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:
Abnormality of alkaline phosphatase level (HP:0004379)

Parent Node:
Low alkaline phosphatase (HP:0003282)

..Starting node
..Low tissue non-specific alkaline phosphatase (HP:0010683)

Term ID:

10683

Name:

Low tissue non-specific alkaline phosphatase

Synonym:

Low tissue non-specific ALP

Definition:

An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.

Comments:

Reference:

HP:0010683

Genes and Diseases:

Child Nodes:

........

Low alkaline phosphatase of bone origin (HP:0010684)

........

Low alkaline phosphatase of renal origin (HP:0010685)

........

Low alkaline phosphatase of hepatic origin (HP:0010686)

Sister Nodes:

Low intestinal alkaline phosphatase (HP:0010687)

Low placental alkaline phosphatase (HP:0010688)

Reduced leukocyte alkaline phosphatase (HP:0004852)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010683	HP:0010683	Low tissue non-specific alkaline phosphatase	0	CL E G H

Genes (0) :

Diseases (0) :

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