NSLH1
MCID: NNN028
MIFTS: 37

Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 (NSLH1)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

MalaCards integrated aliases for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

Name: Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 58 76 30 6
Noonan-Like Syndrome with Loose Anagen Hair 58 54 38 13 41
Noonan Syndrome-Like Disorder with Loose Anagen Hair 60 30 74
Tosti Syndrome 58 60 76
Nslh1 58 76
Nslh 58 76
Ns/lah 60

Characteristics:

Orphanet epidemiological data:

60
noonan syndrome-like disorder with loose anagen hair
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
noonan syndrome-like disorder with loose anagen hair 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

OMIM : 58 Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). (607721)

MalaCards based summary : Noonan Syndrome-Like Disorder with Loose Anagen Hair 1, also known as noonan-like syndrome with loose anagen hair, is related to noonan syndrome-like disorder with loose anagen hair 2 and systemic lupus erythematosus. An important gene associated with Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 is SHOC2 (SHOC2 Leucine Rich Repeat Scaffold Protein), and among its related pathways/superpathways is Platelet activation. Affiliated tissues include skin, eye and brain, and related phenotypes are delayed skeletal maturation and short nose

NIH Rare Diseases : 54 Noonan-like syndrome with loose anagen hair is characterized  by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.   

UniProtKB/Swiss-Prot : 76 Noonan syndrome-like disorder with loose anagen hair 1: A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair.

Related Diseases for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Diseases in the Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 family:

Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with loose anagen hair 2 13.1
2 systemic lupus erythematosus 10.4
3 noonan syndrome 1 10.4
4 lupus erythematosus 10.4
5 pseudo-turner syndrome 10.4
6 neuroblastoma 1 10.4
7 moyamoya disease 1 10.4
8 aortic coarctation 10.4
9 growth hormone deficiency 10.4

Graphical network of the top 20 diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:



Diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Symptoms & Phenotypes for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Human phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

60 33 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 webbed neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000465
5 low posterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0002162
6 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
7 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
8 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
9 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
10 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
11 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
12 hypertrophic cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001639
13 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
14 deep philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0002002
15 pulmonic stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0001642
16 aplasia/hypoplasia of the eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0100840
17 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
18 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
19 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
20 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
21 thick lower lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000179
22 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
23 hypoplastic toenails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001800
24 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
25 abnormality of the elbow 60 33 occasional (7.5%) Occasional (29-5%) HP:0009811
26 abnormal palate morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0000174
27 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
28 abnormality of the intervertebral disk 60 33 occasional (7.5%) Occasional (29-5%) HP:0005108
29 ichthyosis 33 occasional (7.5%) HP:0008064
30 feeding difficulties 33 occasional (7.5%) HP:0011968
31 joint laxity 33 occasional (7.5%) HP:0001388
32 nasal speech 33 occasional (7.5%) HP:0001611
33 eczema 33 occasional (7.5%) HP:0000964
34 long eyelashes 33 occasional (7.5%) HP:0000527
35 generalized hypotonia 33 occasional (7.5%) HP:0001290
36 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
37 deep palmar crease 33 occasional (7.5%) HP:0006191
38 abnormal fingernail morphology 33 occasional (7.5%) HP:0001231
39 keratosis pilaris 33 very rare (1%) HP:0032152
40 macrocephaly 33 HP:0000256
41 low-set ears 33 HP:0000369
42 short neck 33 HP:0000470
43 prominent forehead 33 HP:0011220
44 strabismus 33 HP:0000486
45 abnormality of the fingernails 60 Occasional (29-5%)
46 atrial septal defect 33 HP:0001631
47 polyhydramnios 33 HP:0001561
48 ventricular septal defect 33 HP:0001629
49 hyperactivity 33 HP:0000752
50 posteriorly rotated ears 33 HP:0000358

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Height:
short stature

Cardiovascular Heart:
hypertrophic cardiomyopathy
atrial septal defect
ventricular septal defect
pulmonic stenosis
mitral/tricuspid valve dysplasia

