HH5
MCID: HYP549
MIFTS: 35

Hypogonadotropic Hypogonadism 5 with or Without Anosmia (HH5)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 5 with or Without Anosmia 57 12 72 29 13 6 15
Kallmann Syndrome 5 72 70
Hh5 57 72
Hypogonadism, Hypogonadotropic, Type 5 with/without Anosmia 39
Hypogonadotropic Hypogonadism 5 Without Anosmia 6
Kal5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
hypogonadotropic hypogonadism 5 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090084
OMIM® 57 612370
OMIM Phenotypic Series 57 PS147950
MeSH 44 D017436
ICD10 32 E23.0
UMLS 70 C2675302

Summaries for Hypogonadotropic Hypogonadism 5 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).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950. (612370) (Updated 20-May-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 5 with or Without Anosmia, also known as kallmann syndrome 5, is related to kallmann syndrome 5 and papillorenal syndrome. An important gene associated with Hypogonadotropic Hypogonadism 5 with or Without Anosmia is CHD7 (Chromodomain Helicase DNA Binding Protein 7). Affiliated tissues include pituitary, and related phenotypes are anosmia and sensorineural hearing impairment

Disease Ontology : 12 A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has material basis in heterozygous mutation in the CHD7 gene on chromosome 8q12.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 5 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 5 with or Without Anosmia

Diseases in the Hypogonadotropic Hypogonadism 7 with or Without Anosmia family:

Hypogonadotropic Hypogonadism 2 with or Without Anosmia Hypogonadotropic Hypogonadism 23 Without Anosmia
Hypogonadotropic Hypogonadism 24 Without Anosmia Hypogonadotropic Hypogonadism 3 with or Without Anosmia
Hypogonadotropic Hypogonadism 1 with or Without Anosmia Hypogonadotropic Hypogonadism 4 with or Without Anosmia
Hypogonadotropic Hypogonadism 5 with or Without Anosmia Hypogonadotropic Hypogonadism 6 with or Without Anosmia
Hypogonadotropic Hypogonadism 8 with or Without Anosmia Hypogonadotropic Hypogonadism 9 with or Without Anosmia
Hypogonadotropic Hypogonadism 10 with or Without Anosmia Hypogonadotropic Hypogonadism 11 with or Without Anosmia
Hypogonadotropic Hypogonadism 12 with or Without Anosmia Hypogonadotropic Hypogonadism 13 with or Without Anosmia
Hypogonadotropic Hypogonadism 14 with or Without Anosmia Hypogonadotropic Hypogonadism 15 with or Without Anosmia
Hypogonadotropic Hypogonadism 16 with or Without Anosmia Hypogonadotropic Hypogonadism 17 with or Without Anosmia
Hypogonadotropic Hypogonadism 18 with or Without Anosmia Hypogonadotropic Hypogonadism 19 with or Without Anosmia
Hypogonadotropic Hypogonadism 20 with or Without Anosmia Hypogonadotropic Hypogonadism 21 with or Without Anosmia
Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 kallmann syndrome 5 11.4
2 papillorenal syndrome 10.0 FRAS1 CHD7
3 anus, imperforate 10.0 FRAS1 CHD7
4 townes-brocks syndrome 9.9 FRAS1 CHD7
5 branchiootorenal syndrome 9.9 FRAS1 CHD7
6 microphthalmia, syndromic 3 9.9 CHD7 BARX1
7 vesicoureteral reflux 1 9.9 FRAS1 CHD7
8 pyloric stenosis 9.9 CHD7 BARX1
9 renal hypodysplasia/aplasia 1 9.8 FRAS1 CHD7
10 coloboma of macula 9.8 FRAS1 CHD7
11 orofacial cleft 9.6 CHD7 BARX1
12 fraser syndrome 1 9.6 FRAS1 EPG5 BARX1

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia:



Diseases related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 anosmia 31 frequent (33%) HP:0000458
2 sensorineural hearing impairment 31 HP:0000407
3 cleft palate 31 HP:0000175
4 cryptorchidism 31 HP:0000028
5 cleft lip 31 HP:0410030
6 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Ears:
sensorineural deafness

