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 metacarpal morphology (HP:0010012)

Grandparent Node:
Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)

Parent Node:
Aplasia of metacarpal bones (HP:0010048)

Parent Node:
Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)

..Starting node
..Aplasia of the 4th metacarpal (HP:0010043)

Term ID:

10043

Name:

Aplasia of the 4th metacarpal

Synonym:

Absent 4th long bone of hand

Definition:

Absence of the fourth long bone of the hand.

Comments:

Reference:

HP:0010043

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short 4th metacarpal (HP:0010044)

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:0010043	HP:0010043	Aplasia of the 4th metacarpal	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0010043	HP:0010043	Aplasia of the 4th metacarpal	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100

Genes (2) :GLI3 TBX3

Diseases (2) :ORPHA:93322 OMIM:181450

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