP:0025027	Osteoma cutis	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0200036	HP:0025027	Osteoma cutis	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0200036	HP:0025027	Osteoma cutis	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0200036	HP:0001482	Subcutaneous nodule	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	4
HP:0200036	HP:0001482	Subcutaneous nodule	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0200036	HP:0001482	Subcutaneous nodule	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0200036	HP:0001482	Subcutaneous nodule	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0200036	HP:0001482	Subcutaneous nodule	1	HMGA2 CL E G H	8091	5009	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent	2
HP:0200036	HP:0001482	Subcutaneous nodule	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		25
HP:0200036	HP:0001482	Subcutaneous nodule	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent	15
HP:0200036	HP:0001482	Subcutaneous nodule	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040282 - Frequent	15
HP:0200036	HP:0001482	Subcutaneous nodule	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent	29
HP:0200036	HP:0001482	Subcutaneous nodule	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040282 - Frequent	29
HP:0200036	HP:0001482	Subcutaneous nodule	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0200036	HP:0001482	Subcutaneous nodule	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	60
HP:0200036	HP:0001482	Subcutaneous nodule	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0200036	HP:0001482	Subcutaneous nodule	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0200036	HP:0001482	Subcutaneous nodule	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0200036	HP:0001482	Subcutaneous nodule	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0200036	HP:0001482	Subcutaneous nodule	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0200036	HP:0001482	Subcutaneous nodule	1	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent	229
HP:0200036	HP:0001482	Subcutaneous nodule	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0200036	HP:0001482	Subcutaneous nodule	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0200036	HP:0001482	Subcutaneous nodule	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0200036	HP:0001482	Subcutaneous nodule	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	196
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0200036	HP:0001482	Subcutaneous nodule	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0200036	HP:0001482	Subcutaneous nodule	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent	68
HP:0200036	HP:0001482	Subcutaneous nodule	1	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040283 - Occasional	68
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0200036	HP:0001482	Subcutaneous nodule	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	124
HP:0200036	HP:0001482	Subcutaneous nodule	1	MDM2 CL E G H	4193	6973	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent	1
HP:0200036	HP:0001482	Subcutaneous nodule	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	281
HP:0200036	HP:0001482	Subcutaneous nodule	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0200036	HP:0001482	Subcutaneous nodule	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent	2
HP:0200036	HP:0001482	Subcutaneous nodule	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0200036	HP:0001482	Subcutaneous nodule	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent	64
HP:0200036	HP:0001482	Subcutaneous nodule	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0200036	HP:0001482	Subcutaneous nodule	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0200036	HP:0001482	Subcutaneous nodule	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent	144
HP:0200036	HP:0001482	Subcutaneous nodule	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	102
HP:0200036	HP:0001482	Subcutaneous nodule	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0200036	HP:0001482	Subcutaneous nodule	1	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent	9
HP:0200036	HP:0001482	Subcutaneous nodule	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent	28
HP:0200036	HP:0001482	Subcutaneous nodule	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0200036	HP:0001482	Subcutaneous nodule	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0200036	HP:0001482	Subcutaneous nodule	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0200036	HP:0001482	Subcutaneous nodule	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040282 - Frequent	948
HP:0200036	HP:0001482	Subcutaneous nodule	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0200036	HP:0200016	Acrokeratosis	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0200036	HP:0200016	Acrokeratosis	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent	948
HP:0200036	HP:0001482	Subcutaneous nodule	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0200036	HP:0001482	Subcutaneous nodule	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0200036	HP:0001482	Subcutaneous nodule	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040282 - Frequent	58
HP:0200036	HP:0001482	Subcutaneous nodule	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0200036	HP:0001482	Subcutaneous nodule	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0200036	HP:0001482	Subcutaneous nodule	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	124
HP:0200036	HP:0001482	Subcutaneous nodule	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0200036	HP:0001482	Subcutaneous nodule	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0200036	HP:0001482	Subcutaneous nodule	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0200036	HP:0001482	Subcutaneous nodule	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0200036	HP:0001482	Subcutaneous nodule	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0200036	HP:0001482	Subcutaneous nodule	1	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040282 - Frequent	78
HP:0200036	HP:0001482	Subcutaneous nodule	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	3
HP:0200036	HP:0001482	Subcutaneous nodule	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional	72
HP:0200036	HP:0001482	Subcutaneous nodule	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional	44
HP:0200036	HP:0001482	Subcutaneous nodule	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0200036	HP:0001482	Subcutaneous nodule	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0200036	HP:0010732	Nodular changes affecting the eyelids	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0200036	HP:0001482	Subcutaneous nodule	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0200036	HP:0001482	Subcutaneous nodule	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0200036	HP:0010606	Hordeolum	2	CL E G H
HP:0200036	HP:0010604	Cyst of the eyelid	2	CL E G H
HP:0200036	HP:0001114	Xanthelasma	2	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0200036	HP:0001114	Xanthelasma	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0200036	HP:0001114	Xanthelasma	2	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0200036	HP:0001114	Xanthelasma	2	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0200036	HP:0001114	Xanthelasma	2	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2	.	356
HP:0200036	HP:0001114	Xanthelasma	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent	39
HP:0200036	HP:0007470	Periarticular subcutaneous nodules	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040281 - Very frequent	78
HP:0200036	HP:0007470	Periarticular subcutaneous nodules	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0200036	HP:0025014	Subcutaneous spheroids	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0200036	HP:0025014	Subcutaneous spheroids	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0200036	HP:0025014	Subcutaneous spheroids	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0200036	HP:0025014	Subcutaneous spheroids	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0200036	HP:0025014	Subcutaneous spheroids	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0200036	HP:0001114	Xanthelasma	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0200036	HP:0001114	Xanthelasma	2	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0200036	HP:0001114	Xanthelasma	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0200036	HP:0001114	Xanthelasma	2	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0200036	HP:0007470	Periarticular subcutaneous nodules	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0200036	HP:0001114	Xanthelasma	2	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0200036	HP:0001114	Xanthelasma	2	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	HP:0040283 - Occasional	106
HP:0200036	HP:0001114	Xanthelasma	2	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0200036	HP:0001114	Xanthelasma	2	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0200036	HP:0001114	Xanthelasma	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0200036	HP:0001114	Xanthelasma	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0200036	HP:0001114	Xanthelasma	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0200036	HP:0001114	Xanthelasma	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0200036	HP:0001114	Xanthelasma	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0200036	HP:0010608	Hordeolum internum	3	CL E G H
HP:0200036	HP:0010607	Hordeolum externum	3	CL E G H
HP:0200036	HP:0010605	Chalazion	3	CL E G H