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:
Metacarpal synostosis (HP:0009701)

Parent Node:
Synostosis involving the 4th metacarpal (HP:0009707)

..Starting node
..4-5 metacarpal synostosis (HP:0005867)

Term ID:

5867

Name:

4-5 metacarpal synostosis

Synonym:

Fused 4th-5th long bones of hand; Fused 4th-5th metacarpals; Fused fourth and fifth metacarpals; Ring finger and little finger metacarpal synostosis; Synostosis of the fourth and fifth metacarpal bones

Definition:

Comments:

Reference:

HP:0005867

Genes and Diseases:

Child Nodes:

Sister Nodes:

Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal (HP:0009478)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005867	HP:0005867	4-5 metacarpal synostosis	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	4
HP:0005867	HP:0005867	4-5 metacarpal synostosis	0	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion	3
HP:0005867	HP:0005867	4-5 metacarpal synostosis	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	25
HP:0005867	HP:0005867	4-5 metacarpal synostosis	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	15

Genes (4) :EIF4A3 FGF16 HOXD13 SMOC1

Diseases (4) :OMIM:268305 OMIM:309630 OMIM:186300 OMIM:206920

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

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