NANDO ID: 2201050 https://nanbyodata.jp/ontology/NANDO_2201050 Copy
Familial central diabetes insipidus
Overview
Synonyms
- EN
- ADH deficiency
- antidiuretic hormone deficiency
- Arginine vasopressin deficiency
- AVP deficiency
- diabetes insipidus of pituitary gland
- diabetes insipidus, cranial type
- diabetes insipidus, neurohypophyseal
- diabetes insipidus, primary central
- hereditary CDI
- hereditary central diabetes insipidus
- hereditary neurogenic diabetes insipidus
- neurogenic diabetes insipidus
- neurohypophyseal diabetes insipidus
- pituitary diabetes insipidus
- pituitary gland diabetes insipidus
- vasopressin defective diabetes insipidus
- vasopressin deficiency
Modes of inheritance
Links
| OMIM ID | Bridge ID | MONDO Label (EN) | Match Type | Feedback(*) |
|---|---|---|---|---|
| OMIM:125700 | MONDO:0007450 | neurohypophyseal diabetes insipidus | Exact Match |
* Welcome feedback on the links.
| Orphanet ID | Bridge ID | MONDO Label (EN) | Match Type | Feedback(*) |
|---|---|---|---|---|
| Orphanet:30925 | MONDO:0007450 | neurohypophyseal diabetes insipidus | Exact Match |
| MONDO ID | MONDO Label (EN) | Match Type | Feedback(*) |
|---|---|---|---|
| MONDO:0007450 | neurohypophyseal diabetes insipidus | Exact Match |
| MedGen CID | Bridge ID | Label (EN) | Match Type | Feedback(*) |
|---|---|---|---|---|
| C0342394 | MONDO:0007450 | Neurohypophyseal diabetes insipidus | Exact Match |
Descriptions
Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. >> 翻訳 (Google)
Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood (summary by Wahlstrom et al., 2004). >> 翻訳 (Google)