| Human Phenotype
Ontology
|
Grandparent Node:
 Localized skin lesion (HP:0011355) | Parent Node:
Autoamputation of digits (HP:0007460) | Parent Node:
Skin ulcer (HP:0200042) | ..Starting node
..Acral ulceration (HP:0006121)
|
| Term ID: |
6121 |
| Name: |
Acral ulceration |
| Synonym: |
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| Definition: |
A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. |
| Comments: |
|
| Reference: |
HP:0006121 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | ..obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits (HP:0001226)
| ..obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) (HP:0001862)
| ..Penetrating foot ulcers (HP:0001026)
| ..Pressure ulcer (HP:0012399)
| ..Pyoderma gangrenosum (HP:0025452)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | HP:0040283 - Occasional | | | 56 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | NGF CL E G H | 4803 | 7808 | OMIM:608654 | Neuropathy, hereditary sensory and autonomic, type V | | | | 20 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | | | HP:0006121 | HP:0006121 | Acral ulceration | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |
Genes (9) :CCT5 KIF1A MPV17 NGF NTRK1 RETREG1 SCN9A SPTLC1 WNK1
Diseases (9) :ORPHA:139578 OMIM:256840 OMIM:201300 OMIM:614213 OMIM:256810 OMIM:608654 OMIM:256800 OMIM:613115 OMIM:162400 |
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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