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 phalanges of the toes (HP:0010161)

Grandparent Node:
Osteolysis involving bones of the feet (HP:0009134)

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

..Starting node
..Foot acroosteolysis (HP:0001842)

Term ID:

1842

Name:

Foot acroosteolysis

Synonym:

Acroosteolysis of feet

Definition:

Comments:

Reference:

HP:0001842

Genes and Diseases:

Child Nodes:

........

Acroosteolysis of distal phalanges (feet) (HP:0001870)

Sister Nodes:

Osteolytic defect of the proximal toe phalanx (HP:0010207)

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

Osteolytic defects of the middle phalanges of the toes (HP:0010198)

Osteolytic defects of the phalanges of the 2nd toe (HP:0010351)

Osteolytic defects of the phalanges of the 3rd toe (HP:0010363)

Osteolytic defects of the phalanges of the 4th toe (HP:0010375)

Osteolytic defects of the phalanges of the 5th toe (HP:0010387)

Osteolytic defects of the phalanges of the hallux (HP:0010062)

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:0001842	HP:0001842	Foot acroosteolysis	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0001842	HP:0001842	Foot acroosteolysis	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	276
HP:0001842	HP:0001842	Foot acroosteolysis	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0001842	HP:0001842	Foot acroosteolysis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0001842	HP:0001842	Foot acroosteolysis	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0001842	HP:0001842	Foot acroosteolysis	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0001842	HP:0001842	Foot acroosteolysis	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0001842	HP:0001842	Foot acroosteolysis	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0001842	HP:0001842	Foot acroosteolysis	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	54
HP:0001842	HP:0001842	Foot acroosteolysis	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0001842	HP:0001842	Foot acroosteolysis	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	318
HP:0001842	HP:0001842	Foot acroosteolysis	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0001842	HP:0001842	Foot acroosteolysis	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	199
HP:0001842	HP:0001842	Foot acroosteolysis	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0001842	HP:0001842	Foot acroosteolysis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0001842	HP:0001842	Foot acroosteolysis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0001842	HP:0001870	Acroosteolysis of distal phalanges (feet)	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0001842	HP:0001870	Acroosteolysis of distal phalanges (feet)	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0001842	HP:0001870	Acroosteolysis of distal phalanges (feet)	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0001842	HP:0001870	Acroosteolysis of distal phalanges (feet)	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0001842	HP:0001870	Acroosteolysis of distal phalanges (feet)	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0001842	HP:0001870	Acroosteolysis of distal phalanges (feet)	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83

Genes (9) :COL3A1 KIF1A LMNA MTX2 NOTCH2 RETREG1 SCN9A WNK1 ZMPSTE24

Diseases (9) :OMIM:130050 ORPHA:970 OMIM:201300 ORPHA:280365 OMIM:248370 ORPHA:90153 OMIM:102500 ORPHA:90154 OMIM:608612

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

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