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:
Abnormality of the metacarpal bones (HP:0001163)

Parent Node:
Supernumerary metacarpal bones (HP:0005917)

..Starting node
..6 metacarpals (HP:0001501)

Term ID:

1501

Name:

6 metacarpals

Synonym:

6 long bones of hand

Definition:

Comments:

Reference:

HP:0001501

Genes and Diseases:

Child Nodes:

Sister Nodes:

Double first metacarpals (HP:0005894)

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:0001501	HP:0001501	6 metacarpals	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0001501	HP:0001501	6 metacarpals	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	106
HP:0001501	HP:0001501	6 metacarpals	0	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV	.	106
HP:0001501	HP:0001501	6 metacarpals	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	67

Genes (3) :HOXD13 LMBR1 SHH

Diseases (3) :OMIM:186000 ORPHA:93405 OMIM:186200

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