GBBB1
MCID: OPT051
MIFTS: 46

Opitz Gbbb Syndrome, Type I (GBBB1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Opitz Gbbb Syndrome, Type I

MalaCards integrated aliases for Opitz Gbbb Syndrome, Type I:

Name: Opitz Gbbb Syndrome, Type I 57 13
Opitz Syndrome 57 75 74
Hypertelorism with Esophageal Abnormality and Hypospadias 57 74
Hypertelorism-Hypospadias Syndrome 57 74
Telecanthus-Hypospadias Syndrome 57 74
Opitz Gbbb Syndrome, X-Linked 57 72
Gbbb1 57 74
Bbbg1 57 74
Osx 57 74
Os 57 74
Opitz Bbbg Syndrome, Type I; Bbbg1 57
Opitz-G Syndrome, Type I; Ogs1 57
Opitz Syndrome, X-Linked; Osx 57
X-Linked Opitz G/bbb Syndrome 59
X-Linked Opitz Bbb/g Syndrome 59
Opitz Gbbb Syndrome X-Linked 74
Opitz Bbbg Syndrome, Type I 57
Opitz Bbbg Syndrome Type I 74
Opitz Gbbb Syndrome Type I 74
Opitz Syndrome, X-Linked 57
Opitz-G Syndrome, Type I 57
Opitz-G Syndrome, Type 2 72
X-Linked Opitz Syndrome 59
Opitz-G Syndrome Type I 74
Opitz Syndrome X-Linked 74
Opitz Gbbb Syndrome 1 74
Opitz Syndrome; Os 57
Gggb1 74
Ogs1 57
Xlos 59

Characteristics:

OMIM:

57
Miscellaneous:
genetic heterogeneity (see )

Inheritance:
x-linked recessive


HPO:

32
opitz gbbb syndrome, type i:
Inheritance heterogeneous x-linked recessive inheritance


Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C2936904
Orphanet 59 ORPHA306597
UMLS 72 C1801950 C2936904

Summaries for Opitz Gbbb Syndrome, Type I

OMIM : 57 The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005). This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. (300000)

MalaCards based summary : Opitz Gbbb Syndrome, Type I, also known as opitz syndrome, is related to smith-lemli-opitz syndrome and bohring-opitz syndrome. An important gene associated with Opitz Gbbb Syndrome, Type I is MID1 (Midline 1). The drugs Simvastatin and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and brain, and related phenotypes are hypertelorism and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 74 Opitz GBBB syndrome 1: A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects.

Wikipedia : 75 Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from Greek metopon,... more...

Related Diseases for Opitz Gbbb Syndrome, Type I

Diseases in the Opitz-Gbbb Syndrome family:

Opitz Gbbb Syndrome, Type Ii Opitz Gbbb Syndrome, Type I

Diseases related to Opitz Gbbb Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 577)
# Related Disease Score Top Affiliating Genes
1 smith-lemli-opitz syndrome 12.9
2 bohring-opitz syndrome 12.8
3 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.3
4 opitz gbbb syndrome, type ii 12.1
5 opitz-gbbb syndrome 11.8
6 osteogenic sarcoma 11.6
7 baculum, congenital absence of 11.5
8 x-linked opitz g/bbb syndrome 11.5
9 ovarian cancer 11.5
10 c syndrome 11.5
11 early infantile epileptic encephalopathy 11.5
12 ohtahara syndrome 11.5
13 lathosterolosis 11.5
14 encephalopathy, recurrent, of childhood 11.4
15 cervix disease 11.3
16 hypospadias 1, x-linked 11.3
17 neurofaciodigitorenal syndrome 11.3
18 short syndrome 11.2
19 omenn syndrome 11.2
20 ovarian hyperstimulation syndrome 11.2
21 osteitis fibrosa 11.2
22 adenosarcoma of the uterus 11.2
23 jamaican vomiting sickness 11.2
24 greenberg dysplasia 11.1
25 hypospadias 2, x-linked 11.1
26 van buchem disease 11.1
27 waisman syndrome 11.1
28 early-onset parkinsonism-intellectual disability syndrome 11.1
29 autosomal recessive disease 10.6
30 chromosome 2q35 duplication syndrome 10.6
31 thyroiditis 10.5
32 hashimoto thyroiditis 10.5
33 microcephaly 10.5
34 alacrima, achalasia, and mental retardation syndrome 10.4
35 polydactyly 10.4
36 widow's peak 10.4
37 anus, imperforate 10.4
38 retinal degeneration 10.4
39 holoprosencephaly 10.3
40 cataract 10.3
41 osteoporosis 10.3
42 bone mineral density quantitative trait locus 8 10.3
43 bone mineral density quantitative trait locus 15 10.3
44 polydactyly, postaxial, type a1 10.3
45 ptosis 10.3
46 cleft lip 10.3
47 cleft lip/palate 10.3
48 synostosis 10.3
49 tenosynovitis 10.2
50 hirschsprung disease 1 10.2

