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 middle phalanges of the toes (HP:0010183)

Parent Node:
Short toe (HP:0001831)

..Starting node
..Short middle phalanx of toe (HP:0003795)

Term ID:

3795

Name:

Short middle phalanx of toe

Synonym:

Short middle bones (feet); Short middle phalanges of toes

Definition:

Developmental hypoplasia (shortening) of middle phalanx of toe.

Comments:

Reference:

HP:0003795

Genes and Diseases:

Child Nodes:

........

Shortening of all middle phalanges of the toes (HP:0006239)

........

2nd-5th toe middle phalangeal hypoplasia (HP:0008083)

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 proximal phalanx of toe (HP:0011928)

Shortening of all phalanges of the toes (HP:0005035)

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:0003795	HP:0003795	Short middle phalanx of toe	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0003795	HP:0003795	Short middle phalanx of toe	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0003795	HP:0003795	Short middle phalanx of toe	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0003795	HP:0003795	Short middle phalanx of toe	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0003795	HP:0003795	Short middle phalanx of toe	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0003795	HP:0003795	Short middle phalanx of toe	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0003795	HP:0008083	2nd-5th toe middle phalangeal hypoplasia	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0003795	HP:0006239	Shortening of all middle phalanges of the toes	1	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214

Genes (5) :FGFR1 FGFR2 FGFR3 HOXD13 TRPV4

Diseases (5) :OMIM:101600 OMIM:602849 OMIM:186000 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.