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:
Abnormality of the distal phalanges of the toes (HP:0010182)

Grandparent Node:
Osteolytic defects of the phalanges of the toes (HP:0010177)

Parent Node:
Foot acroosteolysis (HP:0001842)

Parent Node:
Osteolytic defects of the distal phalanges of the toes (HP:0010189)

..Starting node
..Acroosteolysis of distal phalanges (feet) (HP:0001870)

Term ID:

1870

Name:

Acroosteolysis of distal phalanges (feet)

Synonym:

Acroosteolysis of distal phalanges of feet

Definition:

Comments:

Reference:

HP:0001870

Genes and Diseases:

Child Nodes:

Sister Nodes:

Osteolytic defects of the distal phalanx of the hallux (HP:0010080)

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:0001870	HP:0001870	Acroosteolysis of distal phalanges (feet)	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0001870	HP:0001870	Acroosteolysis of distal phalanges (feet)	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0001870	HP:0001870	Acroosteolysis of distal phalanges (feet)	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0001870	HP:0001870	Acroosteolysis of distal phalanges (feet)	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0001870	HP:0001870	Acroosteolysis of distal phalanges (feet)	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0001870	HP:0001870	Acroosteolysis of distal phalanges (feet)	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83

Genes (3) :LMNA MTX2 ZMPSTE24

Diseases (5) :ORPHA:280365 OMIM:248370 ORPHA:90153 OMIM:608612 ORPHA:90154

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