Graphical network of the top 20 diseases related to Opitz Gbbb Syndrome, Type I:



Diseases related to Opitz Gbbb Syndrome, Type I

Symptoms & Phenotypes for Opitz Gbbb Syndrome, Type I

Human phenotypes related to Opitz Gbbb Syndrome, Type I:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 HP:0001274
3 frontal bossing 32 HP:0002007
4 high palate 32 HP:0000218
5 dysphagia 32 HP:0002015
6 global developmental delay 32 HP:0001263
7 wide nasal bridge 32 HP:0000431
8 smooth philtrum 32 HP:0000319
9 anteverted nares 32 HP:0000463
10 gastroesophageal reflux 32 HP:0002020
11 prominent forehead 32 HP:0011220
12 cleft palate 32 HP:0000175
13 cryptorchidism 32 HP:0000028
14 telecanthus 32 HP:0000506
15 hypospadias 32 HP:0000047
16 cleft upper lip 32 HP:0000204
17 anal atresia 32 HP:0002023
18 thin upper lip vermilion 32 HP:0000219
19 aspiration 32 HP:0002835
20 abnormality of cardiovascular system morphology 32 HP:0030680
21 abnormal heart morphology 32 HP:0001627
22 widow's peak 32 HP:0000349
23 posterior pharyngeal cleft 32 HP:0006783
24 abnormality of the nasopharynx 32 HP:0001739

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus

Abdomen Gastrointestinal:
dysphagia
gastroesophageal reflux
imperforate anus

Head And Neck Face:
prominent forehead
flat philtrum

Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Lung:
aspiration

Respiratory Nasopharynx:
posterior pharyngeal cleft

Neurologic Central Nervous System:
agenesis of corpus callosum
developmental delay

Head And Neck Nose:
anteverted nares
broad nasal bridge
grooved nasal tip

Head And Neck Mouth:
cleft palate
cleft lip
thin upper lip
high-arched palate

Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
widow's peak

Cardiovascular Heart:
congenital heart defect

Clinical features from OMIM:

300000

Drugs & Therapeutics for Opitz Gbbb Syndrome, Type I

Drugs for Opitz Gbbb Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2 79902-63-9 54454
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
4 Antioxidants Phase 2
5 Protective Agents Phase 2
6 Anesthetics Phase 2
7 Gastrointestinal Agents Phase 1, Phase 2
8 Cholic Acids Phase 1, Phase 2
9 Phytosterol

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Cholesterol in Autism Spectrum Disorder (ASD): Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
6 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
7 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
8 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
9 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
10 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
11 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
12 Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis Completed NCT01059201
13 Bohring-Opitz Syndrome and ASXL-Related Phenotypes Registry Recruiting NCT03303716
14 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
15 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
16 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
17 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Withdrawn NCT01413425

