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 flexion creases (HP:0006143)

Parent Node:
Absent phalangeal crease (HP:0006109)

..Starting node
..Single interphalangeal crease of fifth finger (HP:0006216)

Term ID:

6216

Name:

Single interphalangeal crease of fifth finger

Synonym:

Fifth finger single interphalangeal crease

Definition:

Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.

Comments:

Reference:

HP:0006216

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent distal interphalangeal creases (HP:0001032)

Absent proximal finger flexion creases (HP:0006077)

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:0006216	HP:0006216	Single interphalangeal crease of fifth finger	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0006216	HP:0006216	Single interphalangeal crease of fifth finger	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0006216	HP:0006216	Single interphalangeal crease of fifth finger	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120

Genes (3) :MASP1 RBBP8 ROR2

Diseases (3) :OMIM:257920 OMIM:251255 OMIM:268310

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.