LATHOS
MCID: LTH002
MIFTS: 40

Lathosterolosis (LATHOS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lathosterolosis

MalaCards integrated aliases for Lathosterolosis:

Name: Lathosterolosis 57 19 58 73 28 12 53 5 38 71 75
Sterol C5-Desaturase Deficiency 57 19 58
Sc5d Deficiency 57 19
Lathos 57 73

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Lathosterolosis

OMIM®: 57 Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007). (607330) (Updated 08-Dec-2022)

MalaCards based summary: Lathosterolosis, also known as sterol c5-desaturase deficiency, is related to smith-lemli-opitz syndrome and greenberg dysplasia. An important gene associated with Lathosterolosis is SC5D (Sterol-C5-Desaturase). The drugs 7-dehydrocholesterol and Dehydrocholesterols have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and eye, and related phenotypes are cataract and global developmental delay

GARD: 19 Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

Orphanet: 58 Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage.

Wikipedia: 75 Lathosterolosis is a defect in cholesterol... more...

Related Diseases for Lathosterolosis

Diseases related to Lathosterolosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 smith-lemli-opitz syndrome 11.0
2 greenberg dysplasia 11.0
3 cataract 10.2
4 opitz gbbb syndrome 10.0
5 mucolipidosis 10.0
6 cleft palate, isolated 9.9
7 neural tube defects 9.9
8 autism 9.9
9 chondrodysplasia punctata 2, x-linked dominant 9.9
10 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
11 desmosterolosis 9.9
12 autism spectrum disorder 9.9
13 x-linked chondrodysplasia punctata 2 9.9
14 microcephaly 9.9
15 cholestasis 9.9
16 liver disease 9.9
17 hypotonia 9.9

Graphical network of the top 20 diseases related to Lathosterolosis:



Diseases related to Lathosterolosis

Symptoms & Phenotypes for Lathosterolosis

Human phenotypes related to Lathosterolosis:

58 30 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000518
2 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
3 microcephaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000252
4 specific learning disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001328
5 hypoplasia of penis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008736
6 postaxial foot polydactyly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001830
7 seizure 58 30 Very rare (1%) Frequent (79-30%)
HP:0001250
8 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
9 ptosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0000508
10 cerebral calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0002514
11 high palate 58 30 Very rare (1%) Frequent (79-30%)
HP:0000218
12 hypotonia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001252
13 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
14 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
15 gingival overgrowth 58 30 Very rare (1%) Frequent (79-30%)
HP:0000212
16 short nose 58 30 Very rare (1%) Frequent (79-30%)
HP:0003196
17 anteverted nares 58 30 Very rare (1%) Frequent (79-30%)
HP:0000463
18 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
HP:0000293
19 opacification of the corneal stroma 58 30 Very rare (1%) Frequent (79-30%)
HP:0007759
20 myoclonus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001336
21 biparietal narrowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0004422
22 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
23 micrognathia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000347
24 horseshoe kidney 58 30 Very rare (1%) Frequent (79-30%)
HP:0000085
25 epicanthus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000286
26 thrombocytopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001873
27 downslanted palpebral fissures 58 30 Very rare (1%) Frequent (79-30%)
HP:0000494
28 meningocele 58 30 Frequent (33%) Frequent (79-30%)
HP:0002435
29 downturned corners of mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0002714
30 talipes 58 30 Frequent (33%) Frequent (79-30%)
HP:0001883
31 long philtrum 58 30 Very rare (1%) Frequent (79-30%)
HP:0000343
32 bulbous nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000414
33 hepatic failure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001399
34 microcornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000482
35 toe syndactyly 58 30 Very rare (1%) Frequent (79-30%)
HP:0001770
36 prominent metopic ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005487
37 postaxial hand polydactyly 58 30 Very rare (1%) Frequent (79-30%)
HP:0001162
38 sloping forehead 58 30 Very rare (1%) Frequent (79-30%)
HP:0000340
39 cerebellar cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008278
40 narrow forehead 58 30 Very rare (1%) Frequent (79-30%)
HP:0000341
41 intrahepatic cholestasis 58 30 Very rare (1%) Frequent (79-30%)
HP:0001406
42 anisopoikilocytosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0004823
43 chiari malformation 30 Very rare (1%) HP:0002308
44 abnormal thoracic spine morphology 30 Frequent (33%) HP:0100711
45 intellectual disability 30 Very rare (1%) HP:0001249
46 wide nasal bridge 30 Very rare (1%) HP:0000431
47 osteoporosis 30 Very rare (1%) HP:0000939
48 growth delay 30 Very rare (1%) HP:0001510
49 elevated hepatic transaminase 30 Very rare (1%) HP:0002910
50 talipes equinovarus 30 Very rare (1%) HP:0001762

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
ptosis
cataract
epicanthal folds