Search NIH Clinical Center for Opitz Gbbb Syndrome, Type I

Genetic Tests for Opitz Gbbb Syndrome, Type I

Anatomical Context for Opitz Gbbb Syndrome, Type I

MalaCards organs/tissues related to Opitz Gbbb Syndrome, Type I:

41
Heart, Bone, Brain, Skin, Liver, Eye, Testes

Publications for Opitz Gbbb Syndrome, Type I

Articles related to Opitz Gbbb Syndrome, Type I:

(show top 50) (show all 875)
# Title Authors PMID Year
1
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 38 8 71
15558842 2005
2
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 38 8 71
11030761 2000
3
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 38 8 71
9354791 1997
4
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. 38 71
21326312 2011
5
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. 38 8
15121778 2004
6
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. 38 8
12833403 2003
7
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. 38 8
11685209 2001
8
Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature. 38 8
9677070 1998
9
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. 38 8
7493033 1995
10
Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism. 38 8
2694153 1989
11
Esophageal Atresia/Tracheoesophageal Fistula Overview 71
20301753 2009
12
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. 71
17221865 2007
13
Congenital chylothorax in Opitz G/BBB syndrome. 8
16619207 2006
14
Somatostatin for intractable postoperative chylothorax in a premature infant. 8
15711803 2005
15
X-Linked Opitz G/BBB Syndrome 71
20301502 2004
16
Severe congenital chylothorax treated with octreotide. 8
15044932 2004
17
Treatment of chylothorax in a premature infant using somatostatin. 8
14566354 2003
18
[Chronic diarrhea in a 43-year-old patient]. 8
12966790 2003
19
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. 71
12545276 2003
20
Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome. 8
9843057 1998
21
Opitz oculo-genito-laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult. 8
9624301 1998
22
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. 8
8882794 1996
23
Opitz GBBB syndrome: chromosomal evidence of an X-linked form. 8
8849003 1995
24
Intraluminal Pulmonary Vein Stenosis in Children: A "New" Lesion. 38
30451723 2019
25
Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome. 38
30925529 2019
26
The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review. 38
31005410 2019
27
Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development. 38
31006630 2019
28
Maternal aripiprazole exposure interacts with 7-dehydrocholesterol reductase mutations and alters embryonic neurodevelopment. 38
30742019 2019
29
Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism? 38
30632494 2019
30
Desmosterolosis and desmosterol homeostasis in the developing mouse brain. 38
30891795 2019
31
Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. 38
31041292 2019
32
Subcellular localization of sterol biosynthesis enzymes. 38
30535733 2019
33
Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. 38
30114413 2019
34
Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome. 38
30674241 2019
35
Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders. 38
31347066 2019
36
New macular findings in individuals with biallelic KLHL7 gene mutation. 38
30997404 2019
37
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. 38
30472488 2018
38
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 38
30300710 2018
39
Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention. 38
30360379 2018
40
Plasma oxysterol profiling in children reveals 24-hydroxycholesterol as a potential marker for Autism Spectrum Disorders. 38
29730299 2018
41
Constipation, failure to thrive and recurrent abscesses: getting to the bottom of an unusual complaint. 38
30177539 2018
42
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. 38
30147881 2018
43
SULFATION PATHWAYS: Alternate steroid sulfation pathways targeted by LC-MS/MS analysis of disulfates: application to prenatal diagnosis of steroid synthesis disorders. 38
29459491 2018
44
Smith-Lemli-Opitz Mutations in Unexplained Stillbirths. 38
29433144 2018
45
Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report. 38
30092813 2018
46
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. 38
29909962 2018
47
Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation. 38
29626102 2018
48
Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis. 38
29698737 2018
49
Syndromes associated with holoprosencephaly. 38
29770994 2018
50
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. 38
29305346 2018

Variations for Opitz Gbbb Syndrome, Type I

ClinVar genetic disease variations for Opitz Gbbb Syndrome, Type I:

