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 musculoskeletal physiology (HP:0011843)

Parent Node:
Abnormality of skeletal maturation (HP:0000927)

..Starting node
..Dysharmonic bone age (HP:0200000)

Term ID:

200000

Name:

Dysharmonic bone age

Synonym:

Dysharmonic skeletal maturation

Definition:

Different levels of maturation of different bones.

Comments:

Reference:

HP:0200000

Genes and Diseases:

Child Nodes:

........

Dysharmonic delayed bone age (HP:0005832)

........

Dysharmonic accelerated bone age (HP:0200001)

Sister Nodes:

Accelerated skeletal maturation (HP:0005616)

Delayed skeletal maturation (HP:0002750)

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:0200000	HP:0200000	Dysharmonic bone age	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0200000	HP:0200000	Dysharmonic bone age	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0200000	HP:0200001	Dysharmonic accelerated bone age	1	CL E G H
HP:0200000	HP:0005832	Dysharmonic delayed bone age	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA

Genes (2) :CENPT EZH2

Diseases (2) :OMIM:618702 OMIM:277590

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