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:0200042	HP:0200042	Skin ulcer	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0200042	HP:0200042	Skin ulcer	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040283 - Occasional	19
HP:0200042	HP:0200042	Skin ulcer	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	150
HP:0200042	HP:0200042	Skin ulcer	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0200042	HP:0200042	Skin ulcer	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040282 - Frequent	49
HP:0200042	HP:0200042	Skin ulcer	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	5
HP:0200042	HP:0200042	Skin ulcer	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0200042	HP:0200042	Skin ulcer	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0200042	HP:0200042	Skin ulcer	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0200042	HP:0200042	Skin ulcer	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent	1
HP:0200042	HP:0200042	Skin ulcer	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0200042	HP:0200042	Skin ulcer	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0200042	HP:0200042	Skin ulcer	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0200042	HP:0200042	Skin ulcer	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0200042	HP:0200042	Skin ulcer	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent	56
HP:0200042	HP:0200042	Skin ulcer	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0200042	HP:0200042	Skin ulcer	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0200042	HP:0200042	Skin ulcer	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0200042	HP:0200042	Skin ulcer	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	3
HP:0200042	HP:0200042	Skin ulcer	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0200042	HP:0200042	Skin ulcer	0	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040282 - Frequent	373
HP:0200042	HP:0200042	Skin ulcer	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040283 - Occasional	749
HP:0200042	HP:0200042	Skin ulcer	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0200042	HP:0200042	Skin ulcer	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional	10
HP:0200042	HP:0200042	Skin ulcer	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0200042	HP:0200042	Skin ulcer	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	27
HP:0200042	HP:0200042	Skin ulcer	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	111
HP:0200042	HP:0200042	Skin ulcer	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional
HP:0200042	HP:0200042	Skin ulcer	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0200042	HP:0200042	Skin ulcer	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent	9
HP:0200042	HP:0200042	Skin ulcer	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0200042	HP:0200042	Skin ulcer	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0200042	HP:0200042	Skin ulcer	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	51
HP:0200042	HP:0200042	Skin ulcer	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional	3
HP:0200042	HP:0200042	Skin ulcer	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0200042	HP:0200042	Skin ulcer	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0200042	HP:0200042	Skin ulcer	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040282 - Frequent	86
HP:0200042	HP:0200042	Skin ulcer	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0200042	HP:0200042	Skin ulcer	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional	7
HP:0200042	HP:0200042	Skin ulcer	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent	580
HP:0200042	HP:0200042	Skin ulcer	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0200042	HP:0200042	Skin ulcer	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0200042	HP:0200042	Skin ulcer	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0200042	HP:0200042	Skin ulcer	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0200042	HP:0200042	Skin ulcer	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0200042	HP:0200042	Skin ulcer	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0200042	HP:0200042	Skin ulcer	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0200042	HP:0200042	Skin ulcer	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0200042	HP:0200042	Skin ulcer	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0200042	HP:0200042	Skin ulcer	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional	15
HP:0200042	HP:0200042	Skin ulcer	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional	29
HP:0200042	HP:0200042	Skin ulcer	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0200042	HP:0200042	Skin ulcer	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0200042	HP:0200042	Skin ulcer	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	14
HP:0200042	HP:0200042	Skin ulcer	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	196
HP:0200042	HP:0200042	Skin ulcer	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0200042	HP:0200042	Skin ulcer	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0200042	HP:0200042	Skin ulcer	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0200042	HP:0200042	Skin ulcer	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0200042	HP:0200042	Skin ulcer	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent	124
HP:0200042	HP:0200042	Skin ulcer	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0200042	HP:0200042	Skin ulcer	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0200042	HP:0200042	Skin ulcer	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0200042	HP:0200042	Skin ulcer	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	100
HP:0200042	HP:0200042	Skin ulcer	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	45
HP:0200042	HP:0200042	Skin ulcer	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116
HP:0200042	HP:0200042	Skin ulcer	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0200042	HP:0200042	Skin ulcer	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0200042	HP:0200042	Skin ulcer	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0200042	HP:0200042	Skin ulcer	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent	22
HP:0200042	HP:0200042	Skin ulcer	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0200042	HP:0200042	Skin ulcer	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0200042	HP:0200042	Skin ulcer	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0200042	HP:0200042	Skin ulcer	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	13
HP:0200042	HP:0200042	Skin ulcer	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	67
HP:0200042	HP:0200042	Skin ulcer	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	37
HP:0200042	HP:0200042	Skin ulcer	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0200042	HP:0200042	Skin ulcer	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0200042	HP:0200042	Skin ulcer	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0200042	HP:0200042	Skin ulcer	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0200042	HP:0200042	Skin ulcer	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.	187
HP:0200042	HP:0200042	Skin ulcer	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0200042	HP:0200042	Skin ulcer	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0200042	HP:0200042	Skin ulcer	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	144
HP:0200042	HP:0200042	Skin ulcer	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0200042	HP:0200042	Skin ulcer	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0200042	HP:0200042	Skin ulcer	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0200042	HP:0200042	Skin ulcer	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0200042	HP:0200042	Skin ulcer	0	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0200042	HP:0200042	Skin ulcer	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0200042	HP:0200042	Skin ulcer	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0200042	HP:0200042	Skin ulcer	0	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040282 - Frequent	9
