Hypophosphatemic rickets, autosomal recessive, 2

MONDO:0013219

Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.

Also known as: Autosomal Recessive Hypophosphatemic Rickets Type 2, ENPP1 autosomal recessive hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1, hypophosphatemic rickets, autosomal recessive, 2, hypophosphatemic rickets, autosomal recessive, type 2, ARHR2

2 clinical trials for this condition and its sub-types, 2 tagged with Hypophosphatemic rickets, autosomal recessive, 2 itself.

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Where it sits in the disease tree

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Part of

↑ Abnormal mineralization disorder (22) ↑ Autosomal recessive hypophosphatemic rickets (6)

Including sub-types (2) Tagged with Hypophosphatemic rickets, autosomal recessive, 2 (2)

Not yet finished but already full! 1 Completed 1

Rare disease mystery: scientists track GACI and ARHR2 to unlock clues

Knowledge-focused Completed

This completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Jul 18, 2026 00:00 UTC

Hypophosphatemic rickets, autosomal recessive, 2

Where it sits in the disease tree

Rare disease mystery: scientists track GACI and ARHR2 to unlock clues