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:
Carpal synostosis (HP:0009702)

Parent Node:
Metacarpal synostosis (HP:0009701)

..Starting node
..Carpometacarpal synostosis (HP:0100328)

Term ID:

100328

Name:

Carpometacarpal synostosis

Synonym:

Fused wrist bones and long bones of hand

Definition:

Fusion involving carpal and metacarpal bones.

Comments:

Reference:

HP:0100328

Genes and Diseases:

Child Nodes:

........

Synostosis of second metacarpal-trapezoid (HP:0004293)

Sister Nodes:

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 4th metacarpal (HP:0009707)

Synostosis involving the 5th metacarpal (HP:0009708)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100328	HP:0100328	Carpometacarpal synostosis	0	CL E G H
HP:0100328	HP:0004293	Synostosis of second metacarpal-trapezoid	1	CL E G H

Genes (0) :

Diseases (0) :

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