6 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MID1 NM_033290.4(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 X:10423082-10423082 X:10455042-10455042
2 MID1 NM_033290.4(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 X:10417749-10417749 X:10449709-10449709
3 MID1 NM_033290.4(MID1): c.1608_1611dup (p.Ser538Ter) duplication Pathogenic rs1556003095 X:10422954-10422957 X:10454914-10454917
4 MID1 NM_033290.4(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic rs1556004366 X:10427740-10427740 X:10459700-10459700
5 MID1 NM_033290.4(MID1): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs1555895704 X:10463659-10463659 X:10495619-10495619
6 MID1 NM_033290.4(MID1): c.757-1G> C single nucleotide variant Pathogenic rs1555895725 X:10463732-10463732 X:10495692-10495692
7 MID1 NM_033290.4(MID1): c.1311_1313GAT[1] (p.Met438del) short repeat Pathogenic X:10427817-10427819 X:10459777-10459779
8 MID1 MID1, 24-BP DUP duplication Pathogenic
9 MID1 NM_033290.4(MID1): c.1558dup (p.Glu520fs) duplication Pathogenic X:10423007-10423007 X:10454967-10454967
10 MID1 NM_033290.4(MID1): c.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 X:10417535-10417535 X:10449495-10449495
11 MID1 NM_033290.4(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 X:10535245-10535245 X:10567205-10567205
12 MID1 MID1, EX1 DUP duplication Pathogenic
13 MID1 NM_033290.4(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 X:10450649-10450649 X:10482609-10482609
14 MID1 NM_033290.4(MID1): c.1544_1545AG[1] (p.Thr518_Pro519insTer) short repeat Pathogenic X:10423018-10423019 X:10454978-10454979
15 MID1 NM_033290.4(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 X:10491176-10491176 X:10523136-10523136
16 MID1 NM_033290.4(MID1): c.1798dup (p.His600fs) duplication Pathogenic rs398123342 X:10417614-10417614 X:10449574-10449574
17 MID1 NM_033290.4(MID1): c.1917del (p.Thr640fs) deletion Pathogenic X:10417495-10417495 X:10449455-10449455
18 MID1 NM_033290.4(MID1): c.922del (p.Arg308fs) deletion Likely pathogenic rs1555894390 X:10450611-10450611 X:10482571-10482571
19 MID1 NM_033290.4(MID1): c.1454del (p.Pro485fs) deletion Likely pathogenic rs1556003200 X:10423111-10423111 X:10455071-10455071
20 MID1 NM_033290.4(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic rs1556001856 X:10417531-10417531 X:10449491-10449491
21 MID1 NM_033290.4(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic rs1556001968 X:10417687-10417687 X:10449647-10449647
22 MID1 NM_033290.4(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1556004400 X:10427772-10427772 X:10459732-10459732
23 MID1 NM_033290.4(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 X:10417412-10417412 X:10449372-10449372
24 MID1 NM_033290.4(MID1): c.757-5831A> G single nucleotide variant Uncertain significance rs1555896387 X:10469562-10469562 X:10501522-10501522

UniProtKB/Swiss-Prot genetic disease variations for Opitz Gbbb Syndrome, Type I:

74
# Symbol AA change Variation ID SNP ID
1 MID1 p.Cys266Arg VAR_013758
2 MID1 p.Ile536Thr VAR_013761
3 MID1 p.Leu626Pro VAR_013762 rs28934611
4 MID1 p.Leu295Pro VAR_025495 rs104894866

Copy number variations for Opitz Gbbb Syndrome, Type I from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257116 X 1 24900000 Copy number MID1 Opitz syndrome
2 257119 X 1 24900000 Copy number Mid1 Opitz syndrome

Expression for Opitz Gbbb Syndrome, Type I

Search GEO for disease gene expression data for Opitz Gbbb Syndrome, Type I.

Pathways for Opitz Gbbb Syndrome, Type I

GO Terms for Opitz Gbbb Syndrome, Type I

Sources for Opitz Gbbb Syndrome, Type I

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