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 toe (HP:0001780)

Parent Node:
Abnormality of the hallux (HP:0001844)

Parent Node:
Long toe (HP:0010511)

..Starting node
..Long hallux (HP:0001847)

Term ID:

1847

Name:

Long hallux

Synonym:

Increased length of the hallux; Large halluces; Long big toe; Long halluces

Definition:

Increased length of the big toe.

Comments:

Reference:

HP:0001847

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001847	HP:0001847	Long hallux	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0001847	HP:0001847	Long hallux	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0001847	HP:0001847	Long hallux	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0001847	HP:0001847	Long hallux	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0001847	HP:0001847	Long hallux	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0001847	HP:0001847	Long hallux	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001847	HP:0001847	Long hallux	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0001847	HP:0001847	Long hallux	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0001847	HP:0001847	Long hallux	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0001847	HP:0001847	Long hallux	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001847	HP:0001847	Long hallux	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001847	HP:0001847	Long hallux	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0001847	HP:0001847	Long hallux	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0001847	HP:0001847	Long hallux	0	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type	.	53
HP:0001847	HP:0001847	Long hallux	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001847	HP:0001847	Long hallux	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001847	HP:0001847	Long hallux	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0001847	HP:0001847	Long hallux	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0001847	HP:0001847	Long hallux	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0001847	HP:0001847	Long hallux	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0001847	HP:0001847	Long hallux	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	HP:0040283 - Occasional	11
HP:0001847	HP:0001847	Long hallux	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0001847	HP:0001847	Long hallux	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362

Genes (18) :DPM1 FAM20C FIBP FLI1 GNAI1 GNE KCNH1 KCNN3 NKX3-2 NPR2 NPR3 POLR3GL PRKAR1A PTH1R SCARF2 SMS SOX5 ZEB2

Diseases (23) :ORPHA:79322 OMIM:259775 ORPHA:500095 OMIM:617107 ORPHA:2308 OMIM:619854 OMIM:269921 ORPHA:3166 ORPHA:420561 OMIM:611816 OMIM:618658 OMIM:613330 OMIM:602875 OMIM:615923 OMIM:619543 OMIM:619234 OMIM:101800 OMIM:600002 OMIM:600920 OMIM:309583 OMIM:616803 ORPHA:261552 ORPHA:261537

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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