CDI
MCID: NRH001
MIFTS: 58

Neurohypophyseal Diabetes Insipidus (CDI) malady

Endocrine diseases, Neuronal diseases categories

Summaries for Neurohypophyseal Diabetes Insipidus

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46OMIM, 32MalaCards
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MalaCards: Neurohypophyseal Diabetes Insipidus, also known as central diabetes insipidus, is related to diabetes insipidus and neurogenic diabetes insipidus, and has symptoms including thirst, dehydration/hydroelectrolytic loss and fever/chilling. An important gene associated with Neurohypophyseal Diabetes Insipidus is AVP (arginine vasopressin), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Vasopressin-regulated water reabsorption. The compounds hcrh and pitressin have been mentioned in the context of this disorder. Affiliated tissues include pituitary and testes, and related mouse phenotypes are renal/urinary system and integument.

Description from OMIM:46 304900,125700

Aliases & Classifications for Neurohypophyseal Diabetes Insipidus

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Sources:
8Disease Ontology, 48Orphanet, 60UMLS, 9diseasecard, 46OMIM, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
central diabetes insipidus:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal
hereditary neurogenic diabetes insipidus:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

neurohypophyseal diabetes insipidus 8
central diabetes insipidus 8 48 60
hereditary neurogenic diabetes insipidus 48
vasopressin defective diabetes insipidus 8
hereditary central diabetes insipidus 48
diabetes insipidus, neurohypophyseal 9
neurogenic diabetes insipidus 48
pituitary diabetes insipidus 8
vasopressin deficiency 8
hereditary cdi 48
cdi 48


External Ids:

Disease Ontology8 DOID:12388
MeSH34 D020790
NCIt39 C84933
MESH via Orphanet35 D020790
ICD10 via Orphanet26 E23.2
SNOMED-CT via Orphanet57 45369008
UMLS via Orphanet61 C0687720

Related Diseases for Neurohypophyseal Diabetes Insipidus

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17GeneCards, 18GeneDecks
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Diseases related to Neurohypophyseal Diabetes Insipidus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes insipidus31.7AQP2, AVP, AVPR2, OXT, POMC, PRL
2neurogenic diabetes insipidus31.3UBOX5, AQP2, AVP, AVPR2, OXT, POMC
3hypopituitarism30.9CRH, PRL, POMC, AVP, AQP2
4panhypopituitarism30.8AVP, POMC, PRL
5nephrogenic diabetes insipidus30.6AVPR2, AQP2
6pituitary apoplexy30.4PRL, POMC
7hypogonadism30.4POMC, PRL, CRH
8lung cancer30.3POMC
9anovulation30.2PRL
10obesity30.2CRH, POMC
11craniopharyngioma30.1AVP, POMC, PRL
12sheehan syndrome30.1CRH, PRL, POMC
13amenorrhea30.1POMC, PRL, CRH
14hypothyroidism30.1PRL, POMC, OXT, AVP
15hypertension29.9CRH, POMC, AVP
16leukemia10.6
17acute leukemia10.6
18histiocytosis10.5
19langerhans-cell histiocytosis10.5
20congenital toxoplasmosis10.4
21toxoplasmosis10.4
22neuronitis10.4
23encephalitis10.4
24myeloid leukemia10.4
25cerebritis10.3
26acute myeloid leukemia10.3
27diabetes mellitus10.3
28sarcoidosis10.3
29acquired central diabetes insipidus10.3
30congenital central diabetes insipidus10.3
31autosomal dominant disease10.3
32systemic lupus erythematosus10.2
33lupus erythematosus10.2
34stroke, ischemic10.1
35megakaryocytic leukemia10.1
36acute monocytic leukemia10.1
37central nervous system lymphoma10.1
38juvenile myelomonocytic leukemia10.1
39common variable immunodeficiency10.1
40wegener's granulomatosis10.1
41cleft lip10.1
42cleft palate10.1
43acquired immunodeficiency syndrome10.1
44wolfram syndrome10.1
45chronic myeloid leukemia10.1
46polycystic kidney disease10.1
47down syndrome10.1
48aceruloplasminemia10.1
49graves' disease10.1
50acute lymphocytic leukemia10.1

Graphical network of the top 20 diseases related to Neurohypophyseal Diabetes Insipidus:



Diseases related to neurohypophyseal diabetes insipidus

Clinical Features for Neurohypophyseal Diabetes Insipidus

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

304900,125700

Symptoms:

48 (show all 20)
  • thirst
  • dehydration/hydroelectrolytic loss
  • fever/chilling
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • facial pain/cephalalgia/migraine
  • x-linked dominant inheritance
  • hyponatremia
  • hypernatremia
  • acute diarrhea
  • somnolence/hypersomnia/parasomnia
  • diabetes insipidus
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • autosomal dominant inheritance
  • malabsorption/chronic diarrhea/steatorrhea
  • obnubilation/coma/lethargia/desorientation
  • autosomal recessive inheritance