Skin Nails Hair Hair:
sparse scalp hair
absent scalp hair
loose anagen hair

Neurologic Central Nervous System:
mental retardation
thin corpus callosum (in some patients)
hypotonia (in some patients)
decreased white matter volume (in some patients)
vertical tentorium (in some patients)
more
Growth Weight:
increased birth weight (in some patients)

Skeletal:
ligamentous laxity (in some patients)

Voice:
hypernasal voice (in some patients)

Head And Neck Eyes:
hypertelorism
strabismus
long eyelashes (in some patients)

Head And Neck Neck:
short neck
webbed neck

Head And Neck Face:
prominent forehead

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomalies

Skin Nails Hair Skin:
darkly pigmented skin
eczema (in some patients)
keratosis pilaris (in some patients)
ichthyosis (in some patients)
increased fine wrinkles (in some patients)
more
Endocrine Features:
low or absent growth hormone (in some patients)

Clinical features from OMIM:

607721

Drugs & Therapeutics for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Genetic Tests for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Genetic tests related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

# Genetic test Affiliating Genes
1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 30 SHOC2
2 Noonan Syndrome-Like Disorder with Loose Anagen Hair 30

Anatomical Context for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

MalaCards organs/tissues related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

42
Skin, Eye, Brain

Publications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Articles related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

(show all 13)
# Title Authors Year
1
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. ( 30240112 )
2018
2
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. ( 29737035 )
2018
3
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy. ( 26096762 )
2015
4
Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair. ( 25858597 )
2015
5
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. ( 25563136 )
2015
6
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. ( 24458596 )
2014
7
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. ( 23918763 )
2013
8
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). ( 24124081 )
2013
9
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. ( 22528146 )
2012
10
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. ( 22253195 )
2012
11
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. ( 22419608 )
2012
12
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. ( 19684605 )
2009
13
Noonan-like syndrome with loose anagen hair: a new syndrome? ( 12673660 )
2003

Variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

76
# Symbol AA change Variation ID SNP ID
1 SHOC2 p.Ser2Gly VAR_060199 rs267607048
2 SHOC2 p.Met173Ile VAR_074030 rs730881020

