MCID: HYP548
MIFTS: 32

Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 2 with or Without Anosmia 57 12 75 13
Kallmann Syndrome 2 57 53 75 29 6 73
Kal2 57 53 75
Hh2 57 75
Hypogonadism, Hypogonadotropic, Type 2 with/without Anosmia 40
Kallmann Syndrome 2; Kal2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
some patients experience later reversal of hypogonadotropic hypogonadism
phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene


HPO:

32
hypogonadotropic hypogonadism 2 with or without anosmia:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

OMIM : 57 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). (147950)

MalaCards based summary : Hypogonadotropic Hypogonadism 2 with or Without Anosmia, also known as kallmann syndrome 2, is related to kallmann syndrome and hypogonadotropic hypogonadism 1 with or without anosmia. An important gene associated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia is FGFR1 (Fibroblast Growth Factor Receptor 1). The drugs Coenzyme Q10 and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include pituitary, olfactory bulb and bone, and related phenotypes are cryptorchidism and hypogonadotrophic hypogonadism

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 2 with or without anosmia: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

Related Diseases for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kallmann syndrome 10.1
2 hypogonadotropic hypogonadism 1 with or without anosmia 9.9
3 hypogonadism 9.9

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Internal Genitalia Female:
primary amenorrhea

Chest Breasts:
delayed or absent thelarche
gynecomastia (in untreated males)

Head And Neck Eyes:
iris coloboma (rare)

Head And Neck Teeth:
tooth agenesis, variable in number (in some patients)

Skeletal Hands:
clinodactyly (rare)
fusion of fourth and fifth metacarpal bones (rare)
ectrodactyly (rare)

Neurologic Central Nervous System:
mirror hand movements (bimanual synkinesis, in some patients)
corpus callosum agenesis (rare)

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Endocrine Features:
hypogonadotropic hypogonadism
delayed or absent puberty
low to undetectable gonadotropin levels
low testosterone level
low estradiol level

Head And Neck Ears:
hearing loss, unilateral (rare)

Head And Neck Nose:
hyposmia/anosmia (in some patients)
absence of nasal cartilage, unilateral (rare)

Skeletal:
osteopenia (in some patients)

Skeletal Feet:
ectrodactyly (rare)


Clinical features from OMIM:

147950

Human phenotypes related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypogonadotrophic hypogonadism 32 HP:0000044
3 micropenis 32 HP:0000054
4 cleft palate 32 HP:0000175
5 cleft upper lip 32 HP:0000204
6 sensorineural hearing impairment 32 HP:0000407
7 choanal atresia 32 HP:0000453
8 anosmia 32 HP:0000458
9 iris coloboma 32 occasional (7.5%) HP:0000612
10 gynecomastia 32 HP:0000771
11 primary amenorrhea 32 HP:0000786
12 osteopenia 32 occasional (7.5%) HP:0000938
13 intellectual disability 32 HP:0001249
14 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
15 bimanual synkinesia 32 HP:0001335
16 short stature 32 HP:0004322
17 reduced number of teeth 32 occasional (7.5%) HP:0009804
18 clinodactyly 32 occasional (7.5%) HP:0030084
19 abnormality of cardiovascular system morphology 32 HP:0030680
20 ectrodactyly 32 occasional (7.5%) HP:0100257

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Drugs for Hypogonadotropic Hypogonadism 2 with or Without Anosmia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
2
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
4 Antioxidants Phase 3
5 Micronutrients Phase 3
6 Protective Agents Phase 3
7 Tocopherols Phase 3
8 Tocotrienols Phase 3
9 Trace Elements Phase 3
10 Ubiquinone Phase 3
11 Vitamins Phase 3
12 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
13
Bupivacaine Approved, Investigational Not Applicable 2180-92-9, 38396-39-3 2474
14
Morphine Approved, Investigational Not Applicable 57-27-2 5288826
15
Sufentanil Approved, Investigational Not Applicable 56030-54-7 41693
16 Anesthetics Not Applicable
17 Anesthetics, Local Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Coenzyme Q10 (CoQ) in Parkinson Disease Terminated NCT00740714 Phase 3 Coenzyme Q10 with vitamin E;placebo with vitamin E
2 Continuous Infusion for Pain Relief Unknown status NCT02711072 Not Applicable control group;infiltration group
3 Maximizing Mechanisms of Muscle Hypertrophy to Combat Sarcopenia in Older Adults Completed NCT02442479 Not Applicable

