Human Phenotype
Ontology
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Grandparent Node: Abnormality of limbs (HP:0040064) | Parent Node: Abnormality of the hand (HP:0001155) | Parent Node: Autoamputation (HP:0001218) | ..Starting node ..Autoamputation of digits (HP:0007460)
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Term ID: |
7460 |
Name: |
Autoamputation of digits |
Synonym: |
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Definition: |
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Comments: |
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Reference: |
HP:0007460 |
Genes and Diseases: | | Child Nodes: | ........Acral ulceration and osteomyelitis leading to autoamputation of digits (HP:0001226) | ........Acral ulceration leading to autoamputation of digits (HP:0006121) | Sister Nodes: | ..Autoamputation of foot (HP:0001868)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | | | | 71 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040281 - Very frequent | | | 199 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | HP:0040283 - Occasional | | | 100 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | NGF CL E G H | 4803 | 7808 | OMIM:608654 | Neuropathy, hereditary sensory and autonomic, type V | | | | 20 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040282 - Frequent | | | 98 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:610448 | Chilblain lupus 1 | | | | 56 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | | HP:0007460 | HP:0007460 | Autoamputation of digits | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | HP:0040283 - Occasional | | | 56 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | NGF CL E G H | 4803 | 7808 | OMIM:608654 | Neuropathy, hereditary sensory and autonomic, type V | | | | 20 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | | HP:0007460 | HP:0006121 | Acral ulceration | 1 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, 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.
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