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 distal phalanx of the 2nd finger (HP:0009542)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552)

Parent Node:
Aplasia of the 2nd finger (HP:0009535)

Parent Node:
Aplasia of the distal phalanges of the hand (HP:0009881)

Parent Node:
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger (HP:0009557)

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

Term ID:

9565

Name:

Aplasia of the distal phalanx of the 2nd finger

Synonym:

Absent outermost index finger bone; Absent terminal index finger phalanx

Definition:

Comments:

Reference:

HP:0009565

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of the 2nd finger (HP:0009566)

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:0009565	HP:0009565	Aplasia of the distal phalanx of the 2nd finger	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	111
HP:0009565	HP:0009565	Aplasia of the distal phalanx of the 2nd finger	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	34

Genes (2) :FIG4 NSDHL

Diseases (2) :OMIM:216340 OMIM:308050

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