Drugs & Therapeutics for Neurohypophyseal Diabetes Insipidus

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Neurohypophyseal Diabetes Insipidus

Drug clinical trials:

Search ClinicalTrials for Neurohypophyseal Diabetes Insipidus

Search NIH Clinical Center for Neurohypophyseal Diabetes Insipidus

Search CenterWatch for Neurohypophyseal Diabetes Insipidus

Genetic Tests for Neurohypophyseal Diabetes Insipidus

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Anatomical Context for Neurohypophyseal Diabetes Insipidus

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32MalaCards
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MalaCards organs/tissues related to Neurohypophyseal Diabetes Insipidus:

32
Pituitary, Testes

Animal Models for Neurohypophyseal Diabetes Insipidus or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Neurohypophyseal Diabetes Insipidus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.8AQP2, NLRP3, POMC, OXT, CLCNKA, AVPR2
2MP:00107717.3NLRP3, CRH, PRL, POMC, OXT, AVPR2
3MP:00053867.0CRH, PRL, POMC, OXT, AVPR2, AVP
4MP:00053766.8NLRP3, CRH, PRL, POMC, OXT, CLCNKA

Publications for Neurohypophyseal Diabetes Insipidus

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Sources:
50PubMed
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Articles related to Neurohypophyseal Diabetes Insipidus:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. (22695750)
2013
2
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus. (22168581)
2013
3
Clinical review: Treatment of neurohypophyseal diabetes insipidus. (23884783)
2013
4
A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family. (23252994)
2013
5
Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene. (22307687)
2012
6
Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus. (20401697)
2012
7
Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene. (21498630)
2011
8
Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene. (21088058)
2011
9
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. (19897608)
2010
10
Spontaneous regression of isolated neurohypophyseal langerhans cell histiocytosis with diabetes insipidus. (19461161)
2009
11
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. (19169480)
2008
12
Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal. (20960625)
2008
13
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. (18494865)
2008
14
Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus. (18316776)
2008
15
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560. (17297716)
2006
16
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561. (17297717)
2006
17
A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus. (16682840)
2006
18
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559. (17297715)
2006
19
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558. (17297714)
2006
20
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. (15811933)
2005
21
A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus. (16006166)
2005
22
Autophagy is a prosurvival mechanism in cells expressing an autosomal dominant familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. (15781609)
2005
23
Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. (15356057)
2004
24
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. (14673472)
2004
25
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. (14678298)
2004
26
Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus. (15644573)
2004
27
Autosomal dominant familial neurohypophyseal diabetes insipidus. (12874957)
2003
28
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. (14510916)
2003
29
A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. (12931042)
2003
30
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. (14660745)
2003
31
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor. (12107248)
2002
32
A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (12359138)
2002
33
A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. (11161827)
2001
34
A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus. (11748489)
2001
35
Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). (11581002)
2001
36
Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin- neurophysin II gene (AVP-NP II) in two Dutch families with familial neurohypophyseal diabetes insipidus. (11017955)
2000
37
Endoplasmic reticulum derangement in hypothalamic neurons of rats expressing a familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. (10973916)
2000
38
A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. (11150885)
2000
39
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. (10487710)
1999
40
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. (10369876)
1999
41
Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins. (10085151)
1999
42
Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus. (9580132)
1998
43
Occult neurohypophyseal germinomas in patients presenting with central diabetes insipidus. (17140187)
1998
44
Magnetic resonance imaging of posterior pituitary for evaluation of the neurohypophyseal function in idiopathic and autosomal dominant neurohypophyseal diabetes insipidus. (9265683)
1997
45
Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. (9109434)
1997
46
Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. (8964872)
1996
47
Two cases of lymphocytic hypophysitis presenting with diabetes insipidus: a variant of lymphocytic infundibulo-neurohypophysitis. (8781600)
1996
48
A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (8706292)
1996
49
A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus. (8045958)
1994
50
A family with congenital hypothalamic neurohypophyseal diabetes insipidus. (5422994)
1970

Genetic Variations for Neurohypophyseal Diabetes Insipidus

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Expression for genes affiliated with Neurohypophyseal Diabetes Insipidus

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neurohypophyseal Diabetes Insipidus

Search GEO for disease gene expression data for Neurohypophyseal Diabetes Insipidus.