ClinVar genetic disease variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh37 Chromosome 10, 112724120: 112724120
2 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh38 Chromosome 10, 110964362: 110964362
3 SHOC2 NM_007373.3(SHOC2): c.-159T> C single nucleotide variant Benign/Likely benign rs72819758 GRCh37 Chromosome 10, 112723958: 112723958
4 SHOC2 NM_007373.3(SHOC2): c.-159T> C single nucleotide variant Benign/Likely benign rs72819758 GRCh38 Chromosome 10, 110964200: 110964200
5 SHOC2 NM_007373.3(SHOC2): c.1161+9A> G single nucleotide variant Benign/Likely benign rs201795589 GRCh37 Chromosome 10, 112764561: 112764561
6 SHOC2 NM_007373.3(SHOC2): c.1161+9A> G single nucleotide variant Benign/Likely benign rs201795589 GRCh38 Chromosome 10, 111004803: 111004803
7 SHOC2 NM_007373.3(SHOC2): c.457C> T (p.Leu153=) single nucleotide variant Benign rs34081996 GRCh37 Chromosome 10, 112724573: 112724573
8 SHOC2 NM_007373.3(SHOC2): c.457C> T (p.Leu153=) single nucleotide variant Benign rs34081996 GRCh38 Chromosome 10, 110964815: 110964815
9 SHOC2 NM_007373.3(SHOC2): c.841+12G> A single nucleotide variant Benign/Likely benign rs201258692 GRCh37 Chromosome 10, 112745535: 112745535
10 SHOC2 NM_007373.3(SHOC2): c.841+12G> A single nucleotide variant Benign/Likely benign rs201258692 GRCh38 Chromosome 10, 110985777: 110985777
11 SHOC2 NM_007373.3(SHOC2): c.1423-7C> T single nucleotide variant Benign rs180671383 GRCh37 Chromosome 10, 112769464: 112769464
12 SHOC2 NM_007373.3(SHOC2): c.1423-7C> T single nucleotide variant Benign rs180671383 GRCh38 Chromosome 10, 111009706: 111009706
13 SHOC2 NM_007373.3(SHOC2): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign rs145463534 GRCh37 Chromosome 10, 112771421: 112771421
14 SHOC2 NM_007373.3(SHOC2): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign rs145463534 GRCh38 Chromosome 10, 111011663: 111011663
15 SHOC2 NM_007373.3(SHOC2): c.-179T> A single nucleotide variant Likely benign rs143180451 GRCh37 Chromosome 10, 112723938: 112723938
16 SHOC2 NM_007373.3(SHOC2): c.-179T> A single nucleotide variant Likely benign rs143180451 GRCh38 Chromosome 10, 110964180: 110964180
17 SHOC2 NM_007373.3(SHOC2): c.355A> G (p.Ile119Val) single nucleotide variant Uncertain significance rs147068827 GRCh38 Chromosome 10, 110964713: 110964713
18 SHOC2 NM_007373.3(SHOC2): c.355A> G (p.Ile119Val) single nucleotide variant Uncertain significance rs147068827 GRCh37 Chromosome 10, 112724471: 112724471
19 SHOC2 NM_007373.3(SHOC2): c.519G> A (p.Met173Ile) single nucleotide variant Uncertain significance rs730881020 GRCh37 Chromosome 10, 112724635: 112724635
20 SHOC2 NM_007373.3(SHOC2): c.519G> A (p.Met173Ile) single nucleotide variant Uncertain significance rs730881020 GRCh38 Chromosome 10, 110964877: 110964877
21 SHOC2 NM_007373.3(SHOC2): c.973-5delT deletion Benign/Likely benign rs730881016 GRCh37 Chromosome 10, 112764359: 112764359
22 SHOC2 NM_007373.3(SHOC2): c.973-5delT deletion Benign/Likely benign rs730881016 GRCh38 Chromosome 10, 111004601: 111004601
23 SHOC2 NM_007373.3(SHOC2): c.*3T> C single nucleotide variant Benign/Likely benign rs143187497 GRCh37 Chromosome 10, 112771579: 112771579
24 SHOC2 NM_007373.3(SHOC2): c.*3T> C single nucleotide variant Benign/Likely benign rs143187497 GRCh38 Chromosome 10, 111011821: 111011821
25 SHOC2 NM_007373.3(SHOC2): c.1239G> T (p.Gln413His) single nucleotide variant Uncertain significance rs200215822 GRCh37 Chromosome 10, 112767366: 112767366
26 SHOC2 NM_007373.3(SHOC2): c.1239G> T (p.Gln413His) single nucleotide variant Uncertain significance rs200215822 GRCh38 Chromosome 10, 111007608: 111007608
27 SHOC2 NM_007373.3(SHOC2): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200015085 GRCh37 Chromosome 10, 112724726: 112724726
28 SHOC2 NM_007373.3(SHOC2): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200015085 GRCh38 Chromosome 10, 110964968: 110964968
29 SHOC2 NM_007373.3(SHOC2): c.*518T> C single nucleotide variant Uncertain significance rs886046731 GRCh38 Chromosome 10, 111012336: 111012336
