(Q21097763)

English

hereditary hypophosphatemic rickets with hypercalciuria

Human disease

HHRH
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH
Hypercalciuric Rickets
Hypophosphatemic Hypercalciuric Rickets
Hypercalciuric Hypophosphatemic Rickets
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY

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Statements

0 references

0 references

hypophosphatemic rickets

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familial hypophosphatemia

0 references

1 reference

29 November 2020

3 references

13 August 2019

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000198569/MONDO_0009431

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C131450

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0050947

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0050947

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_157215

0 references

Identifiers

MeSH descriptor ID

C562793

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

29 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q21097763)

hereditary hypophosphatemic rickets with hypercalciuria

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