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:
Abnormal foot morphology (HP:0001760)

Grandparent Node:
Abnormal lower limb bone morphology (HP:0040069)

Parent Node:
Duplication involving bones of the feet (HP:0009136)

..Starting node
..Bifid distal phalanx of toe (HP:0001853)

Term ID:

1853

Name:

Bifid distal phalanx of toe

Synonym:

Bifid distal phalanges of toes; Bifid terminal phalanx of toe; Notched outermost bones of toes

Definition:

Comments:

Reference:

HP:0001853

Genes and Diseases:

Child Nodes:

Sister Nodes:

Duplication of metatarsal bones (HP:0001449)

Foot polydactyly (HP:0001829)

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:0001853	HP:0001853	Bifid distal phalanx of toe	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0001853	HP:0001853	Bifid distal phalanx of toe	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0001853	HP:0001853	Bifid distal phalanx of toe	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0001853	HP:0001853	Bifid distal phalanx of toe	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98

Genes (4) :DVL1 PPP2R3C ROR2 WNT5A

Diseases (3) :OMIM:180700 OMIM:618419 OMIM:268310

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