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 bone structure (HP:0003330)

Parent Node:
Abnormal clavicle morphology (HP:0000889)

Parent Node:
Osteolysis (HP:0002797)

..Starting node
..Progressive clavicular acroosteolysis (HP:0000905)

Term ID:

905

Name:

Progressive clavicular acroosteolysis

Synonym:

Progressive acroosteolysis of the clavicle

Definition:

Progressive bone resorption in the distal part of the clavicle.

Comments:

Reference:

HP:0000905

Genes and Diseases:

Child Nodes:

Sister Nodes:

Osteolysis involving bones of the lower limbs (HP:0009139)

Osteolysis involving bones of the upper limbs (HP:0045039)

Patchy reduction of bone mineral density (HP:0010657)

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:0000905	HP:0000905	Progressive clavicular acroosteolysis	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0000905	HP:0000905	Progressive clavicular acroosteolysis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000905	HP:0000905	Progressive clavicular acroosteolysis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0000905	HP:0000905	Progressive clavicular acroosteolysis	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000905	HP:0000905	Progressive clavicular acroosteolysis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0000905	HP:0000905	Progressive clavicular acroosteolysis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83

Genes (3) :BANF1 LMNA ZMPSTE24

Diseases (5) :OMIM:614008 ORPHA:79474 ORPHA:740 OMIM:248370 OMIM:608612

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