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 digit morphology (HP:0011297)

Grandparent Node:
Abnormality of the hand (HP:0001155)

Parent Node:
Abnormality of finger (HP:0001167)

..Starting node
..Swan neck-like deformities of the fingers (HP:0006150)

Term ID:

6150

Name:

Swan neck-like deformities of the fingers

Synonym:

Definition:

A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.

Comments:

Reference:

HP:0006150

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal 2nd finger morphology (HP:0004100)

Abnormal 3rd finger morphology (HP:0004150)

Abnormal 4th finger morphology (HP:0004188)

Abnormal 5th finger morphology (HP:0004207)

Abnormal finger flexion creases (HP:0006143)

Abnormal finger phalanx morphology (HP:0005918)

Abnormal fingertip morphology (HP:0001211)

Abnormal thumb morphology (HP:0001172)

Aplasia/Hypoplasia of fingers (HP:0006265)

Broad finger (HP:0001500)

Chilblains (HP:0009710)

Curved fingers (HP:0004095)

Deviation of finger (HP:0004097)

Finger dactylitis (HP:0031090)

Finger joint hypermobility (HP:0006094)

Finger swelling (HP:0025131)

Long fingers (HP:0100807)

Macrodactyly of finger (HP:0100746)

Mallet finger (HP:0030771)

Slender finger (HP:0001238)

Spindle-shaped finger (HP:0031092)

Splayed fingers (HP:0030029)

Trident hand (HP:0004060)

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:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.	309
HP:0006150	HP:0006150	Swan neck-like deformities of the fingers	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3

Genes (9) :CD244 CIITA IL10 NFKBIL1 PCDHGC4 PEX5 PTPN22 SACS SLC22A4

Diseases (4) :OMIM:180300 OMIM:619880 OMIM:616716 OMIM:270550

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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