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/Hypoplasia of the middle phalanges of the hand (HP:0009843)

Grandparent Node:
Short finger (HP:0009381)

Grandparent Node:
Short phalanx of finger (HP:0009803)

Parent Node:
Aplasia/Hypoplasia of the middle phalanx of the 3rd finger (HP:0009437)

Parent Node:
Short 3rd finger (HP:0009461)

Parent Node:
Short middle phalanx of finger (HP:0005819)

..Starting node
..Short middle phalanx of the 3rd finger (HP:0009439)

Term ID:

9439

Name:

Short middle phalanx of the 3rd finger

Synonym:

Brachymesophalangy III (finger); Hypoplastic/small middle phalanx of the 3rd finger; Short middle bone of middle finger

Definition:

Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.

Comments:

Reference:

HP:0009439

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short middle phalanx of the 2nd finger (HP:0009577)

Short middle phalanx of the 4th finger (HP:0009295)

Short middle phalanx of the 5th finger (HP:0004220)

Short proximal phalanx of thumb (HP:0009638)

Shortening of all middle phalanges of the fingers (HP:0006110)

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:0009439	HP:0009439	Short middle phalanx of the 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C	52
HP:0009439	HP:0009439	Short middle phalanx of the 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	52

Genes (1) :GDF5

Diseases (2) :OMIM:615072 OMIM:113100

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