Head And Neck Head:
microcephaly

Skeletal:
osteoporosis
pathologic fracture

Genitourinary External Genitalia Male:
hypospadias

Abdomen Liver:
intrahepatic cholestasis

Skeletal Feet:
syndactyly
clubfeet
postaxial hexadactyly

Head And Neck Ears:
conductive hearing loss

Skeletal Hands:
postaxial hexadactyly

Skeletal Spine:
sagittal vertebral cleft

Neurologic Central Nervous System:
hypotonia
lumbosacral meningocele
mental retardation
type ii arnold chiari malformation

Head And Neck Nose:
anteverted nares
broad nasal bridge

Head And Neck Face:
micrognathia
long philtrum
sloping forehead
bitemporal narrowing

Laboratory Abnormalities:
hyperbilirubinemia
elevated alkaline phosphatase
elevated transaminases
elevated lathosterol
absent 7-dehydrocholesterol
more
Hematology:
anisopoikilocytosis
large platelets
acanthocytes
schistocytes
vacuolated monocytes

Abdomen Biliary Tract:
bilobate gallbladder

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

Genitourinary Kidneys:
pyelectasis

Clinical features from OMIM®:

607330 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lathosterolosis

Drugs for Lathosterolosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
7-dehydrocholesterol 434-16-2 439423
2 Dehydrocholesterols

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Investigation Into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism Recruiting NCT05047354

Search NIH Clinical Center for Lathosterolosis

Genetic Tests for Lathosterolosis

Genetic tests related to Lathosterolosis:

# Genetic test Affiliating Genes
1 Lathosterolosis 28 SC5D

Anatomical Context for Lathosterolosis

Organs/tissues related to Lathosterolosis:

MalaCards : Liver, Kidney, Eye, Monocytes, Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

Publications for Lathosterolosis

Articles related to Lathosterolosis:

(show all 23)
# Title Authors PMID Year
1
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. 53 62 57 5
12812989 2003
2
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties. 62 57 5
30097991 2019
3
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. 62 57 5
24142275 2014
4
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. 62 57 5
12189593 2002
5
Clinical phenotype of lathosterolosis. 62 57
17853487 2007
6
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. 62 57
12668600 2003
7
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. 57
2309789 1990
8
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature. 62
33204591 2020
9
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study. 62
31888647 2019
10
Lathosterolosis: An Extremely Rare Inherited Condition Associated With Progressive Liver Disease. 62
31259789 2019
11
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. 62
25646736 2015
12
Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis. 62
24621408 2014
13
Sterol metabolism disorders and neurodevelopment-an update. 62
23798009 2013
14
Cholesterol metabolism deficiency. 62
23622407 2013
15
Malformation syndromes caused by disorders of cholesterol synthesis. 62
20929975 2011
16
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. 62
20305089 2010
17
Cataract development in a young patient with lathosterolosis: a clinicopathologic case report. 62
19123163 2009
18
Cholesterol precursors and facial clefting. 62
16955133 2006
19
Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. 62
16636072 2006
20
Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. 62
16231320 2005
21
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. 62
15580635 2005
22
Human malformation syndromes due to inborn errors of cholesterol synthesis. 62
14631207 2003
23
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. 62
12652302 2003

Variations for Lathosterolosis

ClinVar genetic disease variations for Lathosterolosis:

