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 cupping (HP:0003021)

..Starting node
..Metaphyseal cupping of proximal phalanges (HP:0006208)

Term ID:

6208

Name:

Metaphyseal cupping of proximal phalanges

Synonym:

Definition:

Metaphyseal cupping affecting the proximal phalanges.

Comments:

Reference:

HP:0006208

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cupped metaphyses of the upper limbs (HP:0003848)

Metaphyseal cupping of metacarpals (HP:0006028)

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:0006208	HP:0006208	Metaphyseal cupping of proximal phalanges	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0006208	HP:0006208	Metaphyseal cupping of proximal phalanges	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0006208	HP:0006208	Metaphyseal cupping of proximal phalanges	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2

Genes (2) :COL10A1 HDAC6

Diseases (3) :OMIM:156500 ORPHA:174 OMIM:300863

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