LMHD
MCID: LNZ003
MIFTS: 47

Lenz-Majewski Hyperostotic Dwarfism (LMHD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lenz-Majewski Hyperostotic Dwarfism

MalaCards integrated aliases for Lenz-Majewski Hyperostotic Dwarfism:

Name: Lenz-Majewski Hyperostotic Dwarfism 57 11 58 75 73 14 38
Lenz-Majewski Syndrome 57 11 19 73 5 75
Lenz Majewski Hyperostotic Dwarfism 19 43 71
Lmhd 57 73
Multiple Congenital Anomalies, Intellectual Disability and Progressive Skeletal Sclerosis 19
Hyperostotic Dwarfism Lenz-Majewski Type 19
Lenz-Majewski Hyperostotic Dysplasia 19
Lms 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
all cases due to de novo mutation (last curated february 2014)


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Lenz-Majewski Hyperostotic Dwarfism

OMIM®: 57 Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014). (151050) (Updated 08-Dec-2022)

MalaCards based summary: Lenz-Majewski Hyperostotic Dwarfism, also known as lenz-majewski syndrome, is related to scarf syndrome and limb-mammary syndrome. An important gene associated with Lenz-Majewski Hyperostotic Dwarfism is PTDSS1 (Phosphatidylserine Synthase 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include bone, skin and tongue, and related phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot: 73 A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction.

Disease Ontology: 11 A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has material basis in heterozygous mutation in PTDSS1 on chromosome 8q22.1.

GARD: 19 An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

Orphanet: 58 An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

Wikipedia: 75 Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism (LMHD), is a skin... more...

Related Diseases for Lenz-Majewski Hyperostotic Dwarfism

Diseases related to Lenz-Majewski Hyperostotic Dwarfism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 scarf syndrome 11.5
2 limb-mammary syndrome 11.5
3 lateral meningocele syndrome 11.3
4 laurence-moon syndrome 11.0
5 short-rib thoracic dysplasia 6 with or without polydactyly 10.6
6 short-rib thoracic dysplasia 3 with or without polydactyly 10.6
7 bone disease 10.5
8 dysostosis 10.5
9 leiomyosarcoma 10.4
10 endosteal hyperostosis, autosomal dominant 10.4
11 hypertelorism 10.4
12 chromosome 2q35 duplication syndrome 10.4
13 peeling skin syndrome 1 10.4
14 brachydactyly 10.4
15 proximal symphalangism 10.4
16 hyperostosis 10.4
17 osteochondrodysplasia 10.4
18 cutis laxa 10.4
19 hydrocephalus 10.3
20 lacrimal duct defect 10.1
21 cryptorchidism, unilateral or bilateral 10.1
22 papillon-lefevre syndrome 10.1
23 calvarial hyperostosis 10.1
24 choanal atresia, posterior 10.1
25 scoliosis 10.1
26 inguinal hernia 10.1
27 bell's palsy 10.1
28 facial paralysis 10.1
29 communicating hydrocephalus 10.1
30 spinal cord disease 10.1
31 atp6v0a2-related cutis laxa 10.1
32 eln-related cutis laxa 10.1
33 ltbp4-related cutis laxa 10.1
34 primary bone dysplasia with increased bone density 10.1
35 body mass index quantitative trait locus 1 10.1
36 neuronopathy, distal hereditary motor, type viia 10.1 PTDSS2 PISD
37 uterus leiomyosarcoma 10.1
38 calvarial doughnut lesions with bone fragility 10.1 SGMS2 PTDSS1 PCYT1A
39 split-hand/foot malformation 1 10.0
40 deficiency anemia 10.0
41 split hand-foot malformation 10.0
42 sarcoma 10.0
43 neutropenia 10.0
44 leiomyoma 10.0
45 toxoplasmosis 10.0
46 isolated split hand-split foot malformation 10.0
47 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 PTDSS1 DDHD1
48 spastic paraplegia 28, autosomal recessive 9.9 DDHD2 DDHD1
49 spastic paraplegia 82, autosomal recessive 9.9 DDHD2 DDHD1
50 spastic paraplegia 77, autosomal recessive 9.8 DDHD2 DDHD1

