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:
Aplasia/Hypoplasia of toe (HP:0001991)

Grandparent Node:
Short digit (HP:0011927)

Parent Node:
Abnormality of the phalanges of the toes (HP:0010161)

Parent Node:
Short toe (HP:0001831)

..Starting node
..Shortening of all phalanges of the toes (HP:0005035)

Term ID:

5035

Name:

Shortening of all phalanges of the toes

Synonym:

Short toe bones

Definition:

Developmental hypoplasia (shortening) of all phalanges of the foot.

Comments:

Reference:

HP:0005035

Genes and Diseases:

Child Nodes:

........

Short distal phalanx of toe (HP:0001857)

................... HP:0005793 Shortening of all distal phalanges of the toes

Sister Nodes:

Short 2nd toe (HP:0001885)

Short 3rd toe (HP:0005643)

Short 4th toe (HP:0008093)

Short 5th toe (HP:0011917)

Short hallux (HP:0010109)

Short middle phalanx of toe (HP:0003795)

Short proximal phalanx of toe (HP:0011928)

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:0005035	HP:0005035	Shortening of all phalanges of the toes	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0005035	HP:0005035	Shortening of all phalanges of the toes	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0005035	HP:0005035	Shortening of all phalanges of the toes	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0005035	HP:0005035	Shortening of all phalanges of the toes	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0005035	HP:0005035	Shortening of all phalanges of the toes	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0005035	HP:0005035	Shortening of all phalanges of the toes	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0005035	HP:0005035	Shortening of all phalanges of the toes	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0005035	HP:0005035	Shortening of all phalanges of the toes	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0005035	HP:0005035	Shortening of all phalanges of the toes	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0005035	HP:0001857	Short distal phalanx of toe	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0005035	HP:0001857	Short distal phalanx of toe	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0005035	HP:0001857	Short distal phalanx of toe	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0005035	HP:0001857	Short distal phalanx of toe	1	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040281 - Very frequent	22
HP:0005035	HP:0001857	Short distal phalanx of toe	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0005035	HP:0001857	Short distal phalanx of toe	1	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0005035	HP:0001857	Short distal phalanx of toe	1	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0005035	HP:0001857	Short distal phalanx of toe	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0005035	HP:0005793	Shortening of all distal phalanges of the toes	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0005035	HP:0005793	Shortening of all distal phalanges of the toes	2	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214
HP:0005035	HP:0005793	Shortening of all distal phalanges of the toes	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (8) :ARSL FIG4 KCNH1 NOG PIGF SOX9 TRPV4 VAC14

Diseases (8) :ORPHA:79345 ORPHA:3472 OMIM:135500 ORPHA:140908 OMIM:619356 OMIM:114290 OMIM:606835 ORPHA:85169

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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