Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limbs (HP:0040064)help
Parent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Autoamputation (HP:0001218)help
..Starting node
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Autoamputation of digits (HP:0007460)help
Term ID: 7460
Name: Autoamputation of digits
Synonym:
Definition:
Comments:
Reference: HP:0007460
Genes and Diseases:
 
       Child Nodes:
........expandAcral ulceration and osteomyelitis leading to autoamputation of digits (HP:0001226) help
........expandAcral ulceration leading to autoamputation of digits (HP:0006121) help

 Sister Nodes: 
..expandAutoamputation of foot (HP:0001868) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007460HP:0007460Autoamputation of digits0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID71
HP:0007460HP:0007460Autoamputation of digits0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0007460HP:0007460Autoamputation of digits0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0007460HP:0007460Autoamputation of digits0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040281 - Very frequent199
HP:0007460HP:0007460Autoamputation of digits0GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0007460HP:0007460Autoamputation of digits0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0007460HP:0007460Autoamputation of digits0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0007460HP:0007460Autoamputation of digits0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-MacklinHP:0040283 - Occasional100
HP:0007460HP:0007460Autoamputation of digits0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0007460HP:0007460Autoamputation of digits0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0007460HP:0007460Autoamputation of digits0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0007460HP:0007460Autoamputation of digits0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0007460HP:0007460Autoamputation of digits0RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB.54
HP:0007460HP:0007460Autoamputation of digits0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0007460HP:0007460Autoamputation of digits0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0007460HP:0007460Autoamputation of digits0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0007460HP:0007460Autoamputation of digits0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040282 - Frequent98
HP:0007460HP:0007460Autoamputation of digits0TREX1 CL E G H1127712269OMIM:610448Chilblain lupus 156
HP:0007460HP:0007460Autoamputation of digits0VPS33B CL E G H2627612712OMIM:62000963
HP:0007460HP:0007460Autoamputation of digits0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0007460HP:0006121Acral ulceration1CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040283 - Occasional56
HP:0007460HP:0006121Acral ulceration1CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0007460HP:0006121Acral ulceration1KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0007460HP:0006121Acral ulceration1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0007460HP:0006121Acral ulceration1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0007460HP:0006121Acral ulceration1NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0007460HP:0006121Acral ulceration1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0007460HP:0006121Acral ulceration1RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0007460HP:0006121Acral ulceration1RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB.54
HP:0007460HP:0006121Acral ulceration1SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0007460HP:0006121Acral ulceration1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0007460HP:0006121Acral ulceration1WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199


Genes (16) :ATL1 CCT5 GJB2 KIF1A KRT1 MPV17 NGF NTRK1 RETREG1 SCN9A SPTLC1 SPTLC2 TGM1 TREX1 VPS33B WNK1

Diseases (17) :OMIM:613708 ORPHA:139578 OMIM:256840 ORPHA:494 OMIM:124500 OMIM:201300 OMIM:614213 ORPHA:79503 OMIM:256810 OMIM:608654 OMIM:256800 OMIM:613115 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.