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 palmar dermatoglyphics (HP:0001018)

Parent Node:
Abnormality of the palmar creases (HP:0010490)

..Starting node
..Sydney crease (HP:0011311)

Term ID:

11311

Name:

Sydney crease

Synonym:

Definition:

Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.

Comments:

Reference:

HP:0011311

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the palmar creases (HP:0010488)

Bridged palmar crease (HP:0011310)

Deep palmar crease (HP:0006191)

Multiple palmar creases (HP:0006114)

Prominent palmar flexion creases (HP:0006157)

Single transverse palmar crease (HP:0000954)

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:0011311	HP:0011311	Sydney crease	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7

Genes (1) :YY1

Diseases (1) :ORPHA:506358

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