MCID: LPT014
MIFTS: 37

Leptin Deficiency or Dysfunction

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Leptin Deficiency or Dysfunction

MalaCards integrated aliases for Leptin Deficiency or Dysfunction:

Name: Leptin Deficiency or Dysfunction 57 75 29 6 73
Obesity Due to Congenital Leptin Deficiency 59 75
Obesity, Morbid, Due to Leptin Deficiency 57 13
Lepd 57 75
Morbid Obesity Due to Leptin Deficiency 75
Obesity, Morbid, Nonsyndromic 1 57
Non-Syndromic Morbid Obesity 1 75
Leptin Deficiency 75

Characteristics:

Orphanet epidemiological data:

59
obesity due to congenital leptin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
some patients have a secreted but biologically inactive mutant leptin
hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin


HPO:

32
leptin deficiency or dysfunction:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leptin Deficiency or Dysfunction

UniProtKB/Swiss-Prot : 75 Leptin deficiency: A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age.

MalaCards based summary : Leptin Deficiency or Dysfunction, also known as obesity due to congenital leptin deficiency, is related to obesity due to congenital leptin deficiency and congenital leptin deficiency. An important gene associated with Leptin Deficiency or Dysfunction is LEP (Leptin). The drugs Moxifloxacin and Zinc have been mentioned in the context of this disorder. Affiliated tissues include t cells, ovary and bone, and related phenotypes are obesity and recurrent upper respiratory tract infections

Description from OMIM: 614962

Related Diseases for Leptin Deficiency or Dysfunction

Diseases related to Leptin Deficiency or Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obesity due to congenital leptin deficiency 11.4
2 congenital leptin deficiency 11.2

Symptoms & Phenotypes for Leptin Deficiency or Dysfunction

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries

Chest Breasts:
gynecomastia

Growth Weight:
normal birth weight
early-onset severe obesity

GenitourinaryInternal GenitaliaMale:
small testes

Abdomen Gastrointestinal:
hyperphagia

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Neurologic Peripheral Nervous System:
sympathetic system dysfunction

Genitourinary:
hypogonadism

Head And Neck Ears:
recurrent ear infections

Genitourinary External Genitalia Male:
small penis

Endocrine Features:
low testosterone levels
low estradiol levels
low serum leptin levels (in most patients)
high serum leptin levels (rare)
hypothalamic hypogonadism
more
Neurologic Behavioral Psychiatric Manifestations:
hyperphagia

Skin Nails Hair Hair:
no beard
sparse pubic and axillary hair

Immunology:
frequent infections in childhood
reduced number of ct4+ t cells (in some patients)
increase in cd8+ t cells (in some patients)
increase in b cells (in some patients)
marked reduction in cd4+/cd8+ ratio (in some patients)
more

Clinical features from OMIM:

614962

Human phenotypes related to Leptin Deficiency or Dysfunction:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 obligate (100%) Obligate (100%) HP:0001513
2 recurrent upper respiratory tract infections 59 32 Frequent (79-30%) HP:0002788
3 primary amenorrhea 59 32 Very frequent (99-80%) HP:0000786
4 decreased testicular size 59 32 Very frequent (99-80%) HP:0008734
5 gynecomastia 59 32 Very frequent (99-80%) HP:0000771
6 polyphagia 59 32 Very frequent (99-80%) HP:0002591
7 decreased serum leptin 59 32 Obligate (100%) HP:0003292
8 hypertriglyceridemia 59 Frequent (79-30%)
9 hyperinsulinemia 59 Very frequent (99-80%)
10 hypogonadism 32 HP:0000135
11 hypergonadotropic hypogonadism 59 Very frequent (99-80%)
12 absence of secondary sex characteristics 59 Very frequent (99-80%)
13 recurrent pneumonia 32 HP:0006532
14 accelerated skeletal maturation 59 Frequent (79-30%)
15 micropenis 32 HP:0000054
16 decreased serum estradiol 59 Very frequent (99-80%)
17 decreased number of cd4+ t cells 59 Very frequent (99-80%)
18 decreased t cell activation 59 Very frequent (99-80%)
19 decreased testosterone in males 59 Very frequent (99-80%)
20 hypoplasia of the ovary 59 Very frequent (99-80%)
21 insulin-resistant diabetes mellitus 59 Frequent (79-30%)
22 orthostatic hypotension due to autonomic dysfunction 59 Frequent (79-30%)
23 pituitary hypothyroidism 59 Frequent (79-30%)
24 abnormal eating behavior 32 HP:0100738
25 recurrent ear infections 32 HP:0410018

