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:
Abnormal digit morphology (HP:0011297)

Parent Node:
Abnormality of the phalanges of the toes (HP:0010161)

Parent Node:
Clubbing (HP:0001217)

..Starting node
..Clubbing of toes (HP:0100760)

Term ID:

100760

Name:

Clubbing of toes

Synonym:

Clubbed toes

Definition:

Terminal broadening of the toes (distal phalanges of the toes).

Comments:

Reference:

HP:0100760

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clubbing of fingers (HP:0100759)

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:0100760	HP:0100760	Clubbing of toes	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0100760	HP:0100760	Clubbing of toes	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0100760	HP:0100760	Clubbing of toes	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0100760	HP:0100760	Clubbing of toes	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0100760	HP:0100760	Clubbing of toes	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0100760	HP:0100760	Clubbing of toes	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0100760	HP:0100760	Clubbing of toes	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0100760	HP:0100760	Clubbing of toes	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0100760	HP:0100760	Clubbing of toes	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100760	HP:0100760	Clubbing of toes	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0100760	HP:0100760	Clubbing of toes	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100760	HP:0100760	Clubbing of toes	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0100760	HP:0100760	Clubbing of toes	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0100760	HP:0100760	Clubbing of toes	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0100760	HP:0100760	Clubbing of toes	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0100760	HP:0100760	Clubbing of toes	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent	55
HP:0100760	HP:0100760	Clubbing of toes	0	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing		55
HP:0100760	HP:0100760	Clubbing of toes	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent	55
HP:0100760	HP:0100760	Clubbing of toes	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0100760	HP:0100760	Clubbing of toes	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0100760	HP:0100760	Clubbing of toes	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0100760	HP:0100760	Clubbing of toes	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0100760	HP:0100760	Clubbing of toes	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0100760	HP:0100760	Clubbing of toes	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0100760	HP:0100760	Clubbing of toes	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040283 - Occasional	80
HP:0100760	HP:0100760	Clubbing of toes	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent	13
HP:0100760	HP:0100760	Clubbing of toes	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0100760	HP:0100760	Clubbing of toes	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0100760	HP:0100760	Clubbing of toes	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0100760	HP:0100760	Clubbing of toes	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0100760	HP:0100760	Clubbing of toes	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0100760	HP:0100760	Clubbing of toes	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125

Genes (30) :BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HNRNPH1 HPGD MAD2L2 PALB2 PIGL RAD51 RAD51C RFWD3 RHBDF2 SLCO2A1 SLX4 SMARCA2 TLL1 UBE2A UBE2T XRCC2

Diseases (10) :ORPHA:84 OMIM:620083 ORPHA:1525 ORPHA:217059 ORPHA:2796 ORPHA:3474 ORPHA:2198 ORPHA:3051 ORPHA:99106 ORPHA:163956

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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