Head And Neck Nose:
hyposmia or anosmia (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
absent puberty
low serum testosterone
low serum gonadotropins

Genitourinary Internal Genitalia Female:
hypoestrogenic amenorrhea

Clinical features from OMIM®:

612370 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.55 BARX1 CHD7 DIS3L2 EPG5 FRAS1
2 mortality/aging MP:0010768 9.35 BARX1 CHD7 DIS3L2 EPG5 FRAS1
3 skeleton MP:0005390 8.92 CHD7 DIS3L2 EPG5 FRAS1

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 29 CHD7

Anatomical Context for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

40
Pituitary

Publications for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

(show all 12)
# Title Authors PMID Year
1
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 57 6
18834967 2008
2
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 57 6
18074359 2008
3
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 6 57
17661815 2007
4
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. 6
26538304 2016
5
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. 57
25985275 2015
6
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. 6
22033296 2012
7
CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 6
21931733 2011
8
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
9
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 6
16155193 2006
10
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 6
15300250 2004
11
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes. 61
33719213 2021
12
The psychosocial impact of Klinefelter syndrome--a 10 year review. 61
16759035 2006

Variations for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

6 (show top 50) (show all 243)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD7 NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) SNV Pathogenic 2033 rs121434344 GRCh37: 8:61728948-61728948
GRCh38: 8:60816389-60816389
2 CHD7 NM_017780.4(CHD7):c.2613+5G>A SNV Pathogenic 2035 rs202143667 GRCh37: 8:61729065-61729065
GRCh38: 8:60816506-60816506
3 CHD7 NM_017780.4(CHD7):c.8456_8457CT[1] (p.Leu2820fs) Microsatellite Pathogenic 267364 rs886040962 GRCh37: 8:61777954-61777955
GRCh38: 8:60865395-60865396
4 CHD7 NM_017780.4(CHD7):c.164A>G (p.His55Arg) SNV Pathogenic 2036 rs121434345 GRCh37: 8:61654155-61654155
GRCh38: 8:60741596-60741596
5 CHD7 NM_017780.4(CHD7):c.2442+5G>C SNV Pathogenic 2034 rs387906271 GRCh37: 8:61714157-61714157
GRCh38: 8:60801598-60801598
6 CHD7 NM_017780.4(CHD7):c.7123del (p.Ser2375fs) Deletion Pathogenic 620060 GRCh37: 8:61768720-61768720
GRCh38: 8:60856161-60856161
7 CHD7 NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) SNV Pathogenic 95781 rs200220845 GRCh37: 8:61734586-61734586
GRCh38: 8:60822027-60822027
8 CHD7 NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) SNV Pathogenic 158307 rs587783450 GRCh37: 8:61765441-61765441
GRCh38: 8:60852882-60852882
9 CHD7 NM_017780.4(CHD7):c.5405-17G>A SNV Pathogenic 195978 rs794727423 GRCh37: 8:61763035-61763035
GRCh38: 8:60850476-60850476
10 CHD7 NM_017780.4(CHD7):c.5405-7G>A SNV Pathogenic 95795 rs398124321 GRCh37: 8:61763045-61763045
GRCh38: 8:60850486-60850486
11 CHD7 NM_017780.4(CHD7):c.8006dup (p.Pro2670fs) Duplication Pathogenic 818212 rs1586462917 GRCh37: 8:61775140-61775141
GRCh38: 8:60862581-60862582
12 CHD7 NM_017780.4(CHD7):c.7701_7702del (p.Arg2568fs) Microsatellite Pathogenic 973215 GRCh37: 8:61773551-61773552
GRCh38: 8:60860992-60860993
13 CHD7 NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) SNV Pathogenic 2022 rs121434338 GRCh37: 8:61735186-61735186
GRCh38: 8:60822627-60822627
14 CHD7 NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) SNV Pathogenic 267423 rs886040985 GRCh37: 8:61736402-61736402
GRCh38: 8:60823843-60823843
15 CHD7 NM_017780.4(CHD7):c.519del (p.Pro174fs) Deletion Pathogenic 1032765 GRCh37: 8:61654510-61654510
GRCh38: 8:60741951-60741951
16 CHD7 NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) SNV Pathogenic 488680 rs1554603970 GRCh37: 8:61765130-61765130
GRCh38: 8:60852571-60852571
17 CHD7 NM_017780.4(CHD7):c.5C>A (p.Ala2Glu) SNV Likely pathogenic 1028059 GRCh37: 8:61653996-61653996
GRCh38: 8:60741437-60741437
18 CHD7 NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) SNV Likely pathogenic 267424 rs768184220 GRCh37: 8:61736438-61736438
GRCh38: 8:60823879-60823879
19 CHD7 NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) SNV Likely pathogenic 418124 rs1064793083 GRCh37: 8:61741241-61741241
GRCh38: 8:60828682-60828682
20 CHD7 NM_017780.4(CHD7):c.5401C>A (p.His1801Asn) SNV Likely pathogenic 430606 rs1131692039 GRCh37: 8:61761710-61761710
