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 5th metacarpal morphology (HP:0010013)

..Starting node
..Fifth metacarpal with ulnar notch (HP:0005900)

Term ID:

5900

Name:

Fifth metacarpal with ulnar notch

Synonym:

Fifth metacarpal notched on ulnar side

Definition:

Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).

Comments:

Reference:

HP:0005900

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the epiphysis of the 5th metacarpal (HP:0010226)

Aplasia/Hypoplasia of the 5th metacarpal (HP:0010045)

Synostosis involving the 5th metacarpal (HP:0009708)

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:0005900	HP:0005900	Fifth metacarpal with ulnar notch	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0005900	HP:0005900	Fifth metacarpal with ulnar notch	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional	1361
HP:0005900	HP:0005900	Fifth metacarpal with ulnar notch	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional	12

Genes (2) :FBN1 LTBP3

Diseases (2) :OMIM:102370 ORPHA:969

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