Hypomagnesemia 4, renal

Preferred Label : Hypomagnesemia 4, renal;

Symbol : HOMG4;

CISMeF acronym : HOMG4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypomagnesemia, renal, normocalciuric;

Prefixed ID : #611718;

Details

Origin ID

611718;

UMLS CUI

C2673648;

Automatic exact mappings (from CISMeF team)
- EGF wt Allele [NCIt concept]
- Familial primary hypomagnesemia with normocalciuria and normocalcemia [ORDO Disease]
- Hypomagnesaemia with normocalciuria [ICD-11 More detail]
Currated CISMeF NLP mapping
- hypomagnesemia 4, renal [MeSH concept]
- hypomagnesemia 4, renal [MeSH Supplementary Concept]
- renal hypomagnesemia 4 [DO Concept]
DO Cross reference
- renal hypomagnesemia 4 [DO Concept]
Genes related to phenotype
- Epidermal growth factor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Hypomagnesemia [HPO term]
- Intellectual disability, moderate [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Familial primary hypomagnesemia with normocalciuria and normocalcemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypomagnesemia 4, renal [MeSH Supplementary Concept]
- hypomagnesemia 4, renal [MeSH concept]
- renal hypomagnesemia 4 [DO Concept]

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