30 SHOC2 NM_007373.3(SHOC2): c.*518T> C single nucleotide variant Uncertain significance rs886046731 GRCh37 Chromosome 10, 112772094: 112772094
31 SHOC2 NM_007373.3(SHOC2): c.*697C> T single nucleotide variant Likely benign rs189140753 GRCh38 Chromosome 10, 111012515: 111012515
32 SHOC2 NM_007373.3(SHOC2): c.*697C> T single nucleotide variant Likely benign rs189140753 GRCh37 Chromosome 10, 112772273: 112772273
33 SHOC2 NM_007373.3(SHOC2): c.*773G> A single nucleotide variant Likely benign rs114628508 GRCh38 Chromosome 10, 111012591: 111012591
34 SHOC2 NM_007373.3(SHOC2): c.*773G> A single nucleotide variant Likely benign rs114628508 GRCh37 Chromosome 10, 112772349: 112772349
35 SHOC2 NM_007373.3(SHOC2): c.*1218C> T single nucleotide variant Uncertain significance rs886046735 GRCh38 Chromosome 10, 111013036: 111013036
36 SHOC2 NM_007373.3(SHOC2): c.*1218C> T single nucleotide variant Uncertain significance rs886046735 GRCh37 Chromosome 10, 112772794: 112772794
37 SHOC2 NM_007373.3(SHOC2): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs751292868 GRCh37 Chromosome 10, 112724817: 112724817
38 SHOC2 NM_007373.3(SHOC2): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs751292868 GRCh38 Chromosome 10, 110965059: 110965059
39 SHOC2 NM_007373.3(SHOC2): c.1284+15G> A single nucleotide variant Uncertain significance rs770745229 GRCh37 Chromosome 10, 112767426: 112767426
40 SHOC2 NM_007373.3(SHOC2): c.1284+15G> A single nucleotide variant Uncertain significance rs770745229 GRCh38 Chromosome 10, 111007668: 111007668
41 SHOC2 NM_007373.3(SHOC2): c.1422+9_1422+11delTAT deletion Uncertain significance rs750754038 GRCh37 Chromosome 10, 112769152: 112769154
42 SHOC2 NM_007373.3(SHOC2): c.1422+9_1422+11delTAT deletion Uncertain significance rs750754038 GRCh38 Chromosome 10, 111009394: 111009396
43 SHOC2 NM_007373.3(SHOC2): c.*404A> G single nucleotide variant Uncertain significance rs539394184 GRCh38 Chromosome 10, 111012222: 111012222
44 SHOC2 NM_007373.3(SHOC2): c.*404A> G single nucleotide variant Uncertain significance rs539394184 GRCh37 Chromosome 10, 112771980: 112771980
45 SHOC2 NM_007373.3(SHOC2): c.*506_*509delTTTT deletion Likely benign rs371679867 GRCh38 Chromosome 10, 111012324: 111012327
46 SHOC2 NM_007373.3(SHOC2): c.*506_*509delTTTT deletion Likely benign rs371679867 GRCh37 Chromosome 10, 112772082: 112772085
47 SHOC2 NM_007373.3(SHOC2): c.*614T> G single nucleotide variant Uncertain significance rs886046732 GRCh38 Chromosome 10, 111012432: 111012432
48 SHOC2 NM_007373.3(SHOC2): c.*614T> G single nucleotide variant Uncertain significance rs886046732 GRCh37 Chromosome 10, 112772190: 112772190
49 SHOC2 NM_007373.3(SHOC2): c.*914G> A single nucleotide variant Likely benign rs189223963 GRCh38 Chromosome 10, 111012732: 111012732
50 SHOC2 NM_007373.3(SHOC2): c.*914G> A single nucleotide variant Likely benign rs189223963 GRCh37 Chromosome 10, 112772490: 112772490

Expression for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Search GEO for disease gene expression data for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1.

Pathways for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Pathways related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to KEGG:

38
# Name Kegg Source Accession
1 Platelet activation hsa04611

GO Terms for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Cellular components related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphatase type 1 complex GO:0000164 8.62 PPP1CB SHOC2

Biological processes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein dephosphorylation GO:0006470 8.62 PPP1CB SHOC2

Molecular functions related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine phosphatase activity GO:0004722 8.62 PPP1CB SHOC2

Sources for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

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35 ICD10 via Orphanet
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