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Kallmann Syndrome 2 29 FGFR1

Anatomical Context for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

41
Pituitary, Olfactory Bulb, Bone

Publications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

75 (show top 50) (show all 59)
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Gly97Asp VAR_017885
2 FGFR1 p.Tyr99Cys VAR_017886 rs727505373
3 FGFR1 p.Ala167Ser VAR_017887 rs121909630
4 FGFR1 p.Cys277Tyr VAR_017888
5 FGFR1 p.Val607Met VAR_017889 rs121909629
6 FGFR1 p.Trp666Arg VAR_017890
7 FGFR1 p.Met719Arg VAR_017891
8 FGFR1 p.Gly48Ser VAR_030968 rs121909640
9 FGFR1 p.Arg78Cys VAR_030970
10 FGFR1 p.Cys101Phe VAR_030971
11 FGFR1 p.Val102Ile VAR_030972 rs55642501
12 FGFR1 p.Asp129Ala VAR_030973 rs765615419
13 FGFR1 p.Cys178Ser VAR_030974
14 FGFR1 p.Asp224His VAR_030976
15 FGFR1 p.Gly237Asp VAR_030977
16 FGFR1 p.Gly237Ser VAR_030978 rs121909635
17 FGFR1 p.Leu245Pro VAR_030979
18 FGFR1 p.Arg250Trp VAR_030980
19 FGFR1 p.Arg254Gln VAR_030981
20 FGFR1 p.Gly270Asp VAR_030982
21 FGFR1 p.Val273Met VAR_030983
22 FGFR1 p.Glu274Gly VAR_030984 rs727505369
23 FGFR1 p.Pro283Arg VAR_030985
24 FGFR1 p.Ser332Cys VAR_030988
25 FGFR1 p.Tyr339Cys VAR_030989
26 FGFR1 p.Ala343Val VAR_030990
27 FGFR1 p.Ser346Cys VAR_030991
28 FGFR1 p.Pro366Leu VAR_030992 rs121909641
29 FGFR1 p.Ala520Thr VAR_030995 rs749758370
30 FGFR1 p.Ile538Val VAR_030996
31 FGFR1 p.His621Arg VAR_030997
32 FGFR1 p.Arg622Gly VAR_030998 rs121909628
33 FGFR1 p.Arg622Gln VAR_030999
34 FGFR1 p.Ser685Phe VAR_031000
35 FGFR1 p.Gly687Arg VAR_031001 rs727505376
36 FGFR1 p.Ile693Phe VAR_031002
37 FGFR1 p.Gly703Arg VAR_031003
38 FGFR1 p.Gly703Ser VAR_031004 rs768957161
39 FGFR1 p.Pro722His VAR_031005 rs267606805
40 FGFR1 p.Pro722Ser VAR_031006 rs121909642
41 FGFR1 p.Asn724Lys VAR_031007 rs267606806
42 FGFR1 p.Pro745Ser VAR_031008
43 FGFR1 p.Val795Ile VAR_031010 rs781328162
44 FGFR1 p.Asn117Ser VAR_069288 rs780765366
45 FGFR1 p.Tyr228Asp VAR_069289
46 FGFR1 p.Ile239Thr VAR_069290
47 FGFR1 p.Arg250Gln VAR_069291 rs121909645
48 FGFR1 p.Arg470Leu VAR_069292 rs121909637
49 FGFR1 p.Lys618Asn VAR_069293
50 FGFR1 p.Ala671Pro VAR_069294

