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Hereditary hypophosphatemic rickets

MONDO:0000044

Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.

Also known as: hereditary hypophosphatemic rickets

18 clinical trials for this condition and its sub-types, 1 tagged with Hereditary hypophosphatemic rickets itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18187) ↑ Hypophosphatemic rickets (19)

Sub-types of Hereditary hypophosphatemic rickets

X-linked hypophosphatemic rickets 11 trials · 12 incl. sub-types
2 sub-types
- X-linked dominant hypophosphatemic rickets 10 trials
- Hypophosphatemic rickets, X-linked recessive 0 trials
Autosomal recessive hypophosphatemic rickets 5 trials · 6 incl. sub-types
2 sub-types
- Hypophosphatemic rickets, autosomal recessive, 1 5 trials
- Hypophosphatemic rickets, autosomal recessive, 2 2 trials
Hereditary hypophosphatemic rickets with hypercalciuria 1 trial
Autosomal dominant hypophosphatemic rickets 0 trials

Including sub-types (18) Tagged with Hereditary hypophosphatemic rickets (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC