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 middle phalanx of the 3rd finger (HP:0004172)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the 3rd finger (HP:0009447)

Parent Node:
Aplasia of the 3rd finger (HP:0009460)

Parent Node:
Aplasia of the middle phalanx of the hand (HP:0010239)

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

..Starting node
..Absent middle phalanx of 3rd finger (HP:0009438)

Term ID:

9438

Name:

Absent middle phalanx of 3rd finger

Synonym:

Absent middle bone of middle finger; Absent middle phalanx of middle finger; Aplasia of the middle phalanx of the 3rd finger

Definition:

Absence of the middle phalanx of the middle (3rd) finger.

Comments:

Reference:

HP:0009438

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0009438	HP:0009438	Absent middle phalanx of 3rd finger	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	34

Genes (1) :NSDHL

Diseases (1) :OMIM:308050

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