5 (show top 50) (show all 139)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SC5D NM_006918.5(SC5D):c.86G>A (p.Arg29Gln) SNV Pathogenic
7354 rs104894295 GRCh37: 11:121174170-121174170
GRCh38: 11:121303461-121303461
2 SC5D NM_006918.5(SC5D):c.632G>A (p.Gly211Asp) SNV Pathogenic
7355 rs104894296 GRCh37: 11:121177953-121177953
GRCh38: 11:121307244-121307244
3 SC5D NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser) SNV Pathogenic
7356 rs104894297 GRCh37: 11:121174221-121174221
GRCh38: 11:121303512-121303512
4 SC5D NM_006918.5(SC5D):c.630C>A (p.Asp210Glu) SNV Pathogenic
916041 rs760167278 GRCh37: 11:121177951-121177951
GRCh38: 11:121307242-121307242
5 SC5D NM_006918.5(SC5D):c.479C>G (p.Pro160Arg) SNV Pathogenic
916042 rs1947971579 GRCh37: 11:121177800-121177800
GRCh38: 11:121307091-121307091
6 SC5D NM_006918.5(SC5D):c.223C>T (p.Arg75Ter) SNV Pathogenic
638393 rs1313359281 GRCh37: 11:121175082-121175082
GRCh38: 11:121304373-121304373
7 SC5D NM_006918.5(SC5D):c.268_269del (p.Leu90fs) DEL Likely Pathogenic
1679342 GRCh37: 11:121175126-121175127
GRCh38: 11:121304417-121304418
8 SC5D NM_006918.5(SC5D):c.753C>T (p.Gly251=) SNV Uncertain Significance
303056 rs201959036 GRCh37: 11:121178074-121178074
GRCh38: 11:121307365-121307365
9 SC5D NM_006918.5(SC5D):c.608T>C (p.Ile203Thr) SNV Uncertain Significance
1722313 GRCh37: 11:121177929-121177929
GRCh38: 11:121307220-121307220
10 SC5D NM_006918.4(SC5D):c.-127T>G SNV Uncertain Significance
303048 rs886047847 GRCh37: 11:121163409-121163409
GRCh38: 11:121292700-121292700
11 SC5D NM_006918.4(SC5D):c.-94C>G SNV Uncertain Significance
303049 rs886047848 GRCh37: 11:121163442-121163442
GRCh38: 11:121292733-121292733
12 SC5D NM_006918.4(SC5D):c.-91C>G SNV Uncertain Significance
303050 rs886047849 GRCh37: 11:121163445-121163445
GRCh38: 11:121292736-121292736
13 SC5D NM_006918.5(SC5D):c.442A>G (p.Lys148Glu) SNV Uncertain Significance
811763 rs775350797 GRCh37: 11:121177193-121177193
GRCh38: 11:121306484-121306484
14 SC5D NM_006918.5(SC5D):c.344-15C>T SNV Uncertain Significance
877943 rs570720353 GRCh37: 11:121177080-121177080
GRCh38: 11:121306371-121306371
15 SC5D NM_006918.5(SC5D):c.656T>C (p.Leu219Ser) SNV Uncertain Significance
1333349 GRCh37: 11:121177977-121177977
GRCh38: 11:121307268-121307268
16 SC5D NM_006918.5(SC5D):c.535C>T (p.Pro179Ser) SNV Uncertain Significance
1679319 GRCh37: 11:121177856-121177856
GRCh38: 11:121307147-121307147
17 SC5D NM_006918.5(SC5D):c.*3346G>A SNV Uncertain Significance
303096 rs745556623 GRCh37: 11:121181567-121181567
GRCh38: 11:121310858-121310858
18 SC5D NM_006918.5(SC5D):c.*4576T>A SNV Uncertain Significance
880035 rs183742147 GRCh37: 11:121182797-121182797
GRCh38: 11:121312088-121312088
19 SC5D NM_006918.5(SC5D):c.*4756A>G SNV Uncertain Significance
880036 rs566838476 GRCh37: 11:121182977-121182977
GRCh38: 11:121312268-121312268
20 SC5D NM_006918.5(SC5D):c.*4454G>A SNV Uncertain Significance
879669 rs1026656844 GRCh37: 11:121182675-121182675
GRCh38: 11:121311966-121311966
21 SC5D NM_006918.5(SC5D):c.*4469G>A SNV Uncertain Significance
879670 rs73017147 GRCh37: 11:121182690-121182690
GRCh38: 11:121311981-121311981
22 SC5D NM_006918.5(SC5D):c.151A>G (p.Thr51Ala) SNV Uncertain Significance
879882 rs1565568966 GRCh37: 11:121174235-121174235
GRCh38: 11:121303526-121303526
23 SC5D NM_006918.5(SC5D):c.181G>A (p.Ala61Thr) SNV Uncertain Significance
879883 rs1947941103 GRCh37: 11:121174265-121174265
GRCh38: 11:121303556-121303556
24 SC5D NM_006918.5(SC5D):c.*1305A>C SNV Uncertain Significance
879925 rs750271628 GRCh37: 11:121179526-121179526
GRCh38: 11:121308817-121308817
25 SC5D NM_006918.5(SC5D):c.*2879G>T SNV Uncertain Significance
879972 rs1948000294 GRCh37: 11:121181100-121181100
GRCh38: 11:121310391-121310391
26 SC5D NM_006918.5(SC5D):c.*3003T>A SNV Uncertain Significance
879973 rs915768614 GRCh37: 11:121181224-121181224
GRCh38: 11:121310515-121310515
27 SC5D NM_006918.5(SC5D):c.*3006C>T SNV Uncertain Significance
