WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070154 hereditary sensory neuropathy type 1F Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.

1 Ontology

Name
Disease Ontology

12 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:870 neuropathy A nervous system disease that is located_in nerves or nerve cells.
DOID:0050548 hereditary sensory neuropathy A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
DOID:0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.
DOID:0070154 hereditary sensory neuropathy type 1F A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0070154
is_a DOID:0070162 DOID:0070154
is_a DOID:863 DOID:0070154
is_a DOID:7 DOID:0070154
is_a DOID:630 DOID:0070154
is_a DOID:0050548 DOID:0070154
is_a DOID:4 DOID:0070154
is_a DOID:574 DOID:0070154
is_a DOID:870 DOID:0070154
is_a DOID:0050739 DOID:0070154
is_a DOID:0050177 DOID:0070154

2 Synonyms

Name Type
hereditary sensory neuropathy type IF synonym
HSN1F synonym