HP:0200042	HP:0200042	Skin ulcer	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	28
HP:0200042	HP:0200042	Skin ulcer	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0200042	HP:0200042	Skin ulcer	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0200042	HP:0200042	Skin ulcer	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0200042	HP:0200042	Skin ulcer	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0200042	HP:0200042	Skin ulcer	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent	759
HP:0200042	HP:0200042	Skin ulcer	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040283 - Occasional	75
HP:0200042	HP:0200042	Skin ulcer	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0200042	HP:0200042	Skin ulcer	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040281 - Very frequent	96
HP:0200042	HP:0200042	Skin ulcer	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0200042	HP:0200042	Skin ulcer	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional	58
HP:0200042	HP:0200042	Skin ulcer	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0200042	HP:0200042	Skin ulcer	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0200042	HP:0200042	Skin ulcer	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0200042	HP:0200042	Skin ulcer	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0200042	HP:0200042	Skin ulcer	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0200042	HP:0200042	Skin ulcer	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0200042	HP:0200042	Skin ulcer	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0200042	HP:0200042	Skin ulcer	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0200042	HP:0200042	Skin ulcer	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent	55
HP:0200042	HP:0200042	Skin ulcer	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	109
HP:0200042	HP:0200042	Skin ulcer	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	228
HP:0200042	HP:0200042	Skin ulcer	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	156
HP:0200042	HP:0200042	Skin ulcer	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0200042	HP:0200042	Skin ulcer	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0200042	HP:0200042	Skin ulcer	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0200042	HP:0200042	Skin ulcer	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.	149
HP:0200042	HP:0200042	Skin ulcer	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0200042	HP:0200042	Skin ulcer	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040281 - Very frequent	110
HP:0200042	HP:0200042	Skin ulcer	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0200042	HP:0200042	Skin ulcer	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0200042	HP:0200042	Skin ulcer	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0200042	HP:0200042	Skin ulcer	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0200042	HP:0200042	Skin ulcer	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0200042	HP:0200042	Skin ulcer	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0200042	HP:0200042	Skin ulcer	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0200042	HP:0200042	Skin ulcer	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0200042	HP:0200042	Skin ulcer	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0200042	HP:0200042	Skin ulcer	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0200042	HP:0200042	Skin ulcer	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0200042	HP:0200042	Skin ulcer	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1	.	56
HP:0200042	HP:0200042	Skin ulcer	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent	151
HP:0200042	HP:0200042	Skin ulcer	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0200042	HP:0200042	Skin ulcer	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent
HP:0200042	HP:0200042	Skin ulcer	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0200042	HP:0200042	Skin ulcer	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0200042	HP:0200042	Skin ulcer	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0200042	HP:0200042	Skin ulcer	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0200042	HP:0200042	Skin ulcer	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0200042	HP:0200042	Skin ulcer	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0200042	HP:0200042	Skin ulcer	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0200042	HP:0200042	Skin ulcer	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0200042	HP:0200042	Skin ulcer	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0200042	HP:0012399	Pressure ulcer	1	CL E G H
HP:0200042	HP:0001026	Penetrating foot ulcers	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0200042	HP:0001026	Penetrating foot ulcers	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0200042	HP:0031917	Digital ulcer	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0200042	HP:0031917	Digital ulcer	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0200042	HP:0001026	Penetrating foot ulcers	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040284 - Very rare	28
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0200042	HP:0031917	Digital ulcer	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0200042	HP:0031917	Digital ulcer	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional	281
HP:0200042	HP:0031917	Digital ulcer	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0200042	HP:0031917	Digital ulcer	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0200042	HP:0031917	Digital ulcer	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0200042	HP:0031917	Digital ulcer	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0200042	HP:0031917	Digital ulcer	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0200042	HP:0001026	Penetrating foot ulcers	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0200042	HP:0031917	Digital ulcer	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0200042	HP:0001026	Penetrating foot ulcers	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0200042	HP:0031917	Digital ulcer	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0200042	HP:0001026	Penetrating foot ulcers	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0200042	HP:0025452	Pyoderma gangrenosum	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0200042	HP:0031917	Digital ulcer	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0200042	HP:0006121	Acral ulceration	2	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040283 - Occasional	56
HP:0200042	HP:0006121	Acral ulceration	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0200042	HP:0006121	Acral ulceration	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0200042	HP:0006121	Acral ulceration	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0200042	HP:0006121	Acral ulceration	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0200042	HP:0006121	Acral ulceration	2	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0200042	HP:0006121	Acral ulceration	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0200042	HP:0006121	Acral ulceration	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0200042	HP:0006121	Acral ulceration	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0200042	HP:0006121	Acral ulceration	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0200042	HP:0006121	Acral ulceration	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0200042	HP:0006121	Acral ulceration	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199