BAMS
MCID: BSM002
MIFTS: 41

Bosma Arhinia Microphthalmia Syndrome (BAMS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Bosma Arhinia Microphthalmia Syndrome

MalaCards integrated aliases for Bosma Arhinia Microphthalmia Syndrome:

Name: Bosma Arhinia Microphthalmia Syndrome 56 52 25 73
Arhinia Choanal Atresia Microphthalmia 52 25 73 29 6
Arhinia, Choanal Atresia, Microphthalmia, and Hypogonadotropic Hypogonadism 56 25 73
Bams 56 25 73
Hyposmia-Nasal and Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome 25 58
Congenital Absence of Nose and Anterior Nasopharynx 52 73
Arhinia, Choanal Atresia, and Microphthalmia 25 71
Bosma Henkin Christiansen Syndrome 52 73
Arrhinia-Choanal Atresia-Microphthalmia Syndrome 58
Bosma Arhinia-Microphthalmia Syndrome 58
Bosma-Henkin-Christiansen Syndrome 58
Ruprecht Majewski Syndrome 25
Gifford-Bosma Syndrome 25
Bosma Syndrome 25
Bam Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
arrhinia-choanal atresia-microphthalmia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;
hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
marked intra- and interfamilial variability
incomplete penetrance has been observed


HPO:

31
bosma arhinia microphthalmia syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Bosma Arhinia Microphthalmia Syndrome

Genetics Home Reference : 25 Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty. The key feature of BAMS is arhinia, which is the absence of an external nose. While most people with BAMS are born without a nose, some affected individuals have a severely underdeveloped (hypoplastic) nose. Affected individuals may also be missing the brain structure involved in the sense of smell (olfactory bulb). Because of these abnormalities, people with BAMS have an impaired ability to smell and, consequently, to taste. In most people with BAMS, the eyeballs are abnormally small (microphthalmia) or absent (anophthalmia), which causes severe vision impairment or blindness. Additional eye abnormalities common in BAMS include a gap or hole in one of several structures of the eye (coloboma) and clouding of the lenses of the eyes (cataracts). Additional head and face abnormalities that can occur in people with BAMS include a high arch or opening in the roof of the mouth (high-arched or cleft palate), absence of the sinuses behind the nose (paranasal sinuses), blockage of the nasal passages (choanal atresia), narrowing of the tear ducts (nasolacrimal duct stenosis), or a small upper jaw (hypoplastic maxilla). Many of these abnormalities contribute to difficulty breathing, particularly in affected babies. Some affected individuals have abnormal external ears. Individuals with BAMS also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, these hormone problems often result in delayed puberty. Affected males may also have underdeveloped reproductive tissues and undescended testes (cryptorchidism).

MalaCards based summary : Bosma Arhinia Microphthalmia Syndrome, also known as arhinia choanal atresia microphthalmia, is related to microphthalmia and muscular dystrophy. An important gene associated with Bosma Arhinia Microphthalmia Syndrome is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Affiliated tissues include eye, bone and olfactory bulb, and related phenotypes are inguinal hernia and cataract

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1135 Definition A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Visit the Orphanet disease page for more resources.

OMIM : 56 Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence (summary by Graham and Lee, 2006). Also see absence of nasal bones (161480). (603457)

UniProtKB/Swiss-Prot : 73 Bosma arhinia microphthalmia syndrome: An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence.

Related Diseases for Bosma Arhinia Microphthalmia Syndrome

Diseases related to Bosma Arhinia Microphthalmia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 10.9
2 muscular dystrophy 10.8
3 facioscapulohumeral muscular dystrophy 1 10.7
4 facioscapulohumeral muscular dystrophy 2 10.7
5 hypogonadotropic hypogonadism 10.6
6 hypogonadism 10.6
7 hypogonadotropism 10.6
8 kala-azar 1 10.5
9 leishmaniasis 10.5
10 cutaneous leishmaniasis 10.5
11 coloboma of macula 10.4
12 cryptorchidism, unilateral or bilateral 10.4
13 inguinal hernia 10.4
14 colobomatous microphthalmia 10.4
15 hypertelorism 10.4
16 choanal atresia, posterior 10.4
17 acute kidney failure 10.3
18 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
19 spinal cord injury 10.2
20 burkitt lymphoma 10.1
21 leukemia, acute lymphoblastic 10.1
22 helix syndrome 10.1
23 lymphocytic leukemia 10.1
24 adult respiratory distress syndrome 10.1
25 post-traumatic stress disorder 10.1
26 substance abuse 10.1
27 kidney disease 10.1
28 acute stress disorder 10.1
29 compartment syndrome 10.1
30 pfeiffer syndrome 9.9
31 hair whorl 9.9
32 pheochromocytoma 9.9
33 retinoblastoma 9.9
34 temperature-sensitive lethal mutation 9.9
35 celiac disease 1 9.9
36 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
37 mycosis fungoides 9.9
38 myeloma, multiple 9.9
39 lesch-nyhan syndrome 9.9
40 nasopharyngeal carcinoma 9.9
41 bile acid malabsorption, primary 9.9
42 hyperphosphatemia 9.9
43 paraganglioma 9.9
44 colorectal adenocarcinoma 9.9
45 adrenal gland pheochromocytoma 9.9
46 lymphoma 9.9
47 lymphocytic colitis 9.9
48 mucositis 9.9
49 thalassemia 9.9
50 disseminated intravascular coagulation 9.9