GRCh38: 8:60849151-60849151
21 CHD7 NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe) SNV Likely pathogenic 265994 rs886039881 GRCh37: 8:61734382-61734382
GRCh38: 8:60821823-60821823
22 CHD7 NM_017780.4(CHD7):c.-230G>C SNV Uncertain significance 363438 rs886063030 GRCh37: 8:61591586-61591586
GRCh38: 8:60679027-60679027
23 CHD7 NM_017780.4(CHD7):c.-249C>G SNV Uncertain significance 363437 rs886063029 GRCh37: 8:61591567-61591567
GRCh38: 8:60679008-60679008
24 CHD7 NM_017780.4(CHD7):c.*505C>T SNV Uncertain significance 363495 rs886063046 GRCh37: 8:61778997-61778997
GRCh38: 8:60866438-60866438
25 CHD7 NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) SNV Uncertain significance 260916 rs376063472 GRCh37: 8:61777820-61777820
GRCh38: 8:60865261-60865261
26 CHD7 NM_017780.4(CHD7):c.*1698T>G SNV Uncertain significance 363510 rs544498983 GRCh37: 8:61780190-61780190
GRCh38: 8:60867631-60867631
27 CHD7 NM_017780.4(CHD7):c.-472G>A SNV Uncertain significance 363421 rs865775134 GRCh37: 8:61591344-61591344
GRCh38: 8:60678785-60678785
28 CHD7 NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) SNV Uncertain significance 363446 rs773039925 GRCh37: 8:61655414-61655414
GRCh38: 8:60742855-60742855
29 CHD7 NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) SNV Uncertain significance 363471 rs886063038 GRCh37: 8:61765468-61765468
GRCh38: 8:60852909-60852909
30 CHD7 NM_017780.4(CHD7):c.*731G>A SNV Uncertain significance 363498 rs886063049 GRCh37: 8:61779223-61779223
GRCh38: 8:60866664-60866664
31 CHD7 NM_017780.4(CHD7):c.5211-11T>G SNV Uncertain significance 363464 rs886063036 GRCh37: 8:61761063-61761063
GRCh38: 8:60848504-60848504
32 CHD7 NM_017780.4(CHD7):c.202C>T (p.His68Tyr) SNV Uncertain significance 363440 rs886063032 GRCh37: 8:61654193-61654193
GRCh38: 8:60741634-60741634
33 CHD7 NM_017780.4(CHD7):c.-466A>G SNV Uncertain significance 363433 rs71513464 GRCh37: 8:61591350-61591350
GRCh38: 8:60678791-60678791
34 CHD7 NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val) SNV Uncertain significance 363474 rs886063039 GRCh37: 8:61765753-61765753
GRCh38: 8:60853194-60853194
35 CHD7 NM_017780.4(CHD7):c.-469G>A SNV Uncertain significance 363423 rs868087197 GRCh37: 8:61591347-61591347
GRCh38: 8:60678788-60678788
36 CHD7 NM_017780.4(CHD7):c.*293G>C SNV Uncertain significance 363493 rs886063044 GRCh37: 8:61778785-61778785
GRCh38: 8:60866226-60866226
37 CHD7 NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) SNV Uncertain significance 363479 rs201514840 GRCh37: 8:61769320-61769320
GRCh38: 8:60856761-60856761
38 CHD7 NM_017780.4(CHD7):c.1977C>T (p.Pro659=) SNV Uncertain significance 363448 rs886063034 GRCh37: 8:61693870-61693870
GRCh38: 8:60781311-60781311
39 CHD7 NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) SNV Uncertain significance 363443 rs371930390 GRCh37: 8:61654746-61654746
GRCh38: 8:60742187-60742187
40 CHD7 NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) SNV Uncertain significance 95804 rs376020564 GRCh37: 8:61765797-61765797
GRCh38: 8:60853238-60853238
41 CHD7 NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) SNV Uncertain significance 197042 rs202039728 GRCh37: 8:61778170-61778170
GRCh38: 8:60865611-60865611
42 CHD7 NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) SNV Uncertain significance 363481 rs761409446 GRCh37: 8:61777711-61777711
GRCh38: 8:60865152-60865152
43 CHD7 NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) SNV Uncertain significance 363487 rs748655442 GRCh37: 8:61778353-61778353
GRCh38: 8:60865794-60865794
44 CHD7 NM_017780.4(CHD7):c.*1577C>G SNV Uncertain significance 363506 rs886063052 GRCh37: 8:61780069-61780069
GRCh38: 8:60867510-60867510
45 CHD7 NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) SNV Uncertain significance 363459 rs767259131 GRCh37: 8:61736496-61736496
GRCh38: 8:60823937-60823937
46 CHD7 NM_017780.4(CHD7):c.-481G>A SNV Uncertain significance 363420 rs886063024 GRCh37: 8:61591335-61591335
GRCh38: 8:60678776-60678776
47 CHD7 NM_017780.4(CHD7):c.*659T>C SNV Uncertain significance 363497 rs886063048 GRCh37: 8:61779151-61779151
GRCh38: 8:60866592-60866592
48 CHD7 NM_017780.4(CHD7):c.5343T>C (p.Val1781=) SNV Uncertain significance 363465 rs886063037 GRCh37: 8:61761652-61761652
GRCh38: 8:60849093-60849093
49 CHD7 NM_017780.4(CHD7):c.3779-10A>G SNV Uncertain significance 363460 rs886063035 GRCh37: 8:61748622-61748622
GRCh38: 8:60836063-60836063
50 CHD7 NM_017780.4(CHD7):c.*839A>G SNV Uncertain significance 363499 rs886063050 GRCh37: 8:61779331-61779331
GRCh38: 8:60866772-60866772

