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:
Abnormal 2nd metacarpal morphology (HP:0010010)

..Starting node
..Abnormality of the epiphysis of the 2nd metacarpal (HP:0010220)

Term ID:

10220

Name:

Abnormality of the epiphysis of the 2nd metacarpal

Synonym:

Abnormality of the end part of the 2nd long bone of hand

Definition:

Any abnormality of the epiphysis of the second metacarpal bone.

Comments:

Reference:

HP:0010220

Genes and Diseases:

Child Nodes:

........

Pseudoepiphysis of the 2nd metacarpal (HP:0010221)

Sister Nodes:

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

Synostosis involving the 2nd metacarpal (HP:0009705)

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:0010220	HP:0010220	Abnormality of the epiphysis of the 2nd metacarpal	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010220	HP:0041190	Fractured epiphysis of second metacarpal bone	1	CL E G H
HP:0010220	HP:0006179	Pseudoepiphyses of second metacarpal	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124

Genes (1) :SALL1

Diseases (1) :OMIM:107480

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