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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of limbs (HP:0040064)

..Starting node
..Autoamputation (HP:0001218)

Term ID:

1218

Name:

Autoamputation

Synonym:

Definition:

Spontaneous detachment (amputation) of an appendage from the body.

Comments:

Reference:

HP:0001218

Genes and Diseases:

Child Nodes:

........

Autoamputation of foot (HP:0001868)

................... HP:0001862 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)

........

Autoamputation of digits (HP:0007460)

................... HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits
................... HP:0006121 Acral ulceration leading to autoamputation of digits

Sister Nodes:

Abnormality of limb bone (HP:0040068)

Abnormality of the lower limb (HP:0002814)

Abnormality of the musculature of the limbs (HP:0009127)

Abnormality of the upper limb (HP:0002817)

Aplasia/hypoplasia of the extremities (HP:0009815)

Hemihypertrophy (HP:0001528)

Limb fasciculations (HP:0007289)

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:0001218	HP:0001218	Autoamputation	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	.	71
HP:0001218	HP:0001218	Autoamputation	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0001218	HP:0001218	Autoamputation	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0001218	HP:0001218	Autoamputation	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans		199
HP:0001218	HP:0001218	Autoamputation	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0001218	HP:0001218	Autoamputation	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0001218	HP:0001218	Autoamputation	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0001218	HP:0001218	Autoamputation	0	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin		100
HP:0001218	HP:0001218	Autoamputation	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001218	HP:0001218	Autoamputation	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0001218	HP:0001218	Autoamputation	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0001218	HP:0001218	Autoamputation	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0001218	HP:0001218	Autoamputation	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0001218	HP:0001218	Autoamputation	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0001218	HP:0001218	Autoamputation	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0001218	HP:0001218	Autoamputation	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0001218	HP:0001218	Autoamputation	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0001218	HP:0001218	Autoamputation	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.	149
HP:0001218	HP:0001218	Autoamputation	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis		98
HP:0001218	HP:0001218	Autoamputation	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0001218	HP:0001218	Autoamputation	0	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0001218	HP:0001218	Autoamputation	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0001218	HP:0007460	Autoamputation of digits	1	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID		71
HP:0001218	HP:0007460	Autoamputation of digits	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0001218	HP:0007460	Autoamputation of digits	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0001218	HP:0007460	Autoamputation of digits	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent	199
HP:0001218	HP:0007460	Autoamputation of digits	1	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0001218	HP:0007460	Autoamputation of digits	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0001218	HP:0007460	Autoamputation of digits	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0001218	HP:0007460	Autoamputation of digits	1	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin	HP:0040283 - Occasional	100
HP:0001218	HP:0007460	Autoamputation of digits	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001218	HP:0007460	Autoamputation of digits	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0001218	HP:0007460	Autoamputation of digits	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0001218	HP:0001868	Autoamputation of foot	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0001218	HP:0007460	Autoamputation of digits	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0001218	HP:0007460	Autoamputation of digits	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0001218	HP:0007460	Autoamputation of digits	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0001218	HP:0007460	Autoamputation of digits	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0001218	HP:0001868	Autoamputation of foot	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54
HP:0001218	HP:0007460	Autoamputation of digits	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0001218	HP:0007460	Autoamputation of digits	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040282 - Frequent	98
HP:0001218	HP:0007460	Autoamputation of digits	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0001218	HP:0007460	Autoamputation of digits	1	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0001218	HP:0007460	Autoamputation of digits	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0001218	HP:0006121	Acral ulceration	2	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040283 - Occasional	56
HP:0001218	HP:0006121	Acral ulceration	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0001218	HP:0006121	Acral ulceration	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0001218	HP:0006121	Acral ulceration	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0001218	HP:0006121	Acral ulceration	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001218	HP:0006121	Acral ulceration	2	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0001218	HP:0006121	Acral ulceration	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0001218	HP:0006121	Acral ulceration	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0001218	HP:0006121	Acral ulceration	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0001218	HP:0006121	Acral ulceration	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0001218	HP:0006121	Acral ulceration	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0001218	HP:0006121	Acral ulceration	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199

Genes (18) :ATL1 CCT5 GJB2 KIF1A KRT1 MPV17 NGF NTRK1 RAB7A RETREG1 SCN9A SLURP1 SPTLC1 SPTLC2 TGM1 TREX1 VPS33B WNK1

Diseases (19) :OMIM:613708 ORPHA:139578 OMIM:256840 ORPHA:494 OMIM:124500 OMIM:201300 OMIM:614213 ORPHA:79503 OMIM:256810 OMIM:608654 OMIM:256800 OMIM:600882 OMIM:613115 ORPHA:87503 OMIM:162400 OMIM:613640 ORPHA:100976 OMIM:610448 OMIM:620009

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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