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:
Abnormal finger phalanx morphology (HP:0005918)

Parent Node:
Abnormal distal phalanx morphology of finger (HP:0009832)

Parent Node:
Distal symphalangism (HP:0100263)

Parent Node:
Finger symphalangism (HP:0009700)

Parent Node:
Symphalangism affecting the phalanges of the hand (HP:0009773)

..Starting node
..Distal symphalangism of hands (HP:0001204)

Term ID:

1204

Name:

Distal symphalangism of hands

Synonym:

Fused outermost bones of hand; Symphalangism affecting the distal phalanges of the hand; Synostosis of distal phalanges; Terminal symphalangism

Definition:

The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.

Comments:

Reference:

HP:0001204

Genes and Diseases:

Child Nodes:

........

Distal/middle symphalangism of 5th finger (HP:0009244)

........

Distal/middle symphalangism of 4th finger (HP:0009305)

........

Distal/middle symphalangism of 3rd finger (HP:0009426)

........

Distal/middle symphalangism of 2nd finger (HP:0009563)

........

Symphalangism of the thumb (HP:0009656)

Sister Nodes:

obsolete Fusion of midphalangeal joints (HP:0006187)

Progressive fusion 2nd-5th pip joints (HP:0006147)

Proximal symphalangism of hands (HP:0006152)

Symphalangism affecting the proximal phalanges of the hand (HP:0009857)

Symphalangism of middle phalanx of finger (HP:0009849)

Symphalangism of the 2nd finger (HP:0009545)

Symphalangism of the 3rd finger (HP:0009445)

Symphalangism of the 4th finger (HP:0004197)

Symphalangism of the 5th finger (HP:0004218)

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:0001204	HP:0001204	Distal symphalangism of hands	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	90
HP:0001204	HP:0001204	Distal symphalangism of hands	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	52
HP:0001204	HP:0001204	Distal symphalangism of hands	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	44
HP:0001204	HP:0001204	Distal symphalangism of hands	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0001204	HP:0001204	Distal symphalangism of hands	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0001204	HP:0001204	Distal symphalangism of hands	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0001204	HP:0001204	Distal symphalangism of hands	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0001204	HP:0001204	Distal symphalangism of hands	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0001204	HP:0009656	Symphalangism of the thumb	1	CL E G H
HP:0001204	HP:0009563	Distal/middle symphalangism of 2nd finger	1	CL E G H
HP:0001204	HP:0009426	Distal/middle symphalangism of 3rd finger	1	CL E G H
HP:0001204	HP:0009305	Distal/middle symphalangism of 4th finger	1	CL E G H
HP:0001204	HP:0009244	Distal/middle symphalangism of 5th finger	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104

Genes (5) :BMPR1B GDF5 IHH NOG TFAP2B

Diseases (6) :ORPHA:93388 OMIM:112500 OMIM:611377 OMIM:185800 OMIM:186570 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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