Graphical network of the top 20 diseases related to Bosma Arhinia Microphthalmia Syndrome:



Diseases related to Bosma Arhinia Microphthalmia Syndrome

Symptoms & Phenotypes for Bosma Arhinia Microphthalmia Syndrome

Human phenotypes related to Bosma Arhinia Microphthalmia Syndrome:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 58 31 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000023
2 cataract 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000518
3 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
4 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
5 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000568
6 anosmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000458
7 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
8 hyposmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004409
9 aplasia/hypoplasia involving the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0009924
10 absent nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0100596
11 misalignment of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000692
12 abnormality of the midface 58 31 hallmark (90%) Very frequent (99-80%) HP:0000309
13 failure of eruption of permanent teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006352
14 single naris 58 31 hallmark (90%) Very frequent (99-80%) HP:0009932
15 hypoplasia of the olfactory bulb 58 31 hallmark (90%) Very frequent (99-80%) HP:0040326
16 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
17 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
18 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
19 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
20 abdominal wall muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009023
21 cleft palate 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000175
22 hypogonadotrophic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000044
23 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
24 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
25 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
26 anophthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000528
27 lacrimation abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000632
28 amblyopia 58 31 frequent (33%) Frequent (79-30%) HP:0000646
29 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
30 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
31 abnormality of the sense of smell 58 31 frequent (33%) Frequent (79-30%) HP:0004408
32 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
33 submucous cleft hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000176
34 hearing impairment 31 occasional (7.5%) HP:0000365
35 dental malocclusion 31 occasional (7.5%) HP:0000689
36 corneal opacity 31 occasional (7.5%) HP:0007957
37 hypospadias 31 occasional (7.5%) HP:0000047
38 synophrys 31 occasional (7.5%) HP:0000664
39 hypoplastic labia majora 31 occasional (7.5%) HP:0000059
40 cleft lip 31 occasional (7.5%) HP:0410030
41 agenesis of permanent teeth 31 occasional (7.5%) HP:0006349
42 hypoplasia of teeth 31 occasional (7.5%) HP:0000685
43 primary amenorrhea 31 HP:0000786
44 micropenis 31 HP:0000054
45 coloboma 31 HP:0000589
46 external genital hypoplasia 58 Very frequent (99-80%)
47 aplasia of the nose 31 HP:0009927

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
cataract (in some patients)
absent or blind nasolacrimal ducts
microphthalmia (including clinical anophthalmia)
coloboma (iris, retina, and/or optic nerve)
more
Head And Neck Mouth:
cleft palate
high-arched palate
cleft lip (rare)

Genitourinary External Genitalia Male:
micropenis
hypospadias (rare)
inguinal hernia (in some patients)

Head And Neck Face:
midface hypoplasia

Genitourinary:
hypogonadotropic hypogonadism

Head And Neck Ears:
hearing loss (in some patients)
dysmorphic ears (in some patients)

Respiratory:
breathing difficulties due to choanal atresia (in some patients)

Genitourinary External Genitalia Female:
hypoplastic labia majora (in some patients)
inguinal hernia (rare)

Neurologic Central Nervous System:
olfactory bulb agenesis
normal intelligence (in most patients)

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Internal Genitalia Female:
primary amenorrhea

Head And Neck Nose:
choanal atresia
anosmia
arhinia

Skeletal Skull:
hypoplastic maxilla
absent nasal bones
absent nasal spine of frontal bone
absent vomer
absent nasal conchae
more
Endocrine Features:
hypogonadotropic hypogonadism
low testosterone levels
low luteinizing hormone (lh) levels
low follicle stimulating hormone (fsh) levels
low estrogen levels