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

6
(show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh37 Chromosome 8, 38282208: 38282208
2 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh38 Chromosome 8, 38424690: 38424690
3 FGFR1 NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter) single nucleotide variant Likely pathogenic rs121909628 GRCh37 Chromosome 8, 38272410: 38272410
4 FGFR1 NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter) single nucleotide variant Likely pathogenic rs121909628 GRCh38 Chromosome 8, 38414892: 38414892
5 FGFR1 NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser) single nucleotide variant risk factor rs121909635 GRCh37 Chromosome 8, 38283676: 38283676
6 FGFR1 NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser) single nucleotide variant risk factor rs121909635 GRCh38 Chromosome 8, 38426158: 38426158
7 FGFR1 NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter) single nucleotide variant Likely pathogenic rs121909636 GRCh37 Chromosome 8, 38272087: 38272087
8 FGFR1 NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter) single nucleotide variant Likely pathogenic rs121909636 GRCh38 Chromosome 8, 38414569: 38414569
9 FGFR1 NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu) single nucleotide variant risk factor rs121909637 GRCh37 Chromosome 8, 38275767: 38275767
10 FGFR1 NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu) single nucleotide variant risk factor rs121909637 GRCh38 Chromosome 8, 38418249: 38418249
11 FGFR1 NM_023110.2(FGFR1): c.1825C> T (p.Arg609Ter) single nucleotide variant Pathogenic rs121909639 GRCh37 Chromosome 8, 38273417: 38273417
12 FGFR1 NM_023110.2(FGFR1): c.1825C> T (p.Arg609Ter) single nucleotide variant Pathogenic rs121909639 GRCh38 Chromosome 8, 38415899: 38415899
13 FGFR1 NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser) single nucleotide variant Pathogenic rs121909640 GRCh37 Chromosome 8, 38287416: 38287416
14 FGFR1 NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser) single nucleotide variant Pathogenic rs121909640 GRCh38 Chromosome 8, 38429898: 38429898
15 FGFR1 NM_023110.2(FGFR1): c.2292G> T (p.Gln764His) single nucleotide variant Pathogenic rs121909643 GRCh37 Chromosome 8, 38271436: 38271436
16 FGFR1 NM_023110.2(FGFR1): c.2292G> T (p.Gln764His) single nucleotide variant Pathogenic rs121909643 GRCh38 Chromosome 8, 38413918: 38413918
17 FGFR1 NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr) single nucleotide variant risk factor rs121909644 GRCh37 Chromosome 8, 38271313: 38271313
18 FGFR1 NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr) single nucleotide variant risk factor rs121909644 GRCh38 Chromosome 8, 38413795: 38413795
19 FGFR1 NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln) single nucleotide variant risk factor rs121909645 GRCh37 Chromosome 8, 38282214: 38282214
20 FGFR1 NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln) single nucleotide variant risk factor rs121909645 GRCh38 Chromosome 8, 38424696: 38424696
21 FGFR1 NM_023110.2(FGFR1): c.790A> C (p.Asn264His) single nucleotide variant Pathogenic rs515726223 GRCh37 Chromosome 8, 38282173: 38282173
22 FGFR1 NM_023110.2(FGFR1): c.790A> C (p.Asn264His) single nucleotide variant Pathogenic rs515726223 GRCh38 Chromosome 8, 38424655: 38424655
23 FGFR1 NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp) single nucleotide variant Pathogenic rs515726224 GRCh37 Chromosome 8, 38275480: 38275480
24 FGFR1 NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp) single nucleotide variant Pathogenic rs515726224 GRCh38 Chromosome 8, 38417962: 38417962
