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 3rd toe (HP:0010320)

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

Parent Node:
Abnormality of the middle phalanges of the toes (HP:0010183)

Parent Node:
Abnormality of the phalanges of the 3rd toe (HP:0010330)

..Starting node
..Abnormality of the middle phalanx of the 3rd toe (HP:0010369)

Term ID:

10369

Name:

Abnormality of the middle phalanx of the 3rd toe

Synonym:

Abnormality of the middle bone of 3rd toe

Definition:

Comments:

Reference:

HP:0010369

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the middle phalanx of the 3rd toe (HP:0100372)

................... HP:0100381 Absent middle phalanx of the 3rd toe
................... HP:0100392 Short middle phalanx of the 3rd toe

........

Duplication of the middle phalanx of the 3rd toe (HP:0100401)

................... HP:0100410 Complete duplication of the middle phalanx of the 3rd toe
................... HP:0100419 Partial duplication of the middle phalanx of the 3rd toe

........

Broad middle phalanx of the 3rd toe (HP:0100425)

........

Curved middle phalanx of the 3rd toe (HP:0100443)

Sister Nodes:

Abnormal morphology of the proximal phalanx of the 3rd toe (HP:0010370)

Abnormality of the distal phalanx of the 3rd toe (HP:0010368)

Aplasia/Hypoplasia of the phalanges of the 3rd toe (HP:0010359)

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

Bullet-shaped 3rd toe phalanx (HP:0010361)

Curved 3rd toe phalanx (HP:0010362)

Duplication of phalanx of the 3rd toe (HP:0010367)

Osteolytic defects of the phalanges of the 3rd toe (HP:0010363)

Patchy sclerosis of 3rd toe phalanx (HP:0010364)

Symphalangism affecting the phalanges of the 3rd toe (HP:0010365)

Triangular shaped phalanges of the 3rd toe (HP:0010366)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010369	HP:0010369	Abnormality of the middle phalanx of the 3rd toe	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	4
HP:0010369	HP:0100401	Duplication of the middle phalanx of the 3rd toe	1	CL E G H
HP:0010369	HP:0041186	Fractured middle phalanx of pedal digit 3	1	CL E G H
HP:0010369	HP:0100443	Curved middle phalanx of the 3rd toe	1	CL E G H
HP:0010369	HP:0100425	Broad middle phalanx of the 3rd toe	1	CL E G H
HP:0010369	HP:0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	4
HP:0010369	HP:0100410	Complete duplication of the middle phalanx of the 3rd toe	2	CL E G H
HP:0010369	HP:0100392	Short middle phalanx of the 3rd toe	2	CL E G H
HP:0010369	HP:0100419	Partial duplication of the middle phalanx of the 3rd toe	2	CL E G H
HP:0010369	HP:0100381	Absent middle phalanx of the 3rd toe	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	4

Genes (1) :EOGT

Diseases (1) :OMIM:615297

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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