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:
Abnormality of the palmar creases (HP:0010490)

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

..Starting node
..Decreased palmar creases (HP:0006184)

Term ID:

6184

Name:

Decreased palmar creases

Synonym:

Hypoplastic palmar creases; Poorly formed palmar creases; Shallow palm line; Shallow palmar creases

Definition:

Poorly defined or shallow palmar creases.

Comments:

Reference:

HP:0006184

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent palmar crease (HP:0010489)

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:0006184	HP:0006184	Decreased palmar creases	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0006184	HP:0006184	Decreased palmar creases	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0006184	HP:0006184	Decreased palmar creases	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0006184	HP:0006184	Decreased palmar creases	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0006184	HP:0006184	Decreased palmar creases	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0006184	HP:0006184	Decreased palmar creases	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5

Genes (5) :AUTS2 CHST14 DSE PIEZO2 PLOD3

Diseases (5) :ORPHA:352490 OMIM:615834 ORPHA:2953 OMIM:108145 OMIM:612394

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