Human Phenotype Ontology

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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:
Synostosis of joints (HP:0100240)

Parent Node:
Synostosis involving digits (HP:0100262)

..Starting node
..Distal symphalangism (HP:0100263)

Term ID:

100263

Name:

Distal symphalangism

Synonym:

Symphalangism, distal

Definition:

Comments:

Reference:

HP:0100263

Genes and Diseases:

Child Nodes:

........

Distal symphalangism of hands (HP:0001204)

................... HP:0009244 Distal/middle symphalangism of 5th finger
................... HP:0009305 Distal/middle symphalangism of 4th finger
................... HP:0009426 Distal/middle symphalangism of 3rd finger
................... HP:0009563 Distal/middle symphalangism of 2nd finger
................... HP:0009656 Symphalangism of the thumb

........

Distal foot symphalangism (HP:0001859)

................... HP:0010082 Symphalangism affecting the distal phalanx of the hallux
................... HP:0010419 Symphalangism affecting the distal phalanx of the 2nd toe
................... HP:0100476 Symphalangism affecting the distal phalanx of the 3rd toe
................... HP:0100477 Symphalangism affecting the distal phalanx of the 4th toe
................... HP:0100478 Symphalangism affecting the distal phalanx of the 5th toe

Sister Nodes:

Finger symphalangism (HP:0009700)

Proximal symphalangism (HP:0100264)

Synostosis involving bones of the toes (HP:0100235)

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:0100263	HP:0100263	Distal symphalangism	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0100263	HP:0100263	Distal symphalangism	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0100263	HP:0100263	Distal symphalangism	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0100263	HP:0100263	Distal symphalangism	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0100263	HP:0100263	Distal symphalangism	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0100263	HP:0100263	Distal symphalangism	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0100263	HP:0100263	Distal symphalangism	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0100263	HP:0100263	Distal symphalangism	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional	531
HP:0100263	HP:0100263	Distal symphalangism	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0100263	HP:0001859	Distal foot symphalangism	1	CL E G H
HP:0100263	HP:0001204	Distal symphalangism of hands	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	90
HP:0100263	HP:0001204	Distal symphalangism of hands	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	52
HP:0100263	HP:0001204	Distal symphalangism of hands	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	44
HP:0100263	HP:0001204	Distal symphalangism of hands	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0100263	HP:0001204	Distal symphalangism of hands	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0100263	HP:0001204	Distal symphalangism of hands	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0100263	HP:0001204	Distal symphalangism of hands	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0100263	HP:0001204	Distal symphalangism of hands	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0100263	HP:0100477	Symphalangism affecting the distal phalanx of the 4th toe	2	CL E G H
HP:0100263	HP:0009305	Distal/middle symphalangism of 4th finger	2	CL E G H
HP:0100263	HP:0100476	Symphalangism affecting the distal phalanx of the 3rd toe	2	CL E G H
HP:0100263	HP:0010419	Symphalangism affecting the distal phalanx of the 2nd toe	2	CL E G H
HP:0100263	HP:0010082	Symphalangism affecting the distal phalanx of the hallux	2	CL E G H
HP:0100263	HP:0009656	Symphalangism of the thumb	2	CL E G H
HP:0100263	HP:0009563	Distal/middle symphalangism of 2nd finger	2	CL E G H
HP:0100263	HP:0100478	Symphalangism affecting the distal phalanx of the 5th toe	2	CL E G H
HP:0100263	HP:0009426	Distal/middle symphalangism of 3rd finger	2	CL E G H
HP:0100263	HP:0009244	Distal/middle symphalangism of 5th finger	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104

Genes (6) :BMPR1B GDF5 IHH NOG PCNT TFAP2B

Diseases (7) :ORPHA:93388 OMIM:112500 OMIM:611377 OMIM:185800 OMIM:186570 OMIM:210720 OMIM:169100

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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