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

72 (show all 17)
# Symbol AA change Variation ID SNP ID
1 CHD7 p.His55Arg VAR_054623 rs121434345
2 CHD7 p.Ser834Phe VAR_054624 rs121434344
3 CHD7 p.Pro2880Leu VAR_054626 rs113938624
4 CHD7 p.Lys2948Glu VAR_054627 rs146782477
5 CHD7 p.Gly1684Ser VAR_068134 rs155460246
6 CHD7 p.Gly2108Arg VAR_068144 rs121434343
7 CHD7 p.Arg758His VAR_072956 rs202208393
8 CHD7 p.Arg886Trp VAR_072957 rs772260091
9 CHD7 p.Arg944Ser VAR_072958 rs587783435
10 CHD7 p.Asn1030Ser VAR_072959 rs886041167
11 CHD7 p.Lys1291Glu VAR_072960
12 CHD7 p.Leu1375Phe VAR_072962
13 CHD7 p.Met1838Val VAR_072965 rs759918327
14 CHD7 p.Arg1912Gly VAR_072966
15 CHD7 p.Arg2065Cys VAR_072967
16 CHD7 p.Arg2398Gly VAR_072968
17 CHD7 p.Gln2833Pro VAR_072969

Expression for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 5 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Biological processes related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 8.62 FRAS1 CHD7

Sources for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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