Pathways for genes affiliated with Neurohypophyseal Diabetes Insipidus

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Sources:
49PharmGKB, 29KEGG, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Neurohypophyseal Diabetes Insipidus

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1hcrh4410.0POMC, CRH
2pitressin4410.0POMC, CRH
3atosiban28 4410.9OXT, AVPR2
4antalarmin44 2810.9CRH, POMC
5proliferin449.9CRH, PRL
6flesinoxan449.9POMC, PRL
7[arg8]-vasopressin599.8AVPR2, NLRP3, AVP
8(d(ch2)51,tyr(me)2,arg8)-vasopressin599.8AVPR2, NLRP3, AVP
9d[leu4,lys8]-vp599.8AVP, AVPR2, NLRP3
10sr 4905959 2810.8AVP, AVPR2, NLRP3
11ether449.8POMC, AVP, CRH
12arginine vasotocin449.8CRH, OXT
13oxytocin28 59 11 2412.7OXT, AVPR2
14acth 1-24449.7CRH, POMC, PRL
1511 deoxycortisol449.7PRL, CRH, POMC
16mirtazapine49 44 1111.6POMC, PRL, CRH
17fenfluramine28 44 1111.6CRH, PRL, POMC
18naltrexone44 49 28 1112.6POMC, PRL, CRH
1917-hydroxyprogesterone44 2410.6PRL, POMC, CRH
20allopregnanolone449.6POMC, CRH, OXT
21dehydroepiandrosterone sulfate449.6PRL, POMC, CRH
22chloride449.6AQP2, AVPR2, AVP, CLCNKA
23carbamazepine44 49 1111.5CRH, PRL, POMC
24ipsapirone44 2810.5POMC, PRL, OXT
25octreotide44 59 28 1112.5PRL, POMC, CRH
26diazepam44 49 28 1112.5POMC, CRH, OXT
27fluoxetine49 44 28 1112.5PRL, CRH, OXT
28dhea449.5POMC, CRH, PRL
29androstenedione44 2410.4CRH, PRL, POMC
30melatonin44 59 28 11 2413.3AVP, OXT, PRL
31hydrocortisone44 2 59 1112.3CRH, PRL, POMC, AQP2
32haloperidol44 28 2 49 1113.3PRL, POMC, AQP2
33hexarelin44 2810.2OXT, POMC, PRL, CRH
34naloxone44 49 28 1112.1OXT, CRH, PRL, POMC
35opiate449.1CRH, PRL, OXT, POMC
36corticosterone44 59 2411.1CRH, PRL, POMC, OXT
37mifepristone44 59 28 1112.1OXT, POMC, PRL, CRH
38progestin449.1PRL, OXT, POMC
39thyroxine44 2410.1OXT, POMC, PRL, CRH
40creatinine448.9AVP, AQP2, OXT, POMC, CRH
41dexamethasone44 49 28 1111.8POMC, AVP, CRH, AQP2, PRL
42norepinephrine44 11 2410.8OXT, POMC, PRL, CRH, AVP
43epinephrine44 11 2410.8OXT, AQP2, PRL, POMC, CRH
44progesterone44 59 28 11 2412.7OXT, CRH, AQP2, PRL, POMC
45acth448.6AVP, AVPR2, OXT, POMC, PRL, CRH
46steroid448.5OXT, AQP2, PRL, CRH, POMC, AVP
47alanine448.5AQP2, POMC, CRH, AVP, AVPR2
48arginine448.2AQP2, AVP, CRH, PRL, POMC, OXT
49desmopressin44 59 28 1111.2NLRP3, AQP2, AVP, AVPR2, OXT, POMC
50glutamate448.1AVP, AVPR2, CRH, NPTX2, OXT

GO Terms for genes affiliated with Neurohypophyseal Diabetes Insipidus

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16Gene Ontology
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Cellular components related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301418.5AVP, OXT, POMC, PRL
2extracellular regionGO:0055767.6CRH, PRL, POMC, OXT, AVP, NPTX2

Biological processes related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of systemic arterial blood pressureGO:00308410.1AVP, AVPR2
2maternal aggressive behaviorGO:00212510.0OXT, AVP
3hyperosmotic salinity responseGO:0425389.9AVP, OXT
4negative regulation of urine volumeGO:0358119.9AVPR2, OXT
5water transportGO:0068339.9AVPR2, AVP, AQP2
6response to etherGO:0454729.9CRH, OXT
7maternal behaviorGO:0427119.9OXT, AVP
8parturitionGO:0075679.8PRL, CRH
9positive regulation of cAMP biosynthetic processGO:0308199.8AVP, CRH
10excretionGO:0075889.8AQP2, AVPR2, CLCNKA
11grooming behaviorGO:0076259.8AVP, OXT
12response to ethanolGO:0454719.6CRH, PRL, AVP
13positive regulation of gene expressionGO:0106289.6CRH, AVPR2, AVP
14negative regulation of blood pressureGO:0457769.5CRH, OXT
15social behaviorGO:0351769.4AVP, OXT
16transmembrane transportGO:0550859.2AQP2, AVP, AVPR2, CLCNKA
17female pregnancyGO:0075659.1AQP2, OXT, PRL, CRH
18signal transductionGO:0071658.5NLRP3, CRH, POMC, OXT, AVP

Molecular functions related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.8AVP, CRH
2neurohypophyseal hormone activityGO:0051859.6AVP, OXT
3hormone activityGO:0051798.9POMC, PRL, CRH

Products for genes affiliated with Neurohypophyseal Diabetes Insipidus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neurohypophyseal Diabetes Insipidus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet