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:
Abnormal hand bone ossification (HP:0010660)

Parent Node:
Abnormality of carpal bone ossification (HP:0006257)

..Starting node
..Two carpal ossification centers present at birth (HP:0006176)

Term ID:

6176

Name:

Two carpal ossification centers present at birth

Synonym:

Two carpal ossification centres present at birth

Definition:

Comments:

Reference:

HP:0006176

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal calcification of the carpal bones (HP:0009164)

Abnormal ossification of the trapezium (HP:0045001)

Abnormal ossification of the trapezoid bone (HP:0045004)

Absent trapezium (HP:0004253)

Advanced ossification of carpal bones (HP:0004233)

Delayed ossification of carpal bones (HP:0001216)

Multiple carpal ossification centers (HP:0006067)

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:0006176	HP:0006176	Two carpal ossification centers present at birth	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	73
HP:0006176	HP:0006176	Two carpal ossification centers present at birth	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1

Genes (2) :GPC3 GPC4

Diseases (1) :OMIM:312870

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