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 4th finger phalanx morphology (HP:0009172)

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

Parent Node:
Abnormality of the distal phalanx of the 4th finger (HP:0009282)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the 4th finger (HP:0009408)

..Starting node
..Aplasia/Hypoplasia of the distal phalanx of the 4th finger (HP:0009289)

Term ID:

9289

Name:

Aplasia/Hypoplasia of the distal phalanx of the 4th finger

Synonym:

Absent/small outermost ring finger bone; Absent/underdeveloped outermost ring finger bone

Definition:

Comments:

Reference:

HP:0009289

Genes and Diseases:

Child Nodes:

........

Short distal phalanx of the 4th finger (HP:0009290)

........

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

Sister Nodes:

Aplasia/Hypoplasia of the middle phalanx of the 4th finger (HP:0009299)

Aplasia/Hypoplasia of the proximal phalanx of the 4th finger (HP:0009300)

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:0009289	HP:0009289	Aplasia/Hypoplasia of the distal phalanx of the 4th finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009289	HP:0009291	Aplasia of the distal phalanx of the 4th finger	1	CL E G H
HP:0009289	HP:0009290	Short distal phalanx of the 4th finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284

Genes (1) :COL2A1

Diseases (1) :OMIM:271700

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