Drugs & Therapeutics for Leptin Deficiency or Dysfunction

Drugs for Leptin Deficiency or Dysfunction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Moxifloxacin Approved, Investigational Phase 2 354812-41-2, 151096-09-2 152946
2
Zinc Approved, Investigational Phase 2 7440-66-6 23994
3 Contraceptive Agents Phase 2
4 Contraceptives, Oral Phase 2
5 Contraceptives, Oral, Combined Phase 2
6 Norgestimate, ethinyl estradiol drug combination Phase 2
7 insulin Phase 2,Not Applicable
8 Insulin, Globin Zinc Phase 2,Not Applicable
9 Hypoglycemic Agents Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Low-Dose Leptin and the Formerly-Obese Unknown status NCT00073242 Phase 3 Leptin;T3 repletion
2 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
3 Effects of Human Leptin Replacement Unknown status NCT00657605 Phase 2 Recombinant methionyl human leptin
4 Effects of Leptin Replacement in Children Unknown status NCT00659828 Phase 2 Recombinant methionyl human leptin
5 Study of Leptin for the Treatment of Hypothalamic Amenorrhea Completed NCT00130117 Phase 2 r-metHuLeptin;Oral Contraceptive Pills (OCPs)
6 Trial of Leptin Administration After Roux-en-Y Gastric Bypass Completed NCT00710814 Phase 1, Phase 2 Leptin
7 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
8 Leptin to Treat Lipodystrophy Completed NCT00005905 Phase 2 hu Leptin (A-100)
9 Effect of Leptin Therapy in the Treatment of Severe Insulin Resistance Recruiting NCT00085982 Phase 2 Metreleptin
10 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
11 Leptin in Human Energy and Neuroendocrine Homeostasis Unknown status NCT00265980 Not Applicable Placebo;Leptin;placebo;Tri-iodothyronine
12 Recombinant Human Leptin Therapy Effects on Insulin Action Completed NCT01207934 Not Applicable low-dose leptin;high-dose leptin
13 Setemelanotide in a Single Patient With Partial Lipodystrophy No longer available NCT03262610 Setmelanotide

Search NIH Clinical Center for Leptin Deficiency or Dysfunction

Genetic Tests for Leptin Deficiency or Dysfunction

Genetic tests related to Leptin Deficiency or Dysfunction:

# Genetic test Affiliating Genes
1 Leptin Deficiency or Dysfunction 29 LEP

Anatomical Context for Leptin Deficiency or Dysfunction

MalaCards organs/tissues related to Leptin Deficiency or Dysfunction:

41
T Cells, Ovary, Bone, Testes, Pituitary, B Cells, Brain

Publications for Leptin Deficiency or Dysfunction

Articles related to Leptin Deficiency or Dysfunction:

