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 the phalanges of the toes (HP:0010173)

Parent Node:
Aplasia/Hypoplasia of the 5th toe (HP:0010343)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the 5th toe (HP:0010383)

Parent Node:
Hypoplasia of the phalanges of the toes (HP:0010746)

..Starting node
..Short phalanx of the 5th toe (HP:0100368)

Term ID:

100368

Name:

Short phalanx of the 5th toe

Synonym:

Hypoplastic/small phalanges of the 5th toe; Short little toe bone; Short phalanx of the fifth toe; Short pinkie toe bone; Short pinky toe bone

Definition:

Developmental hypoplasia of one or more phalanx of little toe.

Comments:

Reference:

HP:0100368

Genes and Diseases:

Child Nodes:

........

Short distal phalanx of the 5th toe (HP:0100391)

........

Short middle phalanx of the 5th toe (HP:0100394)

........

Short proximal phalanx of the 5th toe (HP:0100397)

Sister Nodes:

Short phalanx of hallux (HP:0010111)

Short phalanx of the 2nd toe (HP:0010431)

Short phalanx of the 3rd toe (HP:0100366)

Short phalanx of the 4th toe (HP:0100367)

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:0100368	HP:0100368	Short phalanx of the 5th toe	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0100368	HP:0100368	Short phalanx of the 5th toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0100368	HP:0100397	Short proximal phalanx of the 5th toe	1	CL E G H
HP:0100368	HP:0100391	Short distal phalanx of the 5th toe	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0100368	HP:0100394	Short middle phalanx of the 5th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22

Genes (2) :ARID1B NOG

Diseases (2) :OMIM:135900 OMIM:186500

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