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 enchondral ossification (HP:0003336)

Grandparent Node:
Abnormality of the hand (HP:0001155)

Parent Node:
Abnormal hand bone ossification (HP:0010660)

..Starting node
..Irregular ossification of hand bones (HP:0004280)

Term ID:

4280

Name:

Irregular ossification of hand bones

Synonym:

Irregular maturation of hand bones

Definition:

Comments:

Reference:

HP:0004280

Genes and Diseases:

Child Nodes:

........

Stippled calcification of hand bones (HP:0004291)

Sister Nodes:

Abnormality of carpal bone ossification (HP:0006257)

Advanced ossification of the hand bones (HP:0004051)

Deficient ossification of hand bones (HP:0004274)

Delayed ossification of the hand bones (HP:0004052)

Dysharmonic maturation of the hand bones (HP:0004053)

Epiphyseal stippling of finger phalanges (HP:0010237)

Epiphyseal stippling of the metacarpals (HP:0009195)

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:0004280	HP:0004280	Irregular ossification of hand bones	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	665
HP:0004280	HP:0004280	Irregular ossification of hand bones	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	40
HP:0004280	HP:0004280	Irregular ossification of hand bones	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	124
HP:0004280	HP:0004291	Stippled calcification of hand bones	1	CL E G H

Genes (3) :PTCH1 PTCH2 SUFU

Diseases (1) :OMIM:109400

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