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 heart, 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 10.4
7 moyamoya disease 1 10.4
8 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 all 50)
# 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 abnormality of the fingernails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001231
25 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
26 abnormality of the elbow 60 33 occasional (7.5%) Occasional (29-5%) HP:0009811
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 palate morphology 33 occasional (7.5%) HP:0000174
39 macrocephaly 33 HP:0000256
40 low-set ears 33 HP:0000369
41 short neck 33 HP:0000470
42 prominent forehead 33 HP:0011220
43 strabismus 33 HP:0000486
44 atrial septal defect 33 HP:0001631
45 polyhydramnios 33 HP:0001561
46 ventricular septal defect 33 HP:0001629
47 abnormality of the palate 60 Occasional (29-5%)
48 hyperactivity 33 HP:0000752
49 posteriorly rotated ears 33 HP:0000358
50 loose anagen hair 33 HP:0040169

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
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, Heart

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 11)
# 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
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. ( 25563136 )
2015
4
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
5
Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair. ( 25858597 )
2015
6
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. ( 24458596 )
2014
7
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). ( 24124081 )
2013
8
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. ( 22419608 )
2012
9
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. ( 22253195 )
2012
10
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. ( 19684605 )
2009
11
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 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOC2 NM_007373.3(SHOC2): c.-179T> A single nucleotide variant Likely benign rs143180451 GRCh37 Chromosome 10, 112723938: 112723938
2 SHOC2 NM_007373.3(SHOC2): c.-179T> A single nucleotide variant Likely benign rs143180451 GRCh38 Chromosome 10, 110964180: 110964180
3 SHOC2 NM_007373.3(SHOC2): c.519G> A (p.Met173Ile) single nucleotide variant Uncertain significance rs730881020 GRCh37 Chromosome 10, 112724635: 112724635
4 SHOC2 NM_007373.3(SHOC2): c.519G> A (p.Met173Ile) single nucleotide variant Uncertain significance rs730881020 GRCh38 Chromosome 10, 110964877: 110964877
5 SHOC2 NM_007373.3(SHOC2): c.973-5delT deletion Benign/Likely benign rs730881016 GRCh37 Chromosome 10, 112764359: 112764359
6 SHOC2 NM_007373.3(SHOC2): c.973-5delT deletion Benign/Likely benign rs730881016 GRCh38 Chromosome 10, 111004601: 111004601
7 SHOC2 NM_007373.3(SHOC2): c.*3T> C single nucleotide variant Benign/Likely benign rs143187497 GRCh37 Chromosome 10, 112771579: 112771579
8 SHOC2 NM_007373.3(SHOC2): c.*3T> C single nucleotide variant Benign/Likely benign rs143187497 GRCh38 Chromosome 10, 111011821: 111011821
9 SHOC2 NM_007373.3(SHOC2): c.1239G> T (p.Gln413His) single nucleotide variant Uncertain significance rs200215822 GRCh37 Chromosome 10, 112767366: 112767366
10 SHOC2 NM_007373.3(SHOC2): c.1239G> T (p.Gln413His) single nucleotide variant Uncertain significance rs200215822 GRCh38 Chromosome 10, 111007608: 111007608
11 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh37 Chromosome 10, 112724120: 112724120
12 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh38 Chromosome 10, 110964362: 110964362
13 SHOC2 NM_007373.3(SHOC2): c.-159T> C single nucleotide variant Benign/Likely benign rs72819758 GRCh37 Chromosome 10, 112723958: 112723958
14 SHOC2 NM_007373.3(SHOC2): c.-159T> C single nucleotide variant Benign/Likely benign rs72819758 GRCh38 Chromosome 10, 110964200: 110964200
15 SHOC2 NM_007373.3(SHOC2): c.1161+9A> G single nucleotide variant Benign/Likely benign rs201795589 GRCh37 Chromosome 10, 112764561: 112764561
16 SHOC2 NM_007373.3(SHOC2): c.1161+9A> G single nucleotide variant Benign/Likely benign rs201795589 GRCh38 Chromosome 10, 111004803: 111004803
17 SHOC2 NM_007373.3(SHOC2): c.457C> T (p.Leu153=) single nucleotide variant Benign rs34081996 GRCh37 Chromosome 10, 112724573: 112724573
18 SHOC2 NM_007373.3(SHOC2): c.457C> T (p.Leu153=) single nucleotide variant Benign rs34081996 GRCh38 Chromosome 10, 110964815: 110964815
