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:
Abnormal palmar dermatoglyphics (HP:0001018)

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

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

Term ID:

10488

Name:

Aplasia/Hypoplasia of the palmar creases

Synonym:

Absent/small palm crease; Absent/underdeveloped palm crease

Definition:

Absence or underdevelopment of the palmar creases.

Comments:

Reference:

HP:0010488

Genes and Diseases:

Child Nodes:

........

Decreased palmar creases (HP:0006184)

........

Absent palmar crease (HP:0010489)

Sister Nodes:

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)

Sydney crease (HP:0011311)

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:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0010488	HP:0010488	Aplasia/Hypoplasia of the palmar creases	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0010488	HP:0006184	Decreased palmar creases	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0010488	HP:0006184	Decreased palmar creases	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0010488	HP:0006184	Decreased palmar creases	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0010488	HP:0010489	Absent palmar crease	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0010488	HP:0006184	Decreased palmar creases	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0010488	HP:0010489	Absent palmar crease	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0010488	HP:0010489	Absent palmar crease	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional	166
HP:0010488	HP:0010489	Absent palmar crease	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0010488	HP:0010489	Absent palmar crease	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional	48
HP:0010488	HP:0010489	Absent palmar crease	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0010488	HP:0006184	Decreased palmar creases	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0010488	HP:0010489	Absent palmar crease	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0010488	HP:0006184	Decreased palmar creases	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0010488	HP:0010489	Absent palmar crease	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0010488	HP:0010489	Absent palmar crease	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010488	HP:0010489	Absent palmar crease	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0010488	HP:0010489	Absent palmar crease	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0010488	HP:0010489	Absent palmar crease	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106

Genes (16) :AUTS2 CHST14 DOK7 DSE MUSK MYH3 MYOD1 NALCN NUP88 PIEZO2 PLOD3 RAPSN RIPK4 SLC18A3 SLC39A13 TUBA1A

Diseases (10) :ORPHA:352490 OMIM:615834 ORPHA:2953 ORPHA:994 ORPHA:2053 OMIM:108145 ORPHA:1154 OMIM:612394 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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