(show top 50) (show all 120)
# Title Authors Year
1
Effects of hypothalamic leptin gene therapy on osteopetrosis in leptin-deficient mice. ( 29191939 )
2018
2
Leptin-deficient obesity prolongs survival in a murine model of myelodysplastic syndrome. ( 29371326 )
2018
3
ANCA-associated Vasculitis in a Case of Congenital Leptin Deficiency. ( 29937567 )
2018
4
Leptin Replacement Reestablishes Brain Insulin Action in the Hypothalamus in Congenital Leptin Deficiency. ( 29367426 )
2018
5
Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency. ( 29226618 )
2017
6
Leptin deficiency in mice counteracts imiquimod (IMQ)-induced psoriasis-like skin inflammation while leptin stimulation induces inflammation in human keratinocytes. ( 27488462 )
2017
7
Dietary component isorhamnetin is a PPARI^ antagonist and ameliorates metabolic disorders induced by diet or leptin deficiency. ( 26775807 )
2016
8
Neonatal growth restriction-related leptin deficiency enhances leptin-triggered sympathetic activation and central angiotensin II receptor-dependent stress-evoked hypertension. ( 27049292 )
2016
9
Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity. ( 27313173 )
2016
10
Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy. ( 26465174 )
2015
11
Leptin Deficiency Shifts Mast Cells toward Anti-Inflammatory Actions and Protects Mice from Obesity and Diabetes by Polarizing M2 Macrophages. ( 26481668 )
2015
12
Paradoxical Effects of Partial Leptin Deficiency on Bone in Growing Female Mice. ( 26370912 )
2015
13
Leptin deficiency down-regulates IL-23 production in glomerular podocyte resulting in attenuated immune response in nephrotoxic serum nephritis. ( 26567290 )
2015
14
Synergistic metabolic benefits of an exenatide analogue andA cholecystokinin in diet-induced obese and leptin-deficient rodents. ( 25204356 )
2015
15
Leptin deficiency promotes central sleep apnea in patients with heart failure. ( 24030529 )
2014
16
Genetically altering organismal metabolism by leptin-deficiency benefits a mouse model of amyotrophic lateral sclerosis. ( 24833719 )
2014
17
Neonatal leptin deficiency reduces frontal cortex volumes and programs adult hyperactivity in mice. ( 24472638 )
2014
18
Leptin deficiency in vivo enhances the ability of splenic dendritic cells to activate T cells. ( 24966213 )
2014
19
Leptin deficiency recapitulates the histological features of pulmonary arterial hypertension in mice. ( 24966903 )
2014
20
The reward value of sucrose in leptin-deficient obese mice. ( 24567906 )
2014
21
Leptin deficiency in rats results in hyperinsulinemia and impaired glucose homeostasis. ( 24467741 )
2014
22
Leptin deficiency in maltreated children. ( 25247591 )
2014
23
Leptin deficiency is involved in the cognitive impairment of streptozocin-induced diabetic rats undergoing cardiopulmonary bypass. ( 25356111 )
2014
24
Morbid obesity attenuates the skeletal abnormalities associated with leptin deficiency in mice. ( 24990938 )
2014
25
Increased expression of transthyretin in leptin-deficient ob/ob mice is not causative for their major phenotypic abnormalities. ( 22849972 )
2013
26
