SOPH
MCID: SHR058
MIFTS: 35

Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (SOPH)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

MalaCards integrated aliases for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

Name: Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 57 73 5 71
Soph Syndrome 57 19 58 73
Soph 57 73
Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 19
Stature, Short, Optic Nerve Atrophy, and Pelger-Huet Anomaly 38
Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome 58

Characteristics:


Inheritance:

Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly: Autosomal recessive 57
Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome: Autosomal recessive 58

Prevelance:

Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Orphanet: 58 A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.

MalaCards based summary: Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly, also known as soph syndrome, is related to achromatopsia and 3-methylglutaconic aciduria, type iii, and has symptoms including tenting - skin and exophthalmos, bilateral. An important gene associated with Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly is NBAS (NBAS Subunit Of NRZ Tethering Complex). Affiliated tissues include neutrophil, eye and bone, and related phenotypes are delayed skeletal maturation and hypertelorism

GARD: 19 Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see 169400), and normal intelligence.

OMIM®: 57 Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see 169400), and normal intelligence. (614800) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision.

Related Diseases for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Diseases related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 10.5
2 3-methylglutaconic aciduria, type iii 10.3
3 pelger-huet anomaly 10.2
4 liver disease 10.1
5 acute liver failure 10.1
6 optic nerve disease 10.1
7 cutis laxa 10.1
8 neuroblastoma 10.1
9 strabismus 9.9
10 agammaglobulinemia, x-linked 9.9
11 cutis laxa, autosomal recessive, type iib 9.9
12 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
13 myopia 9.9
14 agammaglobulinemia 9.9
15 hypoglycemia 9.9
16 growth hormone deficiency 9.9

Graphical network of the top 20 diseases related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:



Diseases related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Symptoms & Phenotypes for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Human phenotypes related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 30 Occasional (7.5%) HP:0002750
2 hypertelorism 30 Occasional (7.5%) HP:0000316
3 strabismus 30 Occasional (7.5%) HP:0000486
4 myopia 30 Occasional (7.5%) HP:0000545
5 single transverse palmar crease 30 Occasional (7.5%) HP:0000954
6 hypermetropia 30 Occasional (7.5%) HP:0000540
7 syndactyly 30 Occasional (7.5%) HP:0001159
8 short neck 30 HP:0000470
9 thick eyebrow 30 HP:0000574
10 optic atrophy 30 HP:0000648
11 short stature 30 HP:0004322
12 brachycephaly 30 HP:0000248
13 postnatal growth retardation 30 HP:0008897
14 epicanthus 30 HP:0000286
15 brachydactyly 30 HP:0001156
16 sandal gap 30 HP:0001852
17 facial asymmetry 30 HP:0000324
18 long face 30 HP:0000276
19 long philtrum 30 HP:0000343
20 fine hair 30 HP:0002213
21 proptosis 30 HP:0000520
22 reduced visual acuity 30 HP:0007663
23 micromelia 30 HP:0002983
24 thin vermilion border 30 HP:0000233
25 cutis laxa 30 HP:0000973
26 prominent glabella 30 HP:0002057
27 narrow forehead 30 HP:0000341
28 nonprogressive visual loss 30 HP:0200068
29 hypotonia 30 HP:0001252
30 achromatopsia 30 HP:0011516

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Neck:
short neck

Head And Neck Head:
brachycephaly

Head And Neck Eyes:
epicanthus
exophthalmos, bilateral
thick eyebrows
myopia (in some patients)
hypertelorism (in some patients)
more
Skeletal Feet:
brachydactyly
sandal gap
wide feet
hypermobility of small joints
high arch
more
Skin Nails Hair Hair:
fine hair

Head And Neck Mouth:
thin lips

Growth Height:
postnatal growth failure

Skeletal:
delayed bone age (in some patients)

Neurologic Central Nervous System:
normal intellectual function

Hematology:
hypolobulation of granulocyte nuclei (pelger-huet anomaly)

Muscle Soft Tissue:
muscular hypotonia

Skeletal Skull:
brachycephaly
hypoplasia of frontal tubers
hypoplasia of parietal tubers

Skeletal Hands:
brachydactyly
hypermobility of small joints
syndactyly (rare)
simian crease (in some patients)

