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 hand (HP:0001155)

Parent Node:
Abnormal palm morphology (HP:0100871)

..Starting node
..Broad palm (HP:0001169)

Term ID:

1169

Name:

Broad palm

Synonym:

Broad hand; Broad hands; Broad palm; Wide palm

Definition:

For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.

Comments:

Reference:

HP:0001169

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal skin morphology of the palm (HP:0040211)

Long palm (HP:0011302)

Narrow palm (HP:0004283)

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:0001169	HP:0001169	Broad palm	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0001169	HP:0001169	Broad palm	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0001169	HP:0001169	Broad palm	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001169	HP:0001169	Broad palm	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001169	HP:0001169	Broad palm	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0001169	HP:0001169	Broad palm	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0001169	HP:0001169	Broad palm	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0001169	HP:0001169	Broad palm	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0001169	HP:0001169	Broad palm	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001169	HP:0001169	Broad palm	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0001169	HP:0001169	Broad palm	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0001169	HP:0001169	Broad palm	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0001169	HP:0001169	Broad palm	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001169	HP:0001169	Broad palm	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0001169	HP:0001169	Broad palm	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0001169	HP:0001169	Broad palm	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0001169	HP:0001169	Broad palm	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0001169	HP:0001169	Broad palm	0	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2	.	65
HP:0001169	HP:0001169	Broad palm	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0001169	HP:0001169	Broad palm	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0001169	HP:0001169	Broad palm	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0001169	HP:0001169	Broad palm	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0001169	HP:0001169	Broad palm	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0001169	HP:0001169	Broad palm	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0001169	HP:0001169	Broad palm	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0001169	HP:0001169	Broad palm	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0001169	HP:0001169	Broad palm	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001169	HP:0001169	Broad palm	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0001169	HP:0001169	Broad palm	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0001169	HP:0001169	Broad palm	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0001169	HP:0001169	Broad palm	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional

Genes (30) :ADAMTS10 AIFM1 ASXL1 B3GLCT BCOR COL2A1 DYM DYNC1H1 FBN1 FGD1 FGFR1 FHL1 GATA1 GNS GPC3 GPC4 IFT80 IHH LBR OFD1 PIGA PPP2R3C PRKAR1A PTH1R RAI1 RPS6KA3 SLC35C1 SPECC1L TBL1XR1 TONSL

Diseases (30) :OMIM:277600 OMIM:300232 OMIM:605039 OMIM:261540 ORPHA:2712 OMIM:271700 OMIM:223800 OMIM:614563 OMIM:608328 OMIM:305400 ORPHA:915 OMIM:166250 OMIM:300280 OMIM:190685 OMIM:252940 OMIM:312870 OMIM:611263 OMIM:112500 OMIM:215140 OMIM:300209 OMIM:300868 OMIM:618419 OMIM:101800 ORPHA:79106 OMIM:182290 OMIM:303600 ORPHA:99843 OMIM:145420 OMIM:602342 ORPHA:93357

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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