Ablation of ghrelin O-acyltransferase does not improve glucose intolerance or body adiposity in mice on a leptin-deficient ob/ob background. ( 23630616 )
2013
27
Leptin deficiency modulates allograft survival by favoring a Th2 and a regulatory immune profile. [corrected]. ( 23016759 )
2013
28
Leptin deficiency impairs maturation of dendritic cells and enhances induction of regulatory T and Th17 cells. ( 24271843 )
2013
29
Long-term stabilization effects of leptin on brain functions in a leptin-deficient patient. ( 23799059 )
2013
30
Effects of leptin deficiency and replacement on cerebellar response to food-related cues. ( 22576622 )
2013
31
Leptin deficiency-induced obesity affects the density of mast cells in abdominal fat depots and lymph nodes in mice. ( 22313574 )
2012
32
Leptin Deficiency and Its Effects on Tibial and Vertebral Bone Mechanical Properties in Mature Genetically Lean and Obese JCR:LA-Corpulent Rats. ( 22888408 )
2012
33
Leptin substitution results in the induction of menstrual cycles in an adolescent with leptin deficiency and hypogonadotropic hypogonadism. ( 22343341 )
2012
34
Localization of lipoprotein lipase and GPIHBP1 in mouse pancreas: effects of diet and leptin deficiency. ( 23186339 )
2012
35
Leptin deficiency contributes to the pathogenesis of alcoholic fatty liver disease in mice. ( 22841822 )
2012
36
Caloric restriction in leptin deficiency does not correct myocardial steatosis: failure to normalize PPAR{alpha}/PGC1{alpha} and thermogenic glycerolipid/fatty acid cycling. ( 21427359 )
2011
37
Dynamics of plasma proteome during leptin-replacement therapy in genetically based leptin deficiency. ( 20458342 )
2011
38
Neuroglial metabolic compartmentation underlying leptin deficiency in the obese ob/ob mice as detected by magnetic resonance imaging and spectroscopy methods. ( 21971349 )
2011
39
Short-term plasticity of gray matter associated with leptin deficiency and replacement. ( 21613360 )
2011
40
Leptin deficiency and leptin gene mutations in obese children from Pakistan. ( 21854111 )
2011
41
Leptin deficiency suppresses MMTV-Wnt-1 mammary tumor growth in obese mice and abrogates tumor initiating cell survival. ( 21636700 )
2011
42
Leptin deficiency and diet-induced obesity reduce hypothalamic kisspeptin expression in mice. ( 21325051 )
2011
43
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy. ( 21340154 )
2010
44
Leptin deficiency causes insulin resistance induced by uncontrolled diabetes. ( 20424233 )
2010
45
Leptin deficiency-induced obesity exacerbates ultraviolet B radiation-induced cyclooxygenase-2 expression and cell survival signals in ultraviolet B-irradiated mouse skin. ( 20122948 )
2010
46
Leptin deficiency: clinical implications and opportunities for therapeutic interventions. ( 19730134 )
2009
47
Congenital leptin deficiency and thyroid function. ( 19889232 )
2009
48
Effects of leptin replacement on risk factors for cardiovascular disease in genetically leptin-deficient subjects. ( 18726825 )
2009
49
Leptin replacement restores supraspinal cholinergic antinociception in leptin-deficient obese mice. ( 19380255 )
2009
50
Leptin deficiency and beta-cell dysfunction underlie type 2 diabetes in compound Akt knockout mice. ( 19289493 )
2009

