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 circulating protein concentration (HP:0010876)

Parent Node:
Abnormal insulin like growth factor binding protein acid labile subunit level (HP:0031034)

..Starting node
..Reduced insulin like growth factor binding protein acid labile subunit concentration (HP:0045046)

Term ID:

45046

Name:

Reduced insulin like growth factor binding protein acid labile subunit concentration

Synonym:

Acid-labile subunit deficiency; Decreased levels of acid labile subunit; Reduced insulin like growth factor binding protein acid labile subunit level

Definition:

An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.

Comments:

Reference:

HP:0045046

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0045046	HP:0045046	Reduced insulin like growth factor binding protein acid labile subunit concentration	0	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD	53

Genes (1) :IGFALS

Diseases (1) :OMIM:615961

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