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 5th toe (HP:0010342)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)

Parent Node:
Abnormality of the middle phalanx of the 5th toe (HP:0010393)

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

Parent Node:
Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)

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

..Starting node
..Aplasia/Hypoplasia of the middle phalanx of the 5th toe (HP:0100374)

Term ID:

100374

Name:

Aplasia/Hypoplasia of the middle phalanx of the 5th toe

Synonym:

Absent/small middle 5th toe bone; Absent/underdeveloped middle bone of little toe; Absent/underdeveloped middle bone of pinkie toe; Absent/underdeveloped middle bone of pinky toe

Definition:

Comments:

Reference:

HP:0100374

Genes and Diseases:

Child Nodes:

........

Aplasia of the middle phalanx of the 5th toe (HP:0100383)

........

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

Sister Nodes:

Aplasia of the phalanges of the 5th toe (HP:0100364)

Aplasia/Hypoplasia of the distal phalanx of the 5th toe (HP:0100371)

Aplasia/hypoplasia of the proximal phalanx of the 5th toe (HP:0100377)

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

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:0100374	HP:0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0100374	HP:0100383	Aplasia of the middle phalanx of the 5th toe	1	CL E G H
HP:0100374	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 (1) :NOG

Diseases (1) :OMIM:186500

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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