Variations for Leptin Deficiency or Dysfunction

UniProtKB/Swiss-Prot genetic disease variations for Leptin Deficiency or Dysfunction:

75
# Symbol AA change Variation ID SNP ID
1 LEP p.Arg105Trp VAR_008094 rs104894023
2 LEP p.Asp100Tyr VAR_075144 rs724159998

ClinVar genetic disease variations for Leptin Deficiency or Dysfunction:

6
(show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 LEP LEP, 1-BP DEL, FS147TER deletion Pathogenic
2 LEP NM_000230.2(LEP): c.313C> T (p.Arg105Trp) single nucleotide variant Pathogenic rs104894023 GRCh37 Chromosome 7, 127894625: 127894625
3 LEP NM_000230.2(LEP): c.313C> T (p.Arg105Trp) single nucleotide variant Pathogenic rs104894023 GRCh38 Chromosome 7, 128254572: 128254572
4 LEP NM_000230.2(LEP): c.-39G> A single nucleotide variant Likely benign rs2167270 GRCh37 Chromosome 7, 127881349: 127881349
5 LEP NM_000230.2(LEP): c.-39G> A single nucleotide variant Likely benign rs2167270 GRCh38 Chromosome 7, 128241296: 128241296
6 LEP NM_000230.2(LEP): c.144+15C> T single nucleotide variant Uncertain significance rs776318015 GRCh37 Chromosome 7, 127892230: 127892230
7 LEP NM_000230.2(LEP): c.144+15C> T single nucleotide variant Uncertain significance rs776318015 GRCh38 Chromosome 7, 128252177: 128252177
8 LEP NM_000230.2(LEP): c.181G> A (p.Asp61Asn) single nucleotide variant Uncertain significance rs886061972 GRCh37 Chromosome 7, 127894493: 127894493
9 LEP NM_000230.2(LEP): c.181G> A (p.Asp61Asn) single nucleotide variant Uncertain significance rs886061972 GRCh38 Chromosome 7, 128254440: 128254440
10 LEP NM_000230.2(LEP): c.280G> A (p.Val94Met) single nucleotide variant Benign/Likely benign rs17151919 GRCh38 Chromosome 7, 128254539: 128254539
11 LEP NM_000230.2(LEP): c.280G> A (p.Val94Met) single nucleotide variant Benign/Likely benign rs17151919 GRCh37 Chromosome 7, 127894592: 127894592
12 LEP NM_000230.2(LEP): c.*204C> T single nucleotide variant Uncertain significance rs113405088 GRCh38 Chromosome 7, 128254967: 128254967
13 LEP NM_000230.2(LEP): c.*204C> T single nucleotide variant Uncertain significance rs113405088 GRCh37 Chromosome 7, 127895020: 127895020
14 LEP NM_000230.2(LEP): c.*422G> C single nucleotide variant Uncertain significance rs886061975 GRCh38 Chromosome 7, 128255185: 128255185
15 LEP NM_000230.2(LEP): c.*422G> C single nucleotide variant Uncertain significance rs886061975 GRCh37 Chromosome 7, 127895238: 127895238
16 LEP NM_000230.2(LEP): c.*785A> G single nucleotide variant Uncertain significance rs114834517 GRCh37 Chromosome 7, 127895601: 127895601
17 LEP NM_000230.2(LEP): c.*785A> G single nucleotide variant Uncertain significance rs114834517 GRCh38 Chromosome 7, 128255548: 128255548
18 LEP NM_000230.2(LEP): c.*1010C> A single nucleotide variant Uncertain significance rs138289049 GRCh37 Chromosome 7, 127895826: 127895826
19 LEP NM_000230.2(LEP): c.*1010C> A single nucleotide variant Uncertain significance rs138289049 GRCh38 Chromosome 7, 128255773: 128255773
20 LEP NM_000230.2(LEP): c.*1014C> G single nucleotide variant Uncertain significance rs151325384 GRCh37 Chromosome 7, 127895830: 127895830
21 LEP NM_000230.2(LEP): c.*1014C> G single nucleotide variant Uncertain significance rs151325384 GRCh38 Chromosome 7, 128255777: 128255777
22 LEP NM_000230.2(LEP): c.*1549T> C single nucleotide variant Uncertain significance rs201701012 GRCh37 Chromosome 7, 127896365: 127896365
23 LEP NM_000230.2(LEP): c.*1549T> C single nucleotide variant Uncertain significance rs201701012 GRCh38 Chromosome 7, 128256312: 128256312
24 LEP NM_000230.2(LEP): c.*1720A> G single nucleotide variant Benign rs10954174 GRCh37 Chromosome 7, 127896536: 127896536
25 LEP NM_000230.2(LEP): c.*1720A> G single nucleotide variant Benign rs10954174 GRCh38 Chromosome 7, 128256483: 128256483
