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 involving bones of the lower limbs (HP:0009817)

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

Parent Node:
Aplasia of the phalanges of the toes (HP:0010745)

..Starting node
..Aplasia of the middle phalanges of the toes (HP:0100387)

Term ID:

100387

Name:

Aplasia of the middle phalanges of the toes

Synonym:

Absent middle toe bones

Definition:

Comments:

Reference:

HP:0100387

Genes and Diseases:

Child Nodes:

........

Absent middle phalanx of the 3rd toe (HP:0100381)

........

Aplasia of the middle phalanx of the 4th toe (HP:0100382)

........

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

Sister Nodes:

Aphalangy of hands and feet (HP:0200113)

Aplasia of the distal phalanges of the toes (HP:0010645)

Aplasia of the phalanges of the 2nd toe (HP:0010430)

Aplasia of the phalanges of the 3rd toe (HP:0100362)

Aplasia of the phalanges of the 4th toe (HP:0100363)

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

Aplasia of the phalanges of the hallux (HP:0010110)

Aplasia of the proximal phalanges of the toes (HP:0100388)

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:0100387	HP:0100387	Aplasia of the middle phalanges of the toes	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	90
HP:0100387	HP:0100387	Aplasia of the middle phalanges of the toes	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0100387	HP:0100387	Aplasia of the middle phalanges of the toes	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	52
HP:0100387	HP:0100383	Aplasia of the middle phalanx of the 5th toe	1	CL E G H
HP:0100387	HP:0100381	Absent middle phalanx of the 3rd toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0100387	HP:0100382	Aplasia of the middle phalanx of the 4th toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4

Genes (3) :BMPR1B EOGT GDF5

Diseases (2) :ORPHA:2098 OMIM:615297

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