Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

ainhum

Synonyms

Dactylolysis spontanea

Definitions

A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_11329

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2022_09_01:51404004

NCI:C84544

MESH:D000387

OMIM:103400

ICD10CM:L94.6

GARD:9512

UMLS_CUI:C0001860

ICD9CM:136.0

definition

A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.

has exact match

MESH:D000387

has exact synonym

Dactylolysis spontanea

has_obo_namespace

disease_ontology

id

DOID:11329

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

ainhum

notation

DOID:11329

prefLabel

ainhum

subClassOf

http://purl.obolibrary.org/obo/DOID_65

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