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 phalanges of the toes (HP:0010161)

Grandparent Node:
Broad phalanx (HP:0006009)

Grandparent Node:
obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

Parent Node:
Abnormal hallux phalanx morphology (HP:0010057)

Parent Node:
Broad phalanx of the toes (HP:0010174)

..Starting node
..Broad hallux phalanx (HP:0010059)

Term ID:

10059

Name:

Broad hallux phalanx

Synonym:

Broad bone of big toe; Broad phalanges of the hallux; Wide bone of big toe

Definition:

An increase in width in one or more phalanges of the big toe.

Comments:

Reference:

HP:0010059

Genes and Diseases:

Child Nodes:

........

Broad distal phalanx of the hallux (HP:0010077)

........

Broad proximal phalanx of the hallux (HP:0010086)

Sister Nodes:

Broad distal phalanx of the toes (HP:0010186)

Broad middle phalanges of the toes (HP:0010195)

Broad phalanges of the 2nd toe (HP:0010348)

Broad phalanges of the 3rd toe (HP:0010360)

Broad phalanges of the 4th toe (HP:0010372)

Broad phalanges of the 5th toe (HP:0010384)

Broad proximal phalanx of toe (HP:0010204)

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:0010059	HP:0010059	Broad hallux phalanx	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0010059	HP:0010059	Broad hallux phalanx	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional	13
HP:0010059	HP:0010059	Broad hallux phalanx	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010059	HP:0010059	Broad hallux phalanx	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0010059	HP:0010059	Broad hallux phalanx	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0010059	HP:0010059	Broad hallux phalanx	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0010059	HP:0010059	Broad hallux phalanx	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010059	HP:0010059	Broad hallux phalanx	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0010059	HP:0010059	Broad hallux phalanx	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040283 - Occasional	175
HP:0010059	HP:0010059	Broad hallux phalanx	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040281 - Very frequent	175
HP:0010059	HP:0010059	Broad hallux phalanx	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0010059	HP:0010059	Broad hallux phalanx	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0010059	HP:0010059	Broad hallux phalanx	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0010059	HP:0010059	Broad hallux phalanx	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0010059	HP:0010059	Broad hallux phalanx	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0010059	HP:0010059	Broad hallux phalanx	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0010059	HP:0010059	Broad hallux phalanx	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome	HP:0040282 - Frequent	270
HP:0010059	HP:0010059	Broad hallux phalanx	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0010059	HP:0010059	Broad hallux phalanx	0	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D		25
HP:0010059	HP:0010059	Broad hallux phalanx	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0010059	HP:0010059	Broad hallux phalanx	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0010059	HP:0010059	Broad hallux phalanx	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0010059	HP:0010059	Broad hallux phalanx	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0010059	HP:0010059	Broad hallux phalanx	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0010059	HP:0010059	Broad hallux phalanx	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0010059	HP:0010059	Broad hallux phalanx	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent	80
HP:0010059	HP:0010086	Broad proximal phalanx of the hallux	1	CL E G H
HP:0010059	HP:0010077	Broad distal phalanx of the hallux	1	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D	.	25

Genes (21) :ABCC9 BMP2 CREBBP CTCF DACT1 EFNB1 EP300 FGFR1 FGFR2 FLI1 GATA4 GLI3 GPC4 HOXD13 KCNJ8 NXN ROR2 SALL1 SALL4 SATB2 SUMF1

Diseases (21) :ORPHA:1517 ORPHA:261295 OMIM:180849 ORPHA:363611 ORPHA:857 ORPHA:1520 ORPHA:93258 ORPHA:168624 ORPHA:1540 ORPHA:93259 ORPHA:93260 ORPHA:2308 ORPHA:251071 ORPHA:380 OMIM:175700 ORPHA:2662 OMIM:113200 ORPHA:1507 ORPHA:959 ORPHA:251019 ORPHA:585

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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