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 metacarpal morphology (HP:0005916)

Grandparent Node:
Synostosis involving bones of the hand (HP:0004278)

Grandparent Node:
Synostosis of metacarpals/metatarsals (HP:0100265)

Parent Node:
Abnormal 4th metacarpal morphology (HP:0010012)

Parent Node:
Metacarpal synostosis (HP:0009701)

..Starting node
..Synostosis involving the 4th metacarpal (HP:0009707)

Term ID:

9707

Name:

Synostosis involving the 4th metacarpal

Synonym:

Fusion involving the 4th long bone of hand

Definition:

Comments:

Reference:

HP:0009707

Genes and Diseases:

Child Nodes:

........

Fused fourth and fifth metacarpals (HP:0005867)

........

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

Sister Nodes:

Carpometacarpal synostosis (HP:0100328)

Metacarpophalangeal synostosis (HP:0005880)

Synostosis involving the 1st metacarpal (HP:0009703)

Synostosis involving the 2nd metacarpal (HP:0009705)

Synostosis involving the 3rd metacarpal (HP:0009706)

Synostosis involving the 5th metacarpal (HP:0009708)

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:0009707	HP:0009707	Synostosis involving the 4th metacarpal	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	4
HP:0009707	HP:0009707	Synostosis involving the 4th metacarpal	0	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion	3
HP:0009707	HP:0009707	Synostosis involving the 4th metacarpal	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	25
HP:0009707	HP:0009707	Synostosis involving the 4th metacarpal	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	15
HP:0009707	HP:4000062	3-4 metacarpal synostosis	1	CL E G H
HP:0009707	HP:0009478	Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal	1	CL E G H
HP:0009707	HP:0005867	4-5 metacarpal synostosis	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	4
HP:0009707	HP:0005867	4-5 metacarpal synostosis	1	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion	3
HP:0009707	HP:0005867	4-5 metacarpal synostosis	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	25
HP:0009707	HP:0005867	4-5 metacarpal synostosis	1	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.