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 hand (HP:0001155)

Parent Node:
Abnormal palm morphology (HP:0100871)

..Starting node
..Narrow palm (HP:0004283)

Term ID:

4283

Name:

Narrow palm

Synonym:

Narrow hand; Narrow hands; Narrow palm

Definition:

For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.

Comments:

Reference:

HP:0004283

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal skin morphology of the palm (HP:0040211)

Broad palm (HP:0001169)

Long palm (HP:0011302)

Palmar neurofibromas (HP:0007576)

Short palm (HP:0004279)

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:0004283	HP:0004283	Narrow palm	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0004283	HP:0004283	Narrow palm	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0004283	HP:0004283	Narrow palm	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0004283	HP:0004283	Narrow palm	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0004283	HP:0004283	Narrow palm	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0004283	HP:0004283	Narrow palm	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0004283	HP:0004283	Narrow palm	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0004283	HP:0004283	Narrow palm	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0004283	HP:0004283	Narrow palm	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional	63
HP:0004283	HP:0004283	Narrow palm	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0004283	HP:0004283	Narrow palm	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0004283	HP:0004283	Narrow palm	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0004283	HP:0004283	Narrow palm	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional
HP:0004283	HP:0004283	Narrow palm	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0004283	HP:0004283	Narrow palm	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0004283	HP:0004283	Narrow palm	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0004283	HP:0004283	Narrow palm	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0004283	HP:0004283	Narrow palm	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0004283	HP:0004283	Narrow palm	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0004283	HP:0004283	Narrow palm	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional	37
HP:0004283	HP:0004283	Narrow palm	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0004283	HP:0004283	Narrow palm	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0004283	HP:0004283	Narrow palm	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546

Genes (20) :AUTS2 DPYSL5 GNB1 HERC2 IPW KANSL1 KMT2B MAGEL2 MKRN3 MKRN3-AS1 NDN NPAP1 PWAR1 PWRN1 SMS SNORD115-1 SNORD116-1 SNRPN UBE3B VPS13B

Diseases (12) :ORPHA:352490 OMIM:619435 OMIM:616973 OMIM:176270 OMIM:610443 OMIM:619934 ORPHA:177910 OMIM:615547 OMIM:309583 OMIM:244450 OMIM:216550 ORPHA:193

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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