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:
Abnormal intestine morphology (HP:0002242)

Parent Node:
Malabsorption (HP:0002024)

..Starting node
..Lactose intolerance (HP:0004789)

Term ID:

4789

Name:

Lactose intolerance

Synonym:

Lactose intolerance; Milk intolerance

Definition:

An inability to digest lactose.

Comments:

Reference:

HP:0004789

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fat malabsorption (HP:0002630)

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:0004789	HP:0004789	Lactose intolerance	0	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.	72
HP:0004789	HP:0004789	Lactose intolerance	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0004789	HP:0004789	Lactose intolerance	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0004789	HP:0004789	Lactose intolerance	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0004789	HP:0004789	Lactose intolerance	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL

Genes (5) :LCT MCM6 MTOR PGM3 SATB1

Diseases (5) :OMIM:223000 OMIM:223100 ORPHA:457485 ORPHA:443811 OMIM:619229

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