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:
Abnormality of the distal phalanges of the toes (HP:0010182)

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

..Starting node
..Broad distal phalanx of the toes (HP:0010186)

Term ID:

10186

Name:

Broad distal phalanx of the toes

Synonym:

Broad outermost bone of the toe; Wide outermost bone of the toe

Definition:

Increased width of the distal phalanx of toe of one or more toes.

Comments:

Reference:

HP:0010186

Genes and Diseases:

Child Nodes:

........

Broad distal phalanx of the hallux (HP:0010077)

........

Broad distal phalanx of the 2nd toe (HP:0010414)

........

Broad distal phalanx of the 3rd toe (HP:0100431)

........

Broad distal phalanx of the 4th toe (HP:0100432)

........

Broad distal phalanx of the 5th toe (HP:0100433)

Sister Nodes:

Broad hallux phalanx (HP:0010059)

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:0010186	HP:0010186	Broad distal phalanx of the toes	0	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D		25
HP:0010186	HP:0010186	Broad distal phalanx of the toes	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010186	HP:0010186	Broad distal phalanx of the toes	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0010186	HP:0100433	Broad distal phalanx of the 5th toe	1	CL E G H
HP:0010186	HP:0100432	Broad distal phalanx of the 4th toe	1	CL E G H
HP:0010186	HP:0100431	Broad distal phalanx of the 3rd toe	1	CL E G H
HP:0010186	HP:0010414	Broad distal phalanx of the 2nd toe	1	CL E G H
HP:0010186	HP:0010077	Broad distal phalanx of the hallux	1	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D	.	25

Genes (3) :HOXD13 HS2ST1 MED25

Diseases (3) :OMIM:113200 OMIM:619194 ORPHA:464738

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.