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:
Food intolerance (HP:0012537)

Parent Node:
Intolerance to protein (HP:0001984)

..Starting node
..Gluten intolerance (HP:0012538)

Term ID:

12538

Name:

Gluten intolerance

Synonym:

Gluten intolerance; Gluten sensitivity

Definition:

A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.

Comments:

Reference:

HP:0012538

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012538	HP:0012538	Gluten intolerance	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare	138

Genes (1) :SRCAP

Diseases (1) :ORPHA:2044

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