Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 proximal phalanx of the 2nd finger (HP:0009544)

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 proximal phalanges of the hand (HP:0010242)

Parent Node:
Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger (HP:0009580)

..Starting node
..Aplasia of the proximal phalanx of the 2nd finger (HP:0009596)

Term ID:

9596

Name:

Aplasia of the proximal phalanx of the 2nd finger

Synonym:

Absent innermost bone of index finger

Definition:

Absence of the proximal phalanx of the 2nd finger.

Comments:

Reference:

HP:0009596

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short proximal phalanx of the 2nd finger (HP:0009597)

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:0009596	HP:0009596	Aplasia of the proximal phalanx of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	90

Genes (1) :BMPR1B

Diseases (1) :OMIM:609441

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