Enum: ZygosityEnum

Zygosity categories from GENO

URI: dismech:ZygosityEnum

Permissible Values

Value	Meaning	Description
HETEROZYGOUS	GENO:0000135	Heterozygous
SIMPLE_HETEROZYGOUS	GENO:0000458	Simple heterozygous
COMPOUND_HETEROZYGOUS	GENO:0000402	Compound heterozygous
HOMOZYGOUS	GENO:0000136	Homozygous
HEMIZYGOUS	GENO:0000134	Hemizygous

Slots

Name	Description
zygosity	Zygosity context

Identifier and Mapping Information

Schema Source

• from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: ZygosityEnum
description: Zygosity categories from GENO
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  HETEROZYGOUS:
    text: HETEROZYGOUS
    description: Heterozygous
    meaning: GENO:0000135
  SIMPLE_HETEROZYGOUS:
    text: SIMPLE_HETEROZYGOUS
    description: Simple heterozygous
    meaning: GENO:0000458
  COMPOUND_HETEROZYGOUS:
    text: COMPOUND_HETEROZYGOUS
    description: Compound heterozygous
    meaning: GENO:0000402
  HOMOZYGOUS:
    text: HOMOZYGOUS
    description: Homozygous
    meaning: GENO:0000136
  HEMIZYGOUS:
    text: HEMIZYGOUS
    description: Hemizygous
    meaning: GENO:0000134