Diabetes insipidus, nephrogenic, with impaired intellectual development and intracerebral calcification

Preferred Label : Diabetes insipidus, nephrogenic, with impaired intellectual development and intracerebral calcification;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification;

Prefixed ID : 221995;

Details

Origin ID

221995;

UMLS CUI

C1857297;

Automatic exact mappings (from CISMeF team)
- Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome [ORDO Disease]
- Schofer Beetz Bohl syndrome [MeSH concept]
- diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification [MeSH concept]
- diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification [MeSH Supplementary Concept]
- schofer beetz bohl syndrome [MeSH Supplementary Concept]
HPO term(s)
- Cerebral calcification [HPO term]
- Global developmental delay [HPO term]
- Nephrogenic diabetes insipidus [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification [MeSH Supplementary Concept]
- diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification [MeSH concept]

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