Head And Neck Teeth:
malocclusion (in some patients)
crowded dentition (in some patients)
missing teeth (in some patients)
hypoplastic teeth (in some patients)

Chest Breasts:
absent thelarche (in some patients)

Skeletal:
decreased bone mineralization (in some patients)

Clinical features from OMIM:

603457

Drugs & Therapeutics for Bosma Arhinia Microphthalmia Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility Recruiting NCT01511588

Search NIH Clinical Center for Bosma Arhinia Microphthalmia Syndrome

Genetic Tests for Bosma Arhinia Microphthalmia Syndrome

Genetic tests related to Bosma Arhinia Microphthalmia Syndrome:

# Genetic test Affiliating Genes
1 Arhinia Choanal Atresia Microphthalmia 29 SMCHD1

Anatomical Context for Bosma Arhinia Microphthalmia Syndrome

MalaCards organs/tissues related to Bosma Arhinia Microphthalmia Syndrome:

40
Eye, Bone, Olfactory Bulb, Brain, Testes, Retina

Publications for Bosma Arhinia Microphthalmia Syndrome

Articles related to Bosma Arhinia Microphthalmia Syndrome:

(show all 21)
# Title Authors PMID Year
1
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 61 56 6
28067909 2017
2
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. 61 56 6
28067911 2017
3
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. 61 56 6
26842768 2016
4
Bosma arhinia microphthalmia syndrome. 61 56 6
16353241 2006
5
Familial arhinia, choanal atresia, and microphthalmia. 61 6 56
8723126 1996
6
Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. 56 6
26440771 2016
7
Congenital arhinia. 6 56
23852095 2014
8
Hypogonadotropic hypogonadism presenting with arhinia: a case report. 56 6
23432817 2013
9
Congenital absence of the nose: a case report and literature review. 6 56
11321738 2001
10
Simultaneous construction of an internal and external nose in an infant with arhinia. 6 56
8446727 1993
11
Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. 56 6
6802865 1981
12
[Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)]. 6 56
672092 1978
13
Congenital absence of the nose and anterior nasopharynx. Report of two cases. 6 56
5032329 1972
14
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 6
23143600 2012
15
Congenital arhinia: molecular-genetic analysis of five patients. 56
17304554 2007
16
Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2). 56
15372519 2004
17
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. 61
31243061 2019
18
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. 61
30698748 2019
19
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. 61
29980640 2018
20
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. 61
29748383 2018
21
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 61
28546579 2017

