Enum: G2PAllelicRequirement
The genotype required at the locus for the disease to manifest, also referred to in G2P as the genotype. HPO mode of inheritance (MOI) terminology is used; G2P uses synonyms of the MOI terms as many of the disorders described are de novo.
The nine values are G2P's published genotype list, taken verbatim from the API the terminology page itself calls (GET /gene2phenotype/api/attribs/, key "genotype"), which includes the bare monoallelic_X alongside monoallelic_X_hemizygous and monoallelic_X_heterozygous.
All nine G2P genotype strings are recorded by HPO as oio:hasExactSynonym of the term mapped below (verified against the HPO release directly; note that the OLS obo_synonym field under-reports these, listing only synonyms that carry an xref). That exact-synonym correspondence is what makes these mappings unambiguous.
By convention in this enum, title is the HPO term label and the G2P string is carried as an alias, matching the pv-mapping guidance and clinical/genetics.yaml; consumers wanting G2P's own display string should read aliases.
URI: valuesets:G2PAllelicRequirement
Permissible Values
| Value | Title | Meaning | Description |
|---|---|---|---|
| MONOALLELIC_AUTOSOMAL | Autosomal dominant inheritance | HP:0000006 | Plausible disease-causing mutations on an autosomal chromosome identified on one allele in all or the vast majority of with specific disorder. |
| BIALLELIC_AUTOSOMAL | Autosomal recessive inheritance | HP:0000007 | Plausible disease-causing homozygous or compound heterozygous mutations identified on both alleles in the autosomal chromosome. |
| MONOALLELIC_X | X-linked inheritance | HP:0001417 | Plausible disease-causing mutations identified on the X chromosome. |
| MONOALLELIC_X_HEMIZYGOUS | X-linked recessive inheritance | HP:0001419 | Plausible disease-causing mutations identified on the X chromosome in a male as a cause of a specific disease, the disorder being predominantly recessive in female carriers. |
| MONOALLELIC_X_HETEROZYGOUS | X-linked dominant inheritance | HP:0001423 | Plausible disease-causing mutations identified in one copy of the X chromosome in females as a cause of a specific disease, include disorders where heterozygous females and hemizygous males are similarly affected e.g SMC1A mutations. |
| MONOALLELIC_Y_HEMIZYGOUS | Y-linked inheritance | HP:0001450 | Plausible disease-causing mutations identified in an allele found in the Y chromosome. The Y chromosome is passed from father to son as this mutation may affect only males. |
| MONOALLELIC_PAR | Pseudoautosomal dominant inheritance | HP:0034340 | Plausible disease-causing mutations identified in an allele found in the pseudoautosomal regions. Inheritance is not strictly sex-linked. |
| BIALLELIC_PAR | Pseudoautosomal recessive inheritance | HP:0034341 | Plausible disease-causing homozygous or compound heterozygous mutations identified on both alleles found in the pseudoautosomal regions. Inheritance is not strictly sex-linked. |
| MITOCHONDRIAL | Mitochondrial inheritance | HP:0001427 | Plausible disease-causing mutations identified on mitochondrial DNA where homoplasmy or heteroplasmy are associated with a specific disorder. |
Slots
| Name | Description |
|---|---|
| g2p_allelic_requirement | The genotype required at the locus for the disease to manifest |
Identifier and Mapping Information
Annotations
| property | value |
|---|---|
| stewards | https://www.ebi.ac.uk/gene2phenotype |
| publishers | https://www.ebi.ac.uk/gene2phenotype |
| source | https://www.ebi.ac.uk/gene2phenotype/about/terminology#allelic-requirement-section |
| standard | HPO mode of inheritance |
Schema Source
- from schema: https://w3id.org/valuesets
LinkML Source
name: G2PAllelicRequirement
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
stewards:
tag: stewards
value: https://www.ebi.ac.uk/gene2phenotype
publishers:
tag: publishers
value: https://www.ebi.ac.uk/gene2phenotype
source:
tag: source
value: https://www.ebi.ac.uk/gene2phenotype/about/terminology#allelic-requirement-section
standard:
tag: standard
value: HPO mode of inheritance
description: 'The genotype required at the locus for the disease to manifest, also
referred to in G2P as the genotype. HPO mode of inheritance (MOI) terminology is
used; G2P uses synonyms of the MOI terms as many of the disorders described are
de novo.
