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 calvaria morphology (HP:0002683)

Grandparent Node:
Decreased skull ossification (HP:0004331)

Parent Node:
Decreased calvarial ossification (HP:0005474)

..Starting node
..Absent ossification of calvaria (HP:0005623)

Term ID:

5623

Name:

Absent ossification of calvaria

Synonym:

Absent bone maturation of skullcap; Absent ossification of skull vault

Definition:

Absent ossification of the calvaria (vault of the skull).

Comments:

Reference:

HP:0005623

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005623	HP:0005623	Absent ossification of calvaria	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	373
HP:0005623	HP:0005623	Absent ossification of calvaria	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	243

Genes (2) :COL1A1 COL1A2

Diseases (1) :OMIM:166210

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