Head And Neck Face:
facial asymmetry
long face
long philtrum
prominent glabella
narrow forehead
more
Skeletal Limbs:
micromelia

Skin Nails Hair Skin:
loose skin
decreased turgor of skin

Head And Neck Nose:
straight nose

Genitourinary Internal Genitalia Female:
uterine hypoplasia (in some patients)

Voice:
high voice with harsh timber

Clinical features from OMIM®:

614800 (Updated 24-Oct-2022)

UMLS symptoms related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:


tenting - skin; exophthalmos, bilateral

Drugs & Therapeutics for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Search Clinical Trials, NIH Clinical Center for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Genetic Tests for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Anatomical Context for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Organs/tissues related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

MalaCards : Neutrophil, Eye, Bone, Liver, Skin, B Cells, Retina

Publications for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Articles related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

(show all 43)
# Title Authors PMID Year
1
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. 62 57 5
20577004 2010
2
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. 62 5
31761904 2020
3
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. 62 5
27789416 2017
4
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. 62 5
26541327 2016
5
Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature. 5
33042920 2020
6
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations. 5
30825388 2019
7
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 5
26073778 2015
8
[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]. 57
15612572 2004
9
[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)]. 57
14964842 2003
10
Salary Differences Between Schools of Medicine and Schools of Public Health for Nonclinical PhD Faculty: A Case Study of One Large Multicampus University System. 62
33346581 2022
11
Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. 62
28115293 2021
12
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. 62
33707149 2021
13
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients. 62
32812336 2020
14
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation. 62
32805445 2020
15
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. 62
32297715 2020
16
Oculofacial alterations in NBAS-SOPH like mutations: Case report. 62
30845840 2020
17
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. 62
31015584 2019
18
[A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage]. 62
31216810 2019
19
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 62
30622725 2019
20
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. 62
30592236 2018
21
Effect of sweeteners on anthocyanin stability and colour properties of sour cherry and strawberry nectars during storage. 62
30228434 2018
22
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. 62
28425089 2017
23
A simple and sensitive UHPLC-Q-TOF-MS/MS method for sophoricoside metabolism study in vitro and in vivo. 62
28750233 2017
24
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. 62
28031453 2017
25
[Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic]. 62
29369590 2016
26
Colour stabilities of sour cherry juice concentrates enhanced with gallic acid and various plant extracts during storage. 62
26616935 2016
27
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 62
26286438 2015
28
Roles of tryptophan residue and disulfide bond in the variable lid region of oxidized polyvinyl alcohol hydrolase. 62
25173935 2014
29
Sophoricoside fails the embryo implantation by compromising the uterine endometrial receptivity at implantation "window" of pregnant mice. 62
24877640 2014
30
Sophoricoside isolated from Sophora japonica ameliorates contact dermatitis by inhibiting NF-κB signaling in B cells. 62
23415872 2013
31
Development and validation of the 48-item Symptom Questionnaire (SQ-48) in patients with depressive, anxiety and somatoform disorders. 62
22884307 2012
32
The developmental course of anxiety symptoms during adolescence: the TRAILS study. 62
19490305 2009
33
Homotypic versus heterotypic continuity of anxiety symptoms in young adolescents: evidence for distinctions between DSM-IV subtypes. 62
17226094 2007
34
Simultaneous determination of monomethylmercury, monobutyltin, dibutyltin and tributyltin in environmental samples by multi-elemental-species-specific isotope dilution analysis using electron ionisation GC-MS. 62
17103388 2006
35
Base-catalyzed endo-mode cyclization of allenes: easy preparation of five- to nine-membered oxacycles. 62
15387613 2004
36
Effects of gamma-sterilization on butyltin homogeneity and content in sediments: a GC-ICP-MS study. 62
12734621 2003
37
Catalytic effect of sulfoxides on the fluxional motion of 2,9-dimethyl-1,10-phenanthroline in a platinum(II) complex: evaluation of steric and electronic contributions. 62
12033890 2002
38
Characteristics of parent- and child-reported anxiety in psychostimulant medication naïve, clinically referred children with attention deficit hyperactivity disorder, combined type (ADHD-CT). 62
11982546 2002
39
pTNM and residual tumor classifications: problems of assessment and prognostic significance. 62
7754621 1995
40
Determination of the antitumor agent SOAz (1,3,3,5,5 pentakis(aziridino)-1 lambda 6,2,4,6,3 lambda 5, 5 lambda 5 thia-triazadiphosphorine-1-oxide) by a gas chromatographic assay suitable for pharmacokinetic studies in man. 62
6861261 1983
41
Morphological characteristics of the infection of animals with tick-borne encephalitis virus persisting for a long time in cell cultures. 62
27969 1978
42
[Biological properties of tick-borne encephalitis virus variants isolated by transfection]. 62
1240697 1975
43
[Clone cells obtained from continuous cultures and differing in their sensitivity to tick-borne encephalitis viruses]. 62
1121856 1975