26 LEP NM_000230.2(LEP): c.*2015C> A single nucleotide variant Uncertain significance rs28959471 GRCh37 Chromosome 7, 127896831: 127896831
27 LEP NM_000230.2(LEP): c.*2015C> A single nucleotide variant Uncertain significance rs28959471 GRCh38 Chromosome 7, 128256778: 128256778
28 LEP NM_000230.2(LEP): c.*2053G> A single nucleotide variant Uncertain significance rs17617757 GRCh37 Chromosome 7, 127896869: 127896869
29 LEP NM_000230.2(LEP): c.*2053G> A single nucleotide variant Uncertain significance rs17617757 GRCh38 Chromosome 7, 128256816: 128256816
30 LEP NM_000230.2(LEP): c.*2595C> A single nucleotide variant Likely benign rs28959475 GRCh37 Chromosome 7, 127897411: 127897411
31 LEP NM_000230.2(LEP): c.*2595C> A single nucleotide variant Likely benign rs28959475 GRCh38 Chromosome 7, 128257358: 128257358
32 LEP NM_000230.2(LEP): c.*2738G> A single nucleotide variant Uncertain significance rs201644572 GRCh37 Chromosome 7, 127897554: 127897554
33 LEP NM_000230.2(LEP): c.*2738G> A single nucleotide variant Uncertain significance rs201644572 GRCh38 Chromosome 7, 128257501: 128257501
34 LEP NM_000230.2(LEP): c.*150G> A single nucleotide variant Uncertain significance rs28954115 GRCh38 Chromosome 7, 128254913: 128254913
35 LEP NM_000230.2(LEP): c.*150G> A single nucleotide variant Uncertain significance rs28954115 GRCh37 Chromosome 7, 127894966: 127894966
36 LEP NM_000230.2(LEP): c.*300C> T single nucleotide variant Uncertain significance rs191600447 GRCh38 Chromosome 7, 128255063: 128255063
37 LEP NM_000230.2(LEP): c.*300C> T single nucleotide variant Uncertain significance rs191600447 GRCh37 Chromosome 7, 127895116: 127895116
38 LEP NM_000230.2(LEP): c.*1260A> G single nucleotide variant Uncertain significance rs144195028 GRCh37 Chromosome 7, 127896076: 127896076
39 LEP NM_000230.2(LEP): c.*1260A> G single nucleotide variant Uncertain significance rs144195028 GRCh38 Chromosome 7, 128256023: 128256023
40 LEP NM_000230.2(LEP): c.*2205G> A single nucleotide variant Likely benign rs41457646 GRCh38 Chromosome 7, 128256968: 128256968
41 LEP NM_000230.2(LEP): c.*2205G> A single nucleotide variant Likely benign rs41457646 GRCh37 Chromosome 7, 127897021: 127897021
42 LEP NM_000230.2(LEP): c.*2410G> A single nucleotide variant Likely benign rs28959474 GRCh37 Chromosome 7, 127897226: 127897226
43 LEP NM_000230.2(LEP): c.*2410G> A single nucleotide variant Likely benign rs28959474 GRCh38 Chromosome 7, 128257173: 128257173
44 LEP NM_000230.2(LEP): c.*2527G> T single nucleotide variant Uncertain significance rs886061979 GRCh38 Chromosome 7, 128257290: 128257290
45 LEP NM_000230.2(LEP): c.*2527G> T single nucleotide variant Uncertain significance rs886061979 GRCh37 Chromosome 7, 127897343: 127897343
46 LEP NM_000230.2(LEP): c.*2799C> T single nucleotide variant Uncertain significance rs200887574 GRCh37 Chromosome 7, 127897615: 127897615
47 LEP NM_000230.2(LEP): c.*2799C> T single nucleotide variant Uncertain significance rs200887574 GRCh38 Chromosome 7, 128257562: 128257562
48 LEP NM_000230.2(LEP): c.21C> T (p.Cys7=) single nucleotide variant Uncertain significance rs201523305 GRCh37 Chromosome 7, 127892092: 127892092
49 LEP NM_000230.2(LEP): c.21C> T (p.Cys7=) single nucleotide variant Uncertain significance rs201523305 GRCh38 Chromosome 7, 128252039: 128252039
50 LEP NM_000230.2(LEP): c.*34G> A single nucleotide variant Uncertain significance rs28954114 GRCh38 Chromosome 7, 128254797: 128254797

Expression for Leptin Deficiency or Dysfunction

Search GEO for disease gene expression data for Leptin Deficiency or Dysfunction.

Pathways for Leptin Deficiency or Dysfunction

GO Terms for Leptin Deficiency or Dysfunction

Sources for Leptin Deficiency or Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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