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:
Localized skin lesion (HP:0011355)

Parent Node:
Skin nodule (HP:0200036)

..Starting node
..Subcutaneous nodule (HP:0001482)

Term ID:

1482

Name:

Subcutaneous nodule

Synonym:

Firm lump under the skin; Growth of abnormal tissue under the skin; Multiple, subcutaneous nodules; Nodule below the skin; Subcutaneous nodules

Definition:

Slightly elevated lesions on or in the skin with a diameter of over 5 mm.

Comments:

Reference:

HP:0001482

Genes and Diseases:

Child Nodes:

........

Periarticular subcutaneous nodules (HP:0007470)

........

Subcutaneous spheroids (HP:0025014)

Sister Nodes:

Acrokeratosis (HP:0200016)

Hyperpigmented nodule (HP:0025529)

Nodular changes affecting the eyelids (HP:0010732)

Osteoma cutis (HP:0025027)

Umbilicated nodule (HP:0025103)

Yellow nodule (HP:0025554)

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:0001482	HP:0001482	Subcutaneous nodule	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0001482	HP:0001482	Subcutaneous nodule	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0001482	HP:0001482	Subcutaneous nodule	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0001482	HP:0001482	Subcutaneous nodule	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0001482	HP:0001482	Subcutaneous nodule	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0001482	HP:0001482	Subcutaneous nodule	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0001482	HP:0001482	Subcutaneous nodule	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040281 - Very frequent	49
HP:0001482	HP:0001482	Subcutaneous nodule	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent	3179
HP:0001482	HP:0001482	Subcutaneous nodule	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0001482	HP:0001482	Subcutaneous nodule	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0001482	HP:0001482	Subcutaneous nodule	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001482	HP:0001482	Subcutaneous nodule	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001482	HP:0001482	Subcutaneous nodule	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0001482	HP:0001482	Subcutaneous nodule	0	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040281 - Very frequent	276
HP:0001482	HP:0001482	Subcutaneous nodule	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0001482	HP:0001482	Subcutaneous nodule	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0001482	HP:0001482	Subcutaneous nodule	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0001482	HP:0001482	Subcutaneous nodule	0	CDK4 CL E G H	1019	1773	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent	145
HP:0001482	HP:0001482	Subcutaneous nodule	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0001482	HP:0001482	Subcutaneous nodule	0	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent	373
HP:0001482	HP:0001482	Subcutaneous nodule	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0001482	HP:0001482	Subcutaneous nodule	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0001482	HP:0001482	Subcutaneous nodule	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001482	HP:0001482	Subcutaneous nodule	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0001482	HP:0001482	Subcutaneous nodule	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0001482	HP:0001482	Subcutaneous nodule	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional	263
HP:0001482	HP:0001482	Subcutaneous nodule	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent	88
HP:0001482	HP:0001482	Subcutaneous nodule	0	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma		88
HP:0001482	HP:0001482	Subcutaneous nodule	0	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis	HP:0040281 - Very frequent	126
HP:0001482	HP:0001482	Subcutaneous nodule	0	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma	HP:0040281 - Very frequent	126
HP:0001482	HP:0001482	Subcutaneous nodule	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	2
HP:0001482	HP:0001482	Subcutaneous nodule	0	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040281 - Very frequent
HP:0001482	HP:0001482	Subcutaneous nodule	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent	14
HP:0001482	HP:0001482	Subcutaneous nodule	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0001482	HP:0001482	Subcutaneous nodule	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0001482	HP:0001482	Subcutaneous nodule	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	59
HP:0001482	HP:0001482	Subcutaneous nodule	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional	1361
HP:0001482	HP:0001482	Subcutaneous nodule	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0001482	HP:0001482	Subcutaneous nodule	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	172
HP:0001482	HP:0001482	Subcutaneous nodule	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0001482	HP:0001482	Subcutaneous nodule	0	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040281 - Very frequent	105
HP:0001482	HP:0001482	Subcutaneous nodule	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0001482	HP:0001482	Subcutaneous nodule	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0001482	HP:0001482	Subcutaneous nodule	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040281 - Very frequent	101
HP:0001482	HP:0001482	Subcutaneous nodule	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	4
HP:0001482	HP:0001482	Subcutaneous nodule	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0001482	HP:0001482	Subcutaneous nodule	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0001482	HP:0001482	Subcutaneous nodule	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001482	HP:0001482	Subcutaneous nodule	0	HMGA2 CL E G H	8091	5009	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent	2
HP:0001482	HP:0001482	Subcutaneous 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:0001482	HP:0001482	Subcutaneous nodule	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent	15
HP:0001482	HP:0001482	Subcutaneous nodule	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040282 - Frequent	15
HP:0001482	HP:0001482	Subcutaneous nodule	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent	29
HP:0001482	HP:0001482	Subcutaneous nodule	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040282 - Frequent	29
HP:0001482	HP:0001482	Subcutaneous nodule	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0001482	HP:0001482	Subcutaneous nodule	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	60
HP:0001482	HP:0001482	Subcutaneous nodule	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0001482	HP:0001482	Subcutaneous nodule	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0001482	HP:0001482	Subcutaneous nodule	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0001482	HP:0001482	Subcutaneous nodule	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0001482	HP:0001482	Subcutaneous nodule	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0001482	HP:0001482	Subcutaneous nodule	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent	229
HP:0001482	HP:0001482	Subcutaneous nodule	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0001482	HP:0001482	Subcutaneous nodule	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0001482	HP:0001482	Subcutaneous nodule	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0001482	HP:0001482	Subcutaneous nodule	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	196
HP:0001482	HP:0001482	Subcutaneous nodule	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0001482	HP:0001482	Subcutaneous nodule	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent	68
HP:0001482	HP:0001482	Subcutaneous nodule	0	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040283 - Occasional	68
HP:0001482	HP:0001482	Subcutaneous nodule	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	124
HP:0001482	HP:0001482	Subcutaneous nodule	0	MDM2 CL E G H	4193	6973	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent	1
HP:0001482	HP:0001482	Subcutaneous nodule	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	281
HP:0001482	HP:0001482	Subcutaneous nodule	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0001482	HP:0001482	Subcutaneous nodule	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent	2
HP:0001482	HP:0001482	Subcutaneous nodule	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0001482	HP:0001482	Subcutaneous nodule	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent	64
HP:0001482	HP:0001482	Subcutaneous nodule	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0001482	HP:0001482	Subcutaneous nodule	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0001482	HP:0001482	Subcutaneous nodule	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent	144
HP:0001482	HP:0001482	Subcutaneous nodule	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	102
HP:0001482	HP:0001482	Subcutaneous nodule	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001482	HP:0001482	Subcutaneous nodule	0	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent	9
HP:0001482	HP:0001482	Subcutaneous nodule	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent	28
HP:0001482	HP:0001482	Subcutaneous nodule	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0001482	HP:0001482	Subcutaneous nodule	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001482	HP:0001482	Subcutaneous nodule	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0001482	HP:0001482	Subcutaneous nodule	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040282 - Frequent	948
HP:0001482	HP:0001482	Subcutaneous nodule	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0001482	HP:0001482	Subcutaneous nodule	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0001482	HP:0001482	Subcutaneous nodule	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0001482	HP:0001482	Subcutaneous nodule	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040282 - Frequent	58
HP:0001482	HP:0001482	Subcutaneous nodule	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0001482	HP:0001482	Subcutaneous nodule	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0001482	HP:0001482	Subcutaneous nodule	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	124
HP:0001482	HP:0001482	Subcutaneous nodule	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0001482	HP:0001482	Subcutaneous nodule	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0001482	HP:0001482	Subcutaneous nodule	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0001482	HP:0001482	Subcutaneous nodule	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0001482	HP:0001482	Subcutaneous nodule	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0001482	HP:0001482	Subcutaneous nodule	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040282 - Frequent	78
HP:0001482	HP:0001482	Subcutaneous nodule	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	3
HP:0001482	HP:0001482	Subcutaneous nodule	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional	72
HP:0001482	HP:0001482	Subcutaneous nodule	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional	44
HP:0001482	HP:0001482	Subcutaneous nodule	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0001482	HP:0001482	Subcutaneous nodule	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0001482	HP:0001482	Subcutaneous nodule	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0001482	HP:0001482	Subcutaneous nodule	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0001482	HP:0007470	Periarticular subcutaneous nodules	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040281 - Very frequent	78
HP:0001482	HP:0007470	Periarticular subcutaneous nodules	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0001482	HP:0025014	Subcutaneous spheroids	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0001482	HP:0025014	Subcutaneous spheroids	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0001482	HP:0025014	Subcutaneous spheroids	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001482	HP:0025014	Subcutaneous spheroids	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0001482	HP:0025014	Subcutaneous spheroids	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0001482	HP:0007470	Periarticular subcutaneous nodules	1	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

