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 skeletal morphology (HP:0011842)

Parent Node:
Abnormal diaphysis morphology (HP:0000940)

Parent Node:
Skeletal dysplasia (HP:0002652)

..Starting node
..Diaphyseal dysplasia (HP:0100252)

Term ID:

100252

Name:

Diaphyseal dysplasia

Synonym:

Definition:

Comments:

Reference:

HP:0100252

Genes and Diseases:

Child Nodes:

Sister Nodes:

Epiphyseal dysplasia (HP:0002656)

Lethal skeletal dysplasia (HP:0005716)

Metaphyseal dysplasia (HP:0100255)

Multiple epiphyseal dysplasia (HP:0002654)

Multiple skeletal anomalies (HP:0005775)

Spondyloepimetaphyseal dysplasia (HP:0002651)

Spondyloepiphyseal dysplasia (HP:0002655)

Spondylometaphyseal dysplasia (HP:0002657)

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:0100252	HP:0100252	Diaphyseal dysplasia	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0100252	HP:0100252	Diaphyseal dysplasia	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	.	16
HP:0100252	HP:0100252	Diaphyseal dysplasia	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0100252	HP:0100252	Diaphyseal dysplasia	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI

Genes (4) :NF1 TBXAS1 TMEM165 TMEM53

Diseases (4) :ORPHA:97685 OMIM:231095 OMIM:614727 OMIM:619727

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