Graphical network of the top 20 diseases related to Lenz-Majewski Hyperostotic Dwarfism:



Diseases related to Lenz-Majewski Hyperostotic Dwarfism

Symptoms & Phenotypes for Lenz-Majewski Hyperostotic Dwarfism

Human phenotypes related to Lenz-Majewski Hyperostotic Dwarfism:

58 30 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
5 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
6 macrotia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000400
7 mandibular prognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000303
8 thickened calvaria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002684
9 abnormal cortical bone morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003103
10 specific learning disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001328
11 prematurely aged appearance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007495
12 aplasia/hypoplasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008065
13 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
14 choanal atresia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000453
15 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005692
16 broad forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000337
17 redundant skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001582
18 large fontanelles 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000239
19 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
20 symphalangism affecting the phalanges of the hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009773
21 delayed cranial suture closure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000270
22 short palm 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004279
23 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
24 osteopetrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011002
25 facial hyperostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005465
26 aplastic clavicle 30 Hallmark (90%) HP:0006660
27 abnormal dental enamel morphology 30 Hallmark (90%) HP:0000682
28 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
29 facial palsy 58 30 Frequent (33%) Frequent (79-30%)
HP:0010628
30 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000023
31 thick vermilion border 58 30 Frequent (33%) Frequent (79-30%)
HP:0012471
32 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
33 hypospadias 58 30 Frequent (33%) Frequent (79-30%)
HP:0000047
34 wide mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000154
35 epispadias 58 30 Frequent (33%) Frequent (79-30%)
HP:0000039
36 elbow ankylosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003070
37 abnormal nasolacrimal system morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000614
38 femoral hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100541
39 abnormal metacarpal morphology 30 Frequent (33%) HP:0005916
40 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
41 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
42 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
43 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
44 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001252
45 high, narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002705
46 hyperconvex fingernails 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001812
47 absent septum pellucidum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001331
48 hypoplastic fingernail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001804
49 bifid uvula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000193
50 submucous cleft hard palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000176

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
chordee

Chest Ribs Sternum Clavicles And Scapulae:
broad ribs
broad clavicles

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
choanal atresia
choanal stenosis

Skin Nails Hair Skin:
cutis marmorata
prominent scalp veins
cutis laxa (infancy)
thin, hypotrophic skin

Skeletal Skull:
progressive sclerosis of skull base
shallow, distorted orbits
progressive sclerosis of facial bones

Head And Neck Head:
delayed closure of fontanel
disproportionately large head
large fontanels
microcephaly (in some patients)

Growth Height:
postnatal short stature

Head And Neck Mouth:
small tongue

Skin Nails Hair Hair:
sparse hair (infancy)

Neurologic Central Nervous System:
hypotonia
agenesis of the corpus callosum
mental retardation, moderate to severe

Head And Neck Eyes:
hypertelorism
nasolacrimal duct stenosis

Skeletal Limbs:
diaphyseal thickening
knee flexion contracture
elbow flexion contractures
metaphyseal hypostosis
long, flared metaphyses
more
Head And Neck Face:
micrognathia
broad, prominent forehead

Abdomen Gastrointestinal:
anteriorly placed anus

Skeletal Hands:
proximal symphalangism
syndactyly
dorsiflexion of fingers
short/absent middle phalanges
hyperextensible digits

Skeletal:
delayed bone age

Head And Neck Ears:
hearing loss, sensorineural
large, floppy ears

Growth Weight:
severe emaciation

Head And Neck Teeth:
dysplastic enamel

Clinical features from OMIM®:

151050 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lenz-Majewski Hyperostotic Dwarfism

Search Clinical Trials, NIH Clinical Center for Lenz-Majewski Hyperostotic Dwarfism

Cochrane evidence based reviews: lenz majewski hyperostotic dwarfism

Genetic Tests for Lenz-Majewski Hyperostotic Dwarfism

Anatomical Context for Lenz-Majewski Hyperostotic Dwarfism

Organs/tissues related to Lenz-Majewski Hyperostotic Dwarfism:

