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:
Abnormal 2nd metacarpal morphology (HP:0010010)

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

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

Parent Node:
Aplasia/Hypoplasia of the 2nd metacarpal (HP:0010036)

..Starting node
..Aplasia of the 2nd metacarpal (HP:0010037)

Term ID:

10037

Name:

Aplasia of the 2nd metacarpal

Synonym:

Absent 2nd long bone of hand

Definition:

Absence of the second long bone of the hand.

Comments:

Reference:

HP:0010037

Genes and Diseases:

Child Nodes:

Sister Nodes:

Long second metacarpal (HP:0006040)

Short 2nd metacarpal (HP:0010038)

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:0010037	HP:0010037	Aplasia of the 2nd metacarpal	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270

Genes (1) :GLI3

Diseases (1) :ORPHA:93322

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