Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Mode of inheritance (HP:0000005)

Parent Node:
Autosomal dominant inheritance (HP:0000006)

..Starting node
..Autosomal dominant inheritance with maternal imprinting (HP:0012275)

Term ID:

12275

Name:

Autosomal dominant inheritance with maternal imprinting

Synonym:

Definition:

A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.

Comments:

Reference:

HP:0012275

Genes and Diseases:

Child Nodes:

Sister Nodes:

Autosomal dominant inheritance with paternal imprinting (HP:0012274)

Autosomal dominant somatic cell mutation (HP:0001444)

obsolete Autosomal dominant contiguous gene syndrome (HP:0001452)

Sex-limited expression (HP:0001470)

Typically de novo (HP:0025352)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012275	HP:0012275	Autosomal dominant inheritance with maternal imprinting	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2	26
HP:0012275	HP:0012275	Autosomal dominant inheritance with maternal imprinting	0	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2	5

Genes (2) :KANK1 MKRN3

Diseases (2) :OMIM:612900 OMIM:615346

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.