25 FGFR1 NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile) single nucleotide variant Pathogenic rs515726225 GRCh37 Chromosome 8, 38271772: 38271772
26 FGFR1 NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile) single nucleotide variant Pathogenic rs515726225 GRCh38 Chromosome 8, 38414254: 38414254
27 FGFR1 NM_023110.2(FGFR1): c.565C> T (p.Arg189Cys) single nucleotide variant Pathogenic rs863223331 GRCh37 Chromosome 8, 38285495: 38285495
28 FGFR1 NM_023110.2(FGFR1): c.565C> T (p.Arg189Cys) single nucleotide variant Pathogenic rs863223331 GRCh38 Chromosome 8, 38427977: 38427977
29 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh37 Chromosome 8, 38271547: 38271547
30 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh38 Chromosome 8, 38414029: 38414029
31 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh37 Chromosome 8, 38271301: 38271301
32 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh38 Chromosome 8, 38413783: 38413783
33 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh37 Chromosome 8, 38287238: 38287238
34 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh38 Chromosome 8, 38429720: 38429720
35 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh37 Chromosome 8, 38287213: 38287213
36 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh38 Chromosome 8, 38429695: 38429695
37 FGFR1 NM_023110.2(FGFR1): c.600C> T (p.Asp200=) single nucleotide variant Benign/Likely benign rs17175898 GRCh37 Chromosome 8, 38285460: 38285460
38 FGFR1 NM_023110.2(FGFR1): c.600C> T (p.Asp200=) single nucleotide variant Benign/Likely benign rs17175898 GRCh38 Chromosome 8, 38427942: 38427942
39 FGFR1 NM_023110.2(FGFR1): c.2262G> A (p.Leu754=) single nucleotide variant Benign/Likely benign rs56341011 GRCh37 Chromosome 8, 38271466: 38271466
40 FGFR1 NM_023110.2(FGFR1): c.2262G> A (p.Leu754=) single nucleotide variant Benign/Likely benign rs56341011 GRCh38 Chromosome 8, 38413948: 38413948
41 FGFR1 NM_023105.2(FGFR1): c.1444delG (p.Glu482Serfs) deletion Pathogenic rs1060499663 GRCh37 Chromosome 8, 38273531: 38273531
42 FGFR1 NM_023105.2(FGFR1): c.1444delG (p.Glu482Serfs) deletion Pathogenic rs1060499663 GRCh38 Chromosome 8, 38416013: 38416013
43 FGFR1 NM_023110.2(FGFR1): c.2059G> C (p.Gly687Arg) single nucleotide variant Likely pathogenic rs727505376 GRCh38 Chromosome 8, 38414279: 38414279
44 FGFR1 NM_023110.2(FGFR1): c.2059G> C (p.Gly687Arg) single nucleotide variant Likely pathogenic rs727505376 GRCh37 Chromosome 8, 38271797: 38271797
45 FGFR1 NM_023110.2(FGFR1): c.1430+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 38275745: 38275745
46 FGFR1 NM_023110.2(FGFR1): c.1430+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 8, 38418227: 38418227
47 FGFR1 NM_023110.2(FGFR1): c.160C> T (p.Arg54Cys) single nucleotide variant Uncertain significance rs778531708 GRCh37 Chromosome 8, 38287398: 38287398
48 FGFR1 NM_023110.2(FGFR1): c.160C> T (p.Arg54Cys) single nucleotide variant Uncertain significance rs778531708 GRCh38 Chromosome 8, 38429880: 38429880
49 FGFR1 NM_023110.2(FGFR1): c.1888C> T (p.Leu630=) single nucleotide variant Benign rs746123129 GRCh37 Chromosome 8, 38272386: 38272386
50 FGFR1 NM_023110.2(FGFR1): c.1888C> T (p.Leu630=) single nucleotide variant Benign rs746123129 GRCh38 Chromosome 8, 38414868: 38414868

Copy number variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 242389 8 7200000 45200000 Microdeletion Kallmann Syndrome 2

Expression for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 2 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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