EEC1
MCID: ECT100
MIFTS: 46

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 (EEC1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

MalaCards integrated aliases for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 56 29 71
Eec Syndrome 12 74 52 58 15
Rudiger Syndrome 1 12 52 71
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 1 12 15
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome 52 58
Walker-Clodius Syndrome 12 52
Eec Syndrome 1 56 12
Eec1 56 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 39
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 52
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/palate, 1 13
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 52
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 12
Ectrodactyly-Cleft Lip/palate Syndrome 52
Ectrodactyly-Cleft Lip-Palate Syndrome 43
Eec Syndrome-1 56
Eec 56

Characteristics:

Orphanet epidemiological data:

58
eec syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
two loci described - eec1 and eec3
majority of eec cases appear to be secondary to tp63 mutations


HPO:

31
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

NIH Rare Diseases : 52 EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip /Palate) is a rare form of ectodermal dysplasia . The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate ; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3 ), caused by mutations in the TP63 gene . The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1 ). EEC syndrome is inherited in an autosomal dominant manner. Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual.

MalaCards based summary : Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1, also known as eec syndrome, is related to bladder exstrophy-epispadias-cloacal exstrophy complex and cleft lip, and has symptoms including photophobia An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Validated targets of C-MYC transcriptional activation and TP53 Network. Affiliated tissues include skin, eye and kidney, and related phenotypes are carious teeth and thick eyebrow

Disease Ontology : 12 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).

Wikipedia : 74 Ectrodactyly-ectodermal dysplasia-cleft syndrome, or EEC, and also referred to as EEC syndrome and split... more...

More information from OMIM: 129900

Related Diseases for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Diseases in the Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 family:

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 33.4 TP63 CNTNAP3
2 cleft lip 32.5 TP63 NECTIN1 EEC1
3 cleft lip/palate 32.5 TP63 NECTIN1 EEC1
4 eec syndrome and related disorders 12.4
5 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.0
6 adult syndrome 11.7
7 limb-mammary syndrome 11.7
8 exstrophy of bladder 11.4
9 ectodermal dysplasia 11.4
10 rudiger syndrome 11.4
11 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.3
12 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.3
13 hartsfield syndrome 11.2
14 split-hand/foot malformation 1 10.9
15 isolated split hand-split foot malformation 10.9
16 keratopathy 10.6
17 cleft palate, isolated 10.5
18 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.5
19 microtia 10.5
20 isolated growth hormone deficiency 10.5
21 hypogonadotropic hypogonadism 10.5
22 corneal disease 10.5
23 dermatitis 10.5
24 holoprosencephaly 10.5
25 hypopituitarism 10.5
26 growth hormone deficiency 10.5
27 pili torti 10.5
28 necrotizing sialometaplasia 10.4 TP63 TP53
29 chromosome 2q35 duplication syndrome 10.4
30 hydronephrosis 10.4
31 tp63-related disorders 10.4
32 cleft lip and alveolus 10.4 TP63 NECTIN1
33 oral leukoplakia 10.4 TP63 TP53
34 isolated cleft lip 10.4 TP63 NECTIN1
35 keratitis, hereditary 10.4
36 otitis media 10.4
37 septooptic dysplasia 10.4
38 charge syndrome 10.4
39 pierre robin syndrome 10.4
40 dermatitis, atopic 10.4
41 microcephaly 10.4
42 allergic conjunctivitis 10.4
43 fissured tongue 10.4
44 corneal degeneration 10.4
45 entropion 10.4
46 hypothyroidism 10.4
47 aggressive periodontitis 10.4
48 candidiasis 10.4
49 folliculitis 10.4
50 periodontitis 10.4

Graphical network of the top 20 diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:



Diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1

Symptoms & Phenotypes for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Human phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
2 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
3 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
4 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
5 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
6 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
7 lacrimation abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000632
8 taurodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000679
9 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
10 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
11 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
12 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
13 nail pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0001803
14 split foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001839
15 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
16 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
17 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
18 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
19 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
20 generalized hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007513
21 keratitis 58 31 frequent (33%) Frequent (79-30%) HP:0000491
22 blepharitis 58 31 frequent (33%) Frequent (79-30%) HP:0000498
23 corneal erosion 58 31 frequent (33%) Frequent (79-30%) HP:0200020
24 urethral atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000068
25 slow-growing hair 58 31 frequent (33%) Frequent (79-30%) HP:0002217
26 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
27 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
28 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
29 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
30 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
31 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
32 aplasia/hypoplasia of the nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0006709
33 nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003764
34 external ear malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008572
35 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
36 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
37 fine hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002213
38 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
39 hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000778
40 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
41 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
42 proximal placement of thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009623
43 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
44 abnormality of the middle ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000370
45 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
46 aplasia/hypoplasia of the breasts 58 31 occasional (7.5%) Occasional (29-5%) HP:0010311
47 growth hormone deficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000824
48 entropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000621
49 inguinal hernia 31 HP:0000023
50 hypertelorism 31 HP:0000316

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
blue irides
blepharophimosis
blepharitis
sparse eyelashes
more
Head And Neck Mouth:
cleft palate
xerostomia
cleft lip
absence of stensen duct

Genitourinary External Genitalia Male:
micropenis

Genitourinary Ureters:
vesicoureteral reflux
ureterocele
megaureter

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
ectrodactyly
syndactyly

Endocrine Features:
growth hormone deficiency
central diabetes insipidus
hypogonadotropic hypogonadism

Genitourinary Internal Genitalia Female:
transverse vaginal septum

Head And Neck Ears:
hearing loss
small auricles
malformed auricles

Head And Neck Nose:
flat nasal tip

Skin Nails Hair Nails:
dystophic nails
pitted nails

Head And Neck Teeth:
microdontia
selective tooth agenesis
caries

Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Nasopharynx:
choanal atresia

Genitourinary Kidneys:
hydronephrosis
renal agenesis
renal dysplasia
duplicated collecting system

Skeletal Hands:
ectrodactyly
syndactyly

Skin Nails Hair Hair:
sparse eyelashes
sparse axillary hair
sparse pubic hair
sparse eyebrows
light colored hair
more
Neurologic Central Nervous System:
semilobar holoprosencephaly
mental retardation (7%)

Head And Neck Face:