Autosomal recessive hypophosphatemic vitamin D refractory rickets(ARHP)

MedGen UID:: 137975
•Concept ID:: C0342643
•: Disease or Syndrome

Synonym:	Autosomal recessive hypophosphatemic rickets
SNOMED CT:	Autosomal recessive hypophosphatemic rickets (90505000); Autosomal recessive hypophosphatemic vitamin D refractory rickets (90505000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0017324
OMIM®:	241520
Orphanet:	ORPHA289176

Definition

A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive hypophosphatemic vitamin D refractory rickets

Abnormal circulating metabolite concentration
- Abnormal blood ion concentration
  - Abnormal blood phosphate concentration
    - Hypophosphatemia
      - Hypophosphatemic rickets
        Hereditary hypophosphatemic rickets
        Autosomal recessive hypophosphatemic vitamin D refractory rickets

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Autosomal recessive hypophosphatemic vitamin D refractory rickets(ARHP)

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