Variations for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

ClinVar genetic disease variations for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

5 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NBAS NM_015909.4(NBAS):c.5741G>A (p.Arg1914His) SNV Pathogenic
37042 rs369698072 GRCh37: 2:15378794-15378794
GRCh38: 2:15238670-15238670
2 NBAS NM_015909.4(NBAS):c.586C>T (p.Gln196Ter) SNV Pathogenic
430659 rs1131692171 GRCh37: 2:15676603-15676603
GRCh38: 2:15536479-15536479
3 NBAS NM_015909.4(NBAS):c.6433-2A>G SNV Pathogenic
975151 rs200365734 GRCh37: 2:15330529-15330529
GRCh38: 2:15190405-15190405
4 NBAS NM_015909.4(NBAS):c.3010C>T (p.Arg1004Ter) SNV Pathogenic
1693290 GRCh37: 2:15542353-15542353
GRCh38: 2:15402229-15402229
5 NBAS NM_015909.4(NBAS):c.5104del (p.Phe1701_Met1702insTer) DEL Pathogenic
1699908 GRCh37: 2:15427231-15427231
GRCh38: 2:15287107-15287107
6 NBAS NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) SNV Pathogenic/Likely Pathogenic
617879 rs776597537 GRCh37: 2:15319112-15319112
GRCh38: 2:15178988-15178988
7 NBAS NM_015909.4(NBAS):c.513+2T>C SNV Likely Pathogenic
1333991 GRCh37: 2:15679345-15679345
GRCh38: 2:15539221-15539221
8 NBAS NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter) SNV Likely Pathogenic
976858 rs767280377 GRCh37: 2:15608642-15608642
GRCh38: 2:15468518-15468518
9 NBAS NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) SNV Likely Pathogenic
204584 rs796052121 GRCh37: 2:15534444-15534444
GRCh38: 2:15394320-15394320
10 NBAS NM_015909.3:c.(?_5028)_(5724_?)del DEL Likely Pathogenic
624565 GRCh37:
GRCh38:
11 NBAS NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly) SNV Likely Pathogenic
873540 rs1677547983 GRCh37: 2:15567847-15567847
GRCh38: 2:15427723-15427723
12 NBAS NM_015909.4(NBAS):c.886-5T>A SNV Likely Pathogenic
1699907 GRCh37: 2:15644342-15644342
GRCh38: 2:15504218-15504218
13 NBAS NM_015909.4(NBAS):c.3932-9A>G SNV Uncertain Significance
1333990 GRCh37: 2:15493843-15493843
GRCh38: 2:15353719-15353719
14 NBAS NM_015909.4(NBAS):c.3361-19A>G SNV Uncertain Significance
1319746 GRCh37: 2:15519974-15519974
GRCh38: 2:15379850-15379850
15 NBAS NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) SNV Uncertain Significance
523072 rs143212851 GRCh37: 2:15607794-15607794
GRCh38: 2:15467670-15467670
16 NBAS NM_015909.4(NBAS):c.886-3C>G SNV Uncertain Significance
1687106 GRCh37: 2:15644340-15644340
GRCh38: 2:15504216-15504216
17 NBAS NM_015909.4(NBAS):c.5297T>C (p.Leu1766Pro) SNV Uncertain Significance
1524396 GRCh37: 2:15417067-15417067
GRCh38: 2:15276943-15276943
18 NBAS NM_015909.4(NBAS):c.2893G>A (p.Asp965Asn) SNV Uncertain Significance
1032706 rs201635424 GRCh37: 2:15555714-15555714
GRCh38: 2:15415590-15415590
19 NBAS NM_015909.4(NBAS):c.3360+17A>G SNV Uncertain Significance
1032707 rs201033267 GRCh37: 2:15523322-15523322
GRCh38: 2:15383198-15383198
20 NBAS NM_015909.4(NBAS):c.2065T>C (p.Leu689=) SNV Uncertain Significance
430660 rs1131692172 GRCh37: 2:15607485-15607485
GRCh38: 2:15467361-15467361
21 NBAS NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val) SNV Uncertain Significance
