Hypophosphatemic rickets, autosomal recessive, 1
MONDO:0009430Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.
Also known as: DMP1 autosomal recessive hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets caused by mutation in DMP1, hypophosphatemic rickets, AR, hypophosphatemic rickets, autosomal recessive, 1, hypophosphatemic rickets, autosomal recessive, type 1, ARHR1, Arhr, hypophosphatemia, autosomal recessive
5 clinical trials for this condition and its sub-types.
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Can medical records unlock the secrets of rare calcification diseases?
Knowledge-focused CompletedThis study looks back at medical records of people with two rare genetic conditions—ENPP1 deficiency and the early-onset form of ABCC6 deficiency—to map how these diseases progress over time. By collecting information on symptoms, imaging, and growth, researchers hope to better u…
Sponsor: Inozyme Pharma • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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Rare disease mystery: scientists track GACI and ARHR2 to unlock clues
Knowledge-focused CompletedThis 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
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Rare disease detectives: new study maps how two genetic conditions unfold in children
Knowledge-focused CompletedThis study follows children aged 2 to 18 with confirmed ENPP1 deficiency or early-onset ABCC6 deficiency to understand how these rare diseases progress. Researchers will measure blood markers, check for calcification in arteries and organs, and track bone health and movement over…
Sponsor: Inozyme Pharma • Aim: Knowledge-focused
Last updated Jul 08, 2026 00:00 UTC