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 joint morphology (HP:0001367)

Parent Node:
Arthropathy (HP:0003040)

..Starting node
..Neuropathic arthropathy (HP:0002821)

Term ID:

2821

Name:

Neuropathic arthropathy

Synonym:

Charcot arthropathy; Charcot joint

Definition:

Comments:

Reference:

HP:0002821

Genes and Diseases:

Child Nodes:

Sister Nodes:

Polyarticular arthropathy (HP:0005195)

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:0002821	HP:0002821	Neuropathic arthropathy	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	71
HP:0002821	HP:0002821	Neuropathic arthropathy	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	5
HP:0002821	HP:0002821	Neuropathic arthropathy	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0002821	HP:0002821	Neuropathic arthropathy	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0002821	HP:0002821	Neuropathic arthropathy	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0002821	HP:0002821	Neuropathic arthropathy	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	54
HP:0002821	HP:0002821	Neuropathic arthropathy	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	149

Genes (6) :ATL1 ATL3 ELP1 NTRK1 SPTLC1 SPTLC2

Diseases (4) :ORPHA:36386 OMIM:223900 ORPHA:642 OMIM:256800

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