Hypophosphatemic rickets, autosomal recessive, 1

Preferred Label : Hypophosphatemic rickets, autosomal recessive, 1;

Symbol : ARHR1;

CISMeF acronym : ARHP; ARHR; ARHR1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARHR; Hypophosphatemia, autosomal recessive; ARHP;

Inheritance : Autosomal recessive;

Prefixed ID : #241520;

Details

Origin ID

241520;

UMLS CUI

C4551495;

Automatic exact mappings (from CISMeF team)
- DMP1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Autosomal dominant hypophosphatemic rickets [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive hypophosphataemic rickets [ICD-11 More detail]
- Autosomal recessive hypophosphataemic rickets [MedDRA LLT]
- Autosomal recessive hypophosphatemic rickets [MedDRA LLT]
- Autosomal recessive hypophosphatemic rickets [ORDO Disease]
- hypophosphatemic rickets autosomal recessive 1 [Disease (Nov.)]
- hypophosphatemic rickets, autosomal recessive, 1 [MeSH concept]
- hypophosphatemic rickets, autosomal recessive, 1 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive hypophosphatemic rickets [DO Concept]
Genes related to phenotype
- Dentin matrix acidic phosphoprotein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Craniosynostosis [HPO term]
- Hypophosphatemia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Increased bone mineral density [HPO term]
- Rickets [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive hypophosphatemic rickets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Hypophosphatemia Rickets [NCIt concept]
- Autosomal recessive hypophosphatemic rickets [ORDO Disease]
- Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
- autosomal recessive hypophosphatemic rickets [DO Concept]
- autosomal recessive hypophosphatemic vitamin d refractory rickets [SNOMED Notion]
- hypophosphatemic rickets autosomal recessive 1 [Disease (Nov.)]
- hypophosphatemic rickets, autosomal recessive, 1 [MeSH concept]
- hypophosphatemic rickets, autosomal recessive, 1 [MeSH Supplementary Concept]

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