Genes (87) :ABCC6 ACVR1 AKT1 ANTXR2 APC APOE ASAH1 B2M BRAF BTNL2 C4A CCR1 CDK4 COL1A1 COL3A1 COL5A1 COL5A2 COL7A1 CTNNB1 CYLD DACT1 DDIT3 ECM1 ENPP1 ERAP1 FAS FBN1 FERMT3 FGFR1 FGFR2 FUS GLA GLS GNAS HLA-B HLA-DRB1 HMGA2 IARS2 IDH1 IDH2 IFNG IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R INSR KIF11 KLLN KLRC4 KRAS LEMD3 MC1R MDM2 MEFV MLX MMP14 MMP2 MYSM1 NAGA NOTCH3 NRAS OCRL PDGFB PDGFRB PIK3CA POMP PORCN PTEN PTH1R PTPN11 RAF1 SALL1 SDHB SDHC SDHD SEC23B STAT4 TEK TLR4 TNFRSF11A TNFRSF11B TSC1 TSC2 UBAC2 USF3

Diseases (60) :ORPHA:758 ORPHA:337 ORPHA:201 ORPHA:744 OMIM:228600 ORPHA:2176 ORPHA:2028 ORPHA:873 ORPHA:158029 ORPHA:333 OMIM:228000 OMIM:241600 ORPHA:500 ORPHA:840 ORPHA:797 ORPHA:117 ORPHA:99971 ORPHA:287 ORPHA:31112 ORPHA:286 OMIM:130000 OMIM:130010 ORPHA:89843 ORPHA:91414 ORPHA:211 ORPHA:867 ORPHA:857 ORPHA:99967 ORPHA:530 ORPHA:2833 OMIM:612840 ORPHA:2396 ORPHA:1555 ORPHA:324 OMIM:618339 ORPHA:2762 ORPHA:3287 ORPHA:94063 ORPHA:436174 ORPHA:163634 ORPHA:296 OMIM:613254 ORPHA:2297 ORPHA:2526 ORPHA:1306 ORPHA:1879 ORPHA:626 ORPHA:371428 OMIM:259600 ORPHA:508542 ORPHA:79280 ORPHA:2591 OMIM:309000 OMIM:618048 ORPHA:2092 ORPHA:109 ORPHA:137608 ORPHA:1059 ORPHA:2801 OMIM:191100

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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