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 distal phalanx morphology of finger (HP:0009832)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)

Parent Node:
Aplasia of the fingers (HP:0009380)

Parent Node:
Aplasia of the phalanges of the hand (HP:0009802)

Parent Node:
Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)

..Starting node
..Aplasia of the distal phalanges of the hand (HP:0009881)

Term ID:

9881

Name:

Aplasia of the distal phalanges of the hand

Synonym:

Absent distal phalanges of the hand; Absent outermost hand bone; Aplasia of outermost hand bone

Definition:

Comments:

Reference:

HP:0009881

Genes and Diseases:

Child Nodes:

........

Aplasia of the distal phalanx of the 5th finger (HP:0009246)

........

Aplasia of the distal phalanx of the 4th finger (HP:0009291)

........

Aplasia of the distal phalanx of the 3rd finger (HP:0009429)

........

Aplasia of the distal phalanx of the 2nd finger (HP:0009565)

........

Aplasia of the distal phalanx of the thumb (HP:0009649)

Sister Nodes:

Absent distal phalanges (HP:0005807)

Short distal phalanx of finger (HP:0009882)

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:0009881	HP:0009881	Aplasia of the distal phalanges of the hand	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009881	HP:0009881	Aplasia of the distal phalanges of the hand	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0009881	HP:0009881	Aplasia of the distal phalanges of the hand	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009881	HP:0009881	Aplasia of the distal phalanges of the hand	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6
HP:0009881	HP:0009649	Aplasia of the distal phalanx of the thumb	1	CL E G H
HP:0009881	HP:0009291	Aplasia of the distal phalanx of the 4th finger	1	CL E G H
HP:0009881	HP:0009246	Aplasia of the distal phalanx of the 5th finger	1	CL E G H
HP:0009881	HP:0009565	Aplasia of the distal phalanx of the 2nd finger	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009881	HP:0009565	Aplasia of the distal phalanx of the 2nd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009881	HP:0009429	Aplasia of the distal phalanx of the 3rd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34

Genes (3) :FIG4 NSDHL VAC14

Diseases (3) :OMIM:216340 ORPHA:3472 OMIM:308050

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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