19 SHOC2 NM_007373.3(SHOC2): c.841+12G> A single nucleotide variant Benign/Likely benign rs201258692 GRCh37 Chromosome 10, 112745535: 112745535
20 SHOC2 NM_007373.3(SHOC2): c.841+12G> A single nucleotide variant Benign/Likely benign rs201258692 GRCh38 Chromosome 10, 110985777: 110985777
21 SHOC2 NM_007373.3(SHOC2): c.1423-7C> T single nucleotide variant Benign rs180671383 GRCh37 Chromosome 10, 112769464: 112769464
22 SHOC2 NM_007373.3(SHOC2): c.1423-7C> T single nucleotide variant Benign rs180671383 GRCh38 Chromosome 10, 111009706: 111009706
23 SHOC2 NM_007373.3(SHOC2): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign rs145463534 GRCh37 Chromosome 10, 112771421: 112771421
24 SHOC2 NM_007373.3(SHOC2): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign rs145463534 GRCh38 Chromosome 10, 111011663: 111011663
25 SHOC2 NM_007373.3(SHOC2): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200015085 GRCh37 Chromosome 10, 112724726: 112724726
26 SHOC2 NM_007373.3(SHOC2): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200015085 GRCh38 Chromosome 10, 110964968: 110964968
27 SHOC2 NM_007373.3(SHOC2): c.*518T> C single nucleotide variant Uncertain significance rs886046731 GRCh38 Chromosome 10, 111012336: 111012336
28 SHOC2 NM_007373.3(SHOC2): c.*518T> C single nucleotide variant Uncertain significance rs886046731 GRCh37 Chromosome 10, 112772094: 112772094
29 SHOC2 NM_007373.3(SHOC2): c.*697C> T single nucleotide variant Likely benign rs189140753 GRCh38 Chromosome 10, 111012515: 111012515
30 SHOC2 NM_007373.3(SHOC2): c.*697C> T single nucleotide variant Likely benign rs189140753 GRCh37 Chromosome 10, 112772273: 112772273
31 SHOC2 NM_007373.3(SHOC2): c.*773G> A single nucleotide variant Likely benign rs114628508 GRCh38 Chromosome 10, 111012591: 111012591
32 SHOC2 NM_007373.3(SHOC2): c.*773G> A single nucleotide variant Likely benign rs114628508 GRCh37 Chromosome 10, 112772349: 112772349
33 SHOC2 NM_007373.3(SHOC2): c.*1218C> T single nucleotide variant Uncertain significance rs886046735 GRCh38 Chromosome 10, 111013036: 111013036
34 SHOC2 NM_007373.3(SHOC2): c.*1218C> T single nucleotide variant Uncertain significance rs886046735 GRCh37 Chromosome 10, 112772794: 112772794
35 SHOC2 NM_007373.3(SHOC2): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs751292868 GRCh37 Chromosome 10, 112724817: 112724817
36 SHOC2 NM_007373.3(SHOC2): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs751292868 GRCh38 Chromosome 10, 110965059: 110965059
37 SHOC2 NM_007373.3(SHOC2): c.1284+15G> A single nucleotide variant Uncertain significance rs770745229 GRCh37 Chromosome 10, 112767426: 112767426
38 SHOC2 NM_007373.3(SHOC2): c.1284+15G> A single nucleotide variant Uncertain significance rs770745229 GRCh38 Chromosome 10, 111007668: 111007668
39 SHOC2 NM_007373.3(SHOC2): c.1422+9_1422+11delTAT deletion Uncertain significance rs750754038 GRCh37 Chromosome 10, 112769152: 112769154
40 SHOC2 NM_007373.3(SHOC2): c.1422+9_1422+11delTAT deletion Uncertain significance rs750754038 GRCh38 Chromosome 10, 111009394: 111009396
41 SHOC2 NM_007373.3(SHOC2): c.*404A> G single nucleotide variant Uncertain significance rs539394184 GRCh38 Chromosome 10, 111012222: 111012222
42 SHOC2 NM_007373.3(SHOC2): c.*404A> G single nucleotide variant Uncertain significance rs539394184 GRCh37 Chromosome 10, 112771980: 112771980
43 SHOC2 NM_007373.3(SHOC2): c.*506_*509delTTTT deletion Likely benign rs371679867 GRCh38 Chromosome 10, 111012324: 111012327
44 SHOC2 NM_007373.3(SHOC2): c.*506_*509delTTTT deletion Likely benign rs371679867 GRCh37 Chromosome 10, 112772082: 112772085
45 SHOC2 NM_007373.3(SHOC2): c.*614T> G single nucleotide variant Uncertain significance rs886046732 GRCh38 Chromosome 10, 111012432: 111012432
46 SHOC2 NM_007373.3(SHOC2): c.*614T> G single nucleotide variant Uncertain significance rs886046732 GRCh37 Chromosome 10, 112772190: 112772190
47 SHOC2 NM_007373.3(SHOC2): c.*914G> A single nucleotide variant Likely benign rs189223963 GRCh38 Chromosome 10, 111012732: 111012732
48 SHOC2 NM_007373.3(SHOC2): c.*914G> A single nucleotide variant Likely benign rs189223963 GRCh37 Chromosome 10, 112772490: 112772490
49 SHOC2 NM_007373.3(SHOC2): c.*1106A> C single nucleotide variant Likely benign rs118172559 GRCh38 Chromosome 10, 111012924: 111012924
50 SHOC2 NM_007373.3(SHOC2): c.*1106A> C single nucleotide variant Likely benign rs118172559 GRCh37 Chromosome 10, 112772682: 112772682

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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