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 carpal morphology (HP:0001191)

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

Grandparent Node:
Synostosis of carpals/tarsals (HP:0100266)

Parent Node:
Carpal synostosis (HP:0009702)

..Starting node
..Partial fusion of proximal row of carpal bones (HP:0005694)

Term ID:

5694

Name:

Partial fusion of proximal row of carpal bones

Synonym:

Partial fusion of innermost row of wrist bones

Definition:

Comments:

Reference:

HP:0005694

Genes and Diseases:

Child Nodes:

Sister Nodes:

Capitate-hamate fusion (HP:0001241)

Carpometacarpal synostosis (HP:0100328)

Partial fusion of carpals (HP:0006207)

Synostosis of carpal bones (HP:0005048)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005694	HP:0005694	Partial fusion of proximal row of carpal bones	0	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.