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 metaphysis morphology (HP:0000944)

Parent Node:
Metaphyseal irregularity (HP:0003025)

..Starting node
..Irregular, rachitic-like metaphyses (HP:0005042)

Term ID:

5042

Name:

Irregular, rachitic-like metaphyses

Synonym:

Definition:

Comments:

Reference:

HP:0005042

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower-limb metaphyseal irregularity (HP:0030291)

Upper-limb metaphyseal irregularity (HP:0003850)

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:0005042	HP:0005042	Irregular, rachitic-like metaphyses	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0005042	HP:0005042	Irregular, rachitic-like metaphyses	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0005042	HP:0005042	Irregular, rachitic-like metaphyses	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214

Genes (3) :CYP27B1 CYP2R1 TRPV4

Diseases (2) :ORPHA:289157 OMIM:184252

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