879974 rs890214835 GRCh37: 11:121181227-121181227
GRCh38: 11:121310518-121310518
28 SC5D NM_006918.5(SC5D):c.*3065C>T SNV Uncertain Significance
879975 rs756525915 GRCh37: 11:121181286-121181286
GRCh38: 11:121310577-121310577
29 SC5D NM_006918.5(SC5D):c.*3246C>T SNV Uncertain Significance
877183 rs1274821065 GRCh37: 11:121181467-121181467
GRCh38: 11:121310758-121310758
30 SC5D NM_006918.5(SC5D):c.*5200C>T SNV Uncertain Significance
877241 rs183946033 GRCh37: 11:121183421-121183421
GRCh38: 11:121312712-121312712
31 SC5D NM_006918.5(SC5D):c.*5210C>T SNV Uncertain Significance
877242 rs1948020352 GRCh37: 11:121183431-121183431
GRCh38: 11:121312722-121312722
32 SC5D NM_006918.5(SC5D):c.*5255A>T SNV Uncertain Significance
877243 rs557724633 GRCh37: 11:121183476-121183476
GRCh38: 11:121312767-121312767
33 SC5D NM_006918.5(SC5D):c.*5260A>G SNV Uncertain Significance
877244 rs565484939 GRCh37: 11:121183481-121183481
GRCh38: 11:121312772-121312772
34 SC5D NM_006918.5(SC5D):c.624T>G (p.Ile208Met) SNV Uncertain Significance
877944 rs1947973083 GRCh37: 11:121177945-121177945
GRCh38: 11:121307236-121307236
35 SC5D NM_006918.5(SC5D):c.662C>T (p.Pro221Leu) SNV Uncertain Significance
877945 rs1947973564 GRCh37: 11:121177983-121177983
GRCh38: 11:121307274-121307274
36 SC5D NM_006918.5(SC5D):c.843A>G (p.Ser281=) SNV Uncertain Significance
878105 rs778899115 GRCh37: 11:121178164-121178164
GRCh38: 11:121307455-121307455
37 SC5D NM_006918.5(SC5D):c.*99C>T SNV Uncertain Significance
878106 rs1947977662 GRCh37: 11:121178320-121178320
GRCh38: 11:121307611-121307611
38 SC5D NM_006918.5(SC5D):c.*160G>A SNV Uncertain Significance
878107 rs568068471 GRCh37: 11:121178381-121178381
GRCh38: 11:121307672-121307672
39 SC5D NM_006918.5(SC5D):c.*229G>A SNV Uncertain Significance
878108 rs928598332 GRCh37: 11:121178450-121178450
GRCh38: 11:121307741-121307741
40 SC5D NM_006918.5(SC5D):c.*2212C>A SNV Uncertain Significance
878152 rs930790807 GRCh37: 11:121180433-121180433
GRCh38: 11:121309724-121309724
41 SC5D NM_006918.5(SC5D):c.*2363G>A SNV Uncertain Significance
878153 rs1947996125 GRCh37: 11:121180584-121180584
GRCh38: 11:121309875-121309875
42 SC5D NM_006918.5(SC5D):c.*2430C>T SNV Uncertain Significance
878154 rs529785402 GRCh37: 11:121180651-121180651
GRCh38: 11:121309942-121309942
43 SC5D NM_006918.5(SC5D):c.*5440A>G SNV Uncertain Significance
878285 rs1948022595 GRCh37: 11:121183661-121183661
GRCh38: 11:121312952-121312952
44 SC5D NM_006918.5(SC5D):c.*5717C>G SNV Uncertain Significance
878286 rs912515665 GRCh37: 11:121183938-121183938
GRCh38: 11:121313229-121313229
45 SC5D NM_006918.5(SC5D):c.*5855G>A SNV Uncertain Significance
878882 rs762824572 GRCh37: 11:121184076-121184076
GRCh38: 11:121313367-121313367
46 SC5D NM_006918.5(SC5D):c.*582A>G SNV Uncertain Significance
879562 rs11551924 GRCh37: 11:121178803-121178803
GRCh38: 11:121308094-121308094
47 SC5D NM_006918.5(SC5D):c.*584C>T SNV Uncertain Significance
879563 rs1035758340 GRCh37: 11:121178805-121178805
GRCh38: 11:121308096-121308096
48 SC5D NM_006918.5(SC5D):c.*622C>T SNV Uncertain Significance
879564 rs184338020 GRCh37: 11:121178843-121178843
GRCh38: 11:121308134-121308134
49 SC5D NM_006918.5(SC5D):c.*628C>T SNV Uncertain Significance
879565 rs973950376 GRCh37: 11:121178849-121178849
GRCh38: 11:121308140-121308140
50 SC5D NM_006918.5(SC5D):c.*2802A>T SNV Uncertain Significance
879614 rs1947999658 GRCh37: 11:121181023-121181023
GRCh38: 11:121310314-121310314

UniProtKB/Swiss-Prot genetic disease variations for Lathosterolosis:

73
# Symbol AA change Variation ID SNP ID
1 SC5D p.Arg29Gln VAR_014423 rs104894295
2 SC5D p.Gly211Asp VAR_014424 rs104894296
3 SC5D p.Tyr46Ser VAR_020829 rs104894297

Expression for Lathosterolosis

Search GEO for disease gene expression data for Lathosterolosis.

Pathways for Lathosterolosis

GO Terms for Lathosterolosis

Sources for Lathosterolosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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