Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 hand (HP:0001155)

Grandparent Node:
Abnormality of the wrist (HP:0003019)

Parent Node:
Abnormal carpal morphology (HP:0001191)

..Starting node
..Abnormality of the scaphoid (HP:0004243)

Term ID:

4243

Name:

Abnormality of the scaphoid

Synonym:

Definition:

Comments:

Reference:

HP:0004243

Genes and Diseases:

Child Nodes:

........

Accessory scaphoid (HP:0004244)

........

Comma-shaped scaphoid (HP:0004245)

........

Small scaphoid (HP:0004247)

........

Osteolysis of scaphoids (HP:0006202)

........

Abnormal ossification of the scaphoid (HP:0045003)

................... HP:0004246 Delayed ossification of the scaphoid

Sister Nodes:

Abnormality of carpal bone ossification (HP:0006257)

Abnormality of the capitate bone (HP:0004262)

Abnormality of the hamate bone (HP:0004259)

Abnormality of the lunate bone (HP:0004248)

Abnormality of the trapezium (HP:0004252)

Abnormality of the trapezoid bone (HP:0004256)

Abnormally shaped carpal bones (HP:0006014)

Accessory carpal bones (HP:0004232)

Aplasia/Hypoplasia involving the carpal bones (HP:0006502)

Carpal bone malsegmentation (HP:0005776)

Carpal osteolysis (HP:0001495)

Carpal synostosis (HP:0009702)

Crowded carpal bones (HP:0006180)

Malaligned carpal bone (HP:0006092)

Narrow carpal joint spaces (HP:0004264)

Proximally placed carpal bones (HP:0004239)

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:0004243	HP:0004243	Abnormality of the scaphoid	0	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	106
HP:0004243	HP:0004243	Abnormality of the scaphoid	0	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	67
HP:0004243	HP:0004244	Accessory scaphoid	1	CL E G H
HP:0004243	HP:0045003	Abnormal ossification of the scaphoid	1	CL E G H
HP:0004243	HP:0006202	Osteolysis of scaphoids	1	CL E G H
HP:0004243	HP:0004247	Small scaphoid	1	CL E G H
HP:0004243	HP:0004245	Comma-shaped scaphoid	1	CL E G H
HP:0004243	HP:0004246	Delayed ossification of the scaphoid	2	CL E G H

Genes (2) :LMBR1 SHH

Diseases (1) :ORPHA:93321

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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