Variations for Bosma Arhinia Microphthalmia Syndrome

ClinVar genetic disease variations for Bosma Arhinia Microphthalmia Syndrome:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMCHD1 NM_015295.2(SMCHD1):c.1034A>G (p.Gln345Arg)SNV Pathogenic 375760 rs1057519639 18:2694685-2694685 18:2694687-2694687
2 SMCHD1 NM_015295.2(SMCHD1):c.1043A>G (p.His348Arg)SNV Pathogenic 375761 rs1057519640 18:2697032-2697032 18:2697034-2697034
3 SMCHD1 NM_015295.2(SMCHD1):c.423G>C (p.Leu141Phe)SNV Pathogenic 375762 rs1057519641 18:2667029-2667029 18:2667030-2667030
4 SMCHD1 NM_015295.2(SMCHD1):c.1199A>T (p.Gln400Leu)SNV Pathogenic 375763 rs1057519642 18:2697896-2697896 18:2697898-2697898
5 SMCHD1 NM_015295.2(SMCHD1):c.408A>C (p.Glu136Asp)SNV Pathogenic 375764 rs1057519643 18:2667014-2667014 18:2667015-2667015
6 SMCHD1 NM_015295.2(SMCHD1):c.410G>A (p.Gly137Glu)SNV Pathogenic 375765 rs1057519644 18:2667016-2667016 18:2667017-2667017
7 SMCHD1 NM_015295.2(SMCHD1):c.403A>T (p.Ser135Cys)SNV Pathogenic 375766 rs1057519645 18:2667009-2667009 18:2667010-2667010
8 SMCHD1 NM_015295.2(SMCHD1):c.404G>A (p.Ser135Asn)SNV Pathogenic 375767 rs1057519646 18:2667010-2667010 18:2667011-2667011
9 SMCHD1 NM_015295.2(SMCHD1):c.404G>T (p.Ser135Ile)SNV Pathogenic 375768 rs1057519646 18:2667010-2667010 18:2667011-2667011
10 SMCHD1 NM_015295.2(SMCHD1):c.320T>C (p.Leu107Pro)SNV Pathogenic 431461 rs1135402737 18:2666926-2666926 18:2666927-2666927
11 SMCHD1 NM_015295.2(SMCHD1):c.386T>A (p.Met129Lys)SNV Pathogenic 431462 rs1135402738 18:2666992-2666992 18:2666993-2666993
12 SMCHD1 NM_015295.2(SMCHD1):c.415A>C (p.Asn139His)SNV Pathogenic 431463 rs1135402739 18:2667021-2667021 18:2667022-2667022
13 SMCHD1 NM_015295.2(SMCHD1):c.423G>T (p.Leu141Phe)SNV Pathogenic 431464 rs1057519641 18:2667029-2667029 18:2667030-2667030
14 SMCHD1 NM_015295.2(SMCHD1):c.511T>G (p.Phe171Val)SNV Pathogenic 431465 rs1135402740 18:2674017-2674017 18:2674018-2674018
15 SMCHD1 NM_015295.2(SMCHD1):c.725C>G (p.Ala242Gly)SNV Pathogenic 431466 rs1135402741 18:2688478-2688478 18:2688480-2688480
16 SMCHD1 NM_015295.2(SMCHD1):c.1259A>T (p.Asp420Val)SNV Pathogenic 431467 rs1135402742 18:2697956-2697956 18:2697958-2697958
17 SMCHD1 NM_015295.2(SMCHD1):c.1417G>C (p.Glu473Gln)SNV Pathogenic 431468 rs1135402743 18:2700611-2700611 18:2700613-2700613
18 SMCHD1 NM_015295.2(SMCHD1):c.1568C>A (p.Thr523Lys)SNV Pathogenic 431469 rs1135402744 18:2700837-2700837 18:2700839-2700839
19 SMCHD1 NM_015295.2(SMCHD1):c.1571A>G (p.Asn524Ser)SNV Pathogenic 431470 rs1135402745 18:2700840-2700840 18:2700842-2700842
20 SMCHD1 NM_015295.2(SMCHD1):c.1655G>A (p.Arg552Gln)SNV Uncertain significance 282418 rs886042392 18:2703697-2703697 18:2703699-2703699

UniProtKB/Swiss-Prot genetic disease variations for Bosma Arhinia Microphthalmia Syndrome:

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 SMCHD1 p.Leu107Pro VAR_078869 rs113540273
2 SMCHD1 p.Met129Lys VAR_078870 rs113540273
3 SMCHD1 p.Ala134Ser VAR_078871
4 SMCHD1 p.Ser135Cys VAR_078872 rs105751964
5 SMCHD1 p.Ser135Ile VAR_078873 rs105751964
6 SMCHD1 p.Ser135Asn VAR_078874 rs105751964
7 SMCHD1 p.Glu136Asp VAR_078875 rs105751964
8 SMCHD1 p.Glu136Gly VAR_078876
9 SMCHD1 p.Gly137Glu VAR_078877 rs105751964
10 SMCHD1 p.Asn139His VAR_078879 rs113540273
11 SMCHD1 p.Leu141Phe VAR_078880 rs105751964
12 SMCHD1 p.Phe171Val VAR_078881 rs113540274
13 SMCHD1 p.Ala242Gly VAR_078884 rs113540274
14 SMCHD1 p.Trp342Ser VAR_078886
15 SMCHD1 p.Gln345Arg VAR_078888 rs105751963
16 SMCHD1 p.His348Arg VAR_078889 rs105751964
17 SMCHD1 p.Gln400Leu VAR_078890 rs105751964
18 SMCHD1 p.Asp420Val VAR_078891 rs113540274
19 SMCHD1 p.Glu473Gln VAR_078894 rs113540274
20 SMCHD1 p.Lys518Glu VAR_078895
21 SMCHD1 p.Thr523Lys VAR_078896 rs113540274
22 SMCHD1 p.Asn524Ser VAR_078897 rs113540274
23 SMCHD1 p.Arg552Gln VAR_078899 rs886042392

Expression for Bosma Arhinia Microphthalmia Syndrome

Search GEO for disease gene expression data for Bosma Arhinia Microphthalmia Syndrome.

Pathways for Bosma Arhinia Microphthalmia Syndrome

GO Terms for Bosma Arhinia Microphthalmia Syndrome

Sources for Bosma Arhinia Microphthalmia Syndrome

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