264645 rs1553367826 GRCh37: 2:15448416-15448416
GRCh38: 2:15308292-15308292
22 NBAS NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser) SNV Uncertain Significance
431715 rs141793158 GRCh37: 2:15378671-15378671
GRCh38: 2:15238547-15238547
23 NBAS NM_015909.4(NBAS):c.5129C>T (p.Thr1710Met) SNV Uncertain Significance
431716 rs369271997 GRCh37: 2:15427206-15427206
GRCh38: 2:15287082-15287082
24 NBAS NM_015909.4(NBAS):c.287+20_287+21insT INSERT Benign
1174687 GRCh37: 2:15694164-15694165
GRCh38: 2:15554040-15554041
25 NBAS NM_015909.4(NBAS):c.1148-26G>A SNV Benign
1227666 GRCh37: 2:15616030-15616030
GRCh38: 2:15475906-15475906
26 NBAS NM_015909.4(NBAS):c.5138+24G>A SNV Benign
1253708 GRCh37: 2:15427173-15427173
GRCh38: 2:15287049-15287049
27 NBAS NM_015909.4(NBAS):c.4797+29T>A SNV Benign
1279028 GRCh37: 2:15448311-15448311
GRCh38: 2:15308187-15308187
28 NBAS NM_015909.4(NBAS):c.4462-31A>G SNV Benign
1282242 GRCh37: 2:15468025-15468025
GRCh38: 2:15327901-15327901
29 NBAS NM_015909.4(NBAS):c.1147+11C>T SNV Benign
1166930 GRCh37: 2:15618339-15618339
GRCh38: 2:15478215-15478215
30 NBAS NM_015909.4:c.5725-13_5725-12insATTA INSERT Benign
1321842 GRCh37: 2:15378822-15378823
GRCh38: 2:15238698-15238699
31 NBAS NM_015909.4(NBAS):c.727A>G (p.Ile243Val) SNV Benign
1169874 GRCh37: 2:15674686-15674686
GRCh38: 2:15534562-15534562
32 NBAS NM_015909.4(NBAS):c.1148-9G>C SNV Benign
1169873 GRCh37: 2:15616013-15616013
GRCh38: 2:15475889-15475889
33 NBAS NM_015909.4(NBAS):c.1242T>C (p.Ser414=) SNV Benign
1169872 GRCh37: 2:15615910-15615910
GRCh38: 2:15475786-15475786
34 NBAS NM_015909.4(NBAS):c.1386A>G (p.Arg462=) SNV Benign
1169871 GRCh37: 2:15614404-15614404
GRCh38: 2:15474280-15474280
35 NBAS NM_015909.4(NBAS):c.2223G>A (p.Leu741=) SNV Benign
1169870 GRCh37: 2:15601441-15601441
GRCh38: 2:15461317-15461317
36 NBAS NM_015909.4(NBAS):c.1964A>G (p.Lys655Arg) SNV Benign
1168945 GRCh37: 2:15607842-15607842
GRCh38: 2:15467718-15467718
37 NBAS NM_015909.4(NBAS):c.514-11C>T SNV Benign
1168265 GRCh37: 2:15676686-15676686
GRCh38: 2:15536562-15536562
38 NBAS NM_015909.4(NBAS):c.4031A>T (p.His1344Leu) SNV Not Provided
1039319 rs201325677 GRCh37: 2:15493735-15493735
GRCh38: 2:15353611-15353611

Expression for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Search GEO for disease gene expression data for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly.

Pathways for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

GO Terms for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Sources for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

2 CDC
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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44 MESH via Orphanet
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48 NCI
49 NCIt
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56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
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64 QIAGEN
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70 Tocris
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72 UMLS via Orphanet
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