The nine values are G2P''s published genotype list, taken verbatim from the API
the terminology page itself calls (GET /gene2phenotype/api/attribs/, key "genotype"),
which includes the bare monoallelic_X alongside monoallelic_X_hemizygous and monoallelic_X_heterozygous.
All nine G2P genotype strings are recorded by HPO as oio:hasExactSynonym of the
term mapped below (verified against the HPO release directly; note that the OLS
obo_synonym field under-reports these, listing only synonyms that carry an xref).
That exact-synonym correspondence is what makes these mappings unambiguous.
By convention in this enum, title is the HPO term label and the G2P string is carried
as an alias, matching the pv-mapping guidance and clinical/genetics.yaml; consumers
wanting G2P''s own display string should read aliases.'
title: G2P Allelic Requirement
from_schema: https://w3id.org/valuesets
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
status: STANDARD
rank: 1000
permissible_values:
MONOALLELIC_AUTOSOMAL:
text: MONOALLELIC_AUTOSOMAL
description: Plausible disease-causing mutations on an autosomal chromosome identified
on one allele in all or the vast majority of with specific disorder.
meaning: HP:0000006
title: Autosomal dominant inheritance
aliases:
- monoallelic_autosomal
BIALLELIC_AUTOSOMAL:
text: BIALLELIC_AUTOSOMAL
description: Plausible disease-causing homozygous or compound heterozygous mutations
identified on both alleles in the autosomal chromosome.
meaning: HP:0000007
title: Autosomal recessive inheritance
aliases:
- biallelic_autosomal
MONOALLELIC_X:
text: MONOALLELIC_X
description: Plausible disease-causing mutations identified on the X chromosome.
meaning: HP:0001417
title: X-linked inheritance
aliases:
- monoallelic_X
MONOALLELIC_X_HEMIZYGOUS:
text: MONOALLELIC_X_HEMIZYGOUS
description: Plausible disease-causing mutations identified on the X chromosome
in a male as a cause of a specific disease, the disorder being predominantly
recessive in female carriers.
meaning: HP:0001419
title: X-linked recessive inheritance
aliases:
- monoallelic_X_hemizygous
MONOALLELIC_X_HETEROZYGOUS:
text: MONOALLELIC_X_HETEROZYGOUS
description: Plausible disease-causing mutations identified in one copy of the
X chromosome in females as a cause of a specific disease, include disorders
where heterozygous females and hemizygous males are similarly affected e.g SMC1A
mutations.
meaning: HP:0001423
title: X-linked dominant inheritance
aliases:
- monoallelic_X_heterozygous
MONOALLELIC_Y_HEMIZYGOUS:
text: MONOALLELIC_Y_HEMIZYGOUS
description: Plausible disease-causing mutations identified in an allele found
in the Y chromosome. The Y chromosome is passed from father to son as this mutation
may affect only males.
meaning: HP:0001450
title: Y-linked inheritance
aliases:
- monoallelic_Y_hemizygous
MONOALLELIC_PAR:
text: MONOALLELIC_PAR
description: Plausible disease-causing mutations identified in an allele found
in the pseudoautosomal regions. Inheritance is not strictly sex-linked.
meaning: HP:0034340
title: Pseudoautosomal dominant inheritance
aliases:
- monoallelic_PAR
BIALLELIC_PAR:
text: BIALLELIC_PAR
description: Plausible disease-causing homozygous or compound heterozygous mutations
identified on both alleles found in the pseudoautosomal regions. Inheritance
is not strictly sex-linked.
meaning: HP:0034341
title: Pseudoautosomal recessive inheritance
aliases:
- biallelic_PAR
MITOCHONDRIAL:
text: MITOCHONDRIAL
description: Plausible disease-causing mutations identified on mitochondrial DNA
where homoplasmy or heteroplasmy are associated with a specific disorder.
meaning: HP:0001427
title: Mitochondrial inheritance
aliases:
- mitochondrial