MalaCards : Bone, Skin, Tongue

Publications for Lenz-Majewski Hyperostotic Dwarfism

Articles related to Lenz-Majewski Hyperostotic Dwarfism:

(show all 27)
# Title Authors PMID Year
1
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 62 57 5
24241535 2014
2
Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus. 62 57 5
15194948 2004
3
Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism. 62 57 5
10756342 2000
4
Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome. 62 57 5
2773987 1989
5
A Japanese patient with a mild Lenz-Majewski syndrome. 62 57
17593321 2007
6
Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient. 62 57
10946362 2000
7
Lenz-Majewski syndrome. 62 57
6611917 1983
8
The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. 62 57
894410 1977
9
Craniodiaphyseal dysplasia, a disease or group of diseases? 57
4823202 1974
10
Cutis laxa, skeletal anomalies, and ambiguous genitalia. 57
4809786 1974
11
Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case. 57
5249155 1969
12
Selection of fertilization strategies for different sperm parameters in vitro fertilization. 62
36267712 2022
13
De novo loss-of-function variant in PTDSS1 is associated with developmental delay. 62
35224839 2022
14
Topology of phosphatidylserine synthase 1 in the endoplasmic reticulum membrane. 62
34516042 2021
15
Lenz-Majewski syndrome in a patient from Egypt. 62
31403251 2019
16
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. 62
31231513 2019
17
Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features. 62
29885186 2018
18
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. 62
29341480 2018
19
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. 62
27044099 2016
20
Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism. 62
30854527 2016
21
Craniovertebral junction stenosis in Lenz-Majewski syndrome. 62
25779830 2015
22
Lenz-Majewski syndrome: Report of a case with novel mutation inĀ PTDSS1 gene. 62
26117586 2015
23
Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1. 62
25363158 2015
24
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 62
25178427 2015
25
Duck hepatitis B virus DNA integration induced by oxidative radicals and its transmission from parent cells to offspring ones. 62
11058956 2000
26
Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. 62
9215775 1997
27
Surgical treatment of biliary ductal stricture complicating localized left hepatolithiasis. 62
27006579 1997

Variations for Lenz-Majewski Hyperostotic Dwarfism

ClinVar genetic disease variations for Lenz-Majewski Hyperostotic Dwarfism:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTDSS1 NM_014754.3(PTDSS1):c.794T>C (p.Leu265Pro) SNV Pathogenic
97036 rs587777090 GRCh37: 8:97316309-97316309
GRCh38: 8:96304081-96304081
2 PTDSS1 NM_014754.3(PTDSS1):c.805C>T (p.Pro269Ser) SNV Pathogenic
97035 rs587777089 GRCh37: 8:97316320-97316320
GRCh38: 8:96304092-96304092
3 PTDSS1 NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg) SNV Pathogenic
97034 rs587777088 GRCh37: 8:97321835-97321835
GRCh38: 8:96309607-96309607
4 PTDSS1 NM_014754.3(PTDSS1):c.848C>T (p.Ser283Phe) SNV Likely Pathogenic
1027889 rs1811091915 GRCh37: 8:97316363-97316363
GRCh38: 8:96304135-96304135
5 PTDSS1 NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu) SNV Uncertain Significance
802426 rs1586200389 GRCh37: 8:97318730-97318730
GRCh38: 8:96306502-96306502
6 PTDSS1 NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu) SNV Uncertain Significance
930583 rs1810593860 GRCh37: 8:97285594-97285594
GRCh38: 8:96273366-96273366
7 PTDSS1 NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln) SNV Uncertain Significance
429519 rs1131691429 GRCh37: 8:97296349-97296349
GRCh38: 8:96284121-96284121
8 PTDSS1 NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys) SNV Uncertain Significance
800750 rs1586200380 GRCh37: 8:97318709-97318709
GRCh38: 8:96306481-96306481
9 PTDSS1 NM_014754.3(PTDSS1):c.1242+27A>G SNV Benign
1279187 GRCh37: 8:97342536-97342536
GRCh38: 8:96330308-96330308
10 PTDSS1 NM_014754.3(PTDSS1):c.1312+12_1312+17del MICROSAT Benign
1273820 GRCh37: 8:97343327-97343332
GRCh38: 8:96331099-96331104
11 PTDSS1 NM_014754.3(PTDSS1):c.1073+48T>A SNV Benign
1278468 GRCh37: 8:97321898-97321898
GRCh38: 8:96309670-96309670

UniProtKB/Swiss-Prot genetic disease variations for Lenz-Majewski Hyperostotic Dwarfism:

73
# Symbol AA change Variation ID SNP ID
1 PTDSS1 p.Leu265Pro VAR_070987 rs587777090
2 PTDSS1 p.Pro269Ser VAR_070988 rs587777089
3 PTDSS1 p.Gln353Arg VAR_070989 rs587777088

Expression for Lenz-Majewski Hyperostotic Dwarfism

Search GEO for disease gene expression data for Lenz-Majewski Hyperostotic Dwarfism.

Pathways for Lenz-Majewski Hyperostotic Dwarfism

Pathways related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 CHKB DDHD1 DDHD2 OSBPL5 OSBPL8 OSBPL9
2
Show member pathways
12.12 SACM1L PTDSS2 PTDSS1 PISD PI4KA PI4K2A
3
Show member pathways
12 SACM1L PI4KA PI4K2A
4
Show member pathways
11.04 PTDSS1 PI4K2A CHKB
5 10.88 PTDSS2 PTDSS1 PISD PCYT1A CHKB
6 10.85 PCYT1A CHKB
7 10.83 SACM1L PI4KA PI4K2A
8 10.48 PI4KA PI4K2A

GO Terms for Lenz-Majewski Hyperostotic Dwarfism

Cellular components related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.77 SGMS2 SACM1L PTDSS2 PTDSS1 PCYT1A OSBPL8
2 endoplasmic reticulum-plasma membrane contact site GO:0140268 8.92 SACM1L OSBPL5

Biological processes related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylcholine biosynthetic process GO:0006656 9.8 PCYT1A CHKB
2 positive regulation of mitochondrial fission GO:0090141 9.76 DDHD2 DDHD1
3 sterol transport GO:0015918 9.73 OSBPL9 OSBPL8
4 phosphatidylinositol biosynthetic process GO:0006661 9.73 SACM1L PI4KA PI4K2A
5 phosphatidylethanolamine biosynthetic process GO:0006646 9.71 PISD CHKB
6 phosphatidylserine acyl-chain remodeling GO:0036150 9.67 OSBPL8 OSBPL5
7 lipid transport GO:0006869 9.65 OSBPL9 OSBPL8 OSBPL5
8 CDP-choline pathway GO:0006657 9.62 CHKB PCYT1A
9 phosphatidylserine biosynthetic process GO:0006659 9.46 PTDSS2 PTDSS1
10 lipid metabolic process GO:0006629 9.36 SGMS2 SACM1L PTDSS2 PTDSS1 PISD PI4KA
11 phospholipid biosynthetic process GO:0008654 9.35 PTDSS2 PTDSS1 PISD PCYT1A CHKB

Molecular functions related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.02 SGMS2 PTDSS2 PTDSS1 PI4KA PI4K2A PCYT1A
2 phospholipase activity GO:0004620 9.76 DDHD2 DDHD1
3 lipid binding GO:0008289 9.73 PCYT1A OSBPL9 OSBPL8 OSBPL5
4 phospholipid transporter activity GO:0005548 9.71 OSBPL8 OSBPL5
5 1-phosphatidylinositol 4-kinase activity GO:0004430 9.62 PI4K2A PI4KA
6 phosphatidylserine transfer activity GO:0140343 9.56 OSBPL8 OSBPL5
7 L-serine-phosphatidylethanolamine phosphatidyltransferase activity GO:0106245 9.46 PTDSS2 PTDSS1
8 sterol binding GO:0032934 9.43 OSBPL9 OSBPL8 OSBPL5
9 sterol transporter activity GO:0015248 9.1 OSBPL9 OSBPL8 OSBPL5

Sources for Lenz-Majewski Hyperostotic Dwarfism

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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