Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of the palmar creases (HP:0010490)

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

..Starting node
..Absent palmar crease (HP:0010489)

Term ID:

10489

Name:

Absent palmar crease

Synonym:

Absence of the palmar creases; Absent palm lines; Aplasia of the palmar creases

Definition:

The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).

Comments:

Reference:

HP:0010489

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased palmar creases (HP:0006184)

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:0010489	HP:0010489	Absent palmar crease	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0010489	HP:0010489	Absent palmar crease	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0010489	HP:0010489	Absent palmar crease	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional	166
HP:0010489	HP:0010489	Absent palmar crease	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0010489	HP:0010489	Absent palmar crease	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional	48
HP:0010489	HP:0010489	Absent palmar crease	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0010489	HP:0010489	Absent palmar crease	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0010489	HP:0010489	Absent palmar crease	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0010489	HP:0010489	Absent palmar crease	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010489	HP:0010489	Absent palmar crease	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0010489	HP:0010489	Absent palmar crease	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0010489	HP:0010489	Absent palmar crease	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106

Genes (12) :DOK7 MUSK MYH3 MYOD1 NALCN NUP88 PIEZO2 RAPSN RIPK4 SLC18A3 SLC39A13 TUBA1A

Diseases (5) :ORPHA:994 ORPHA:2053 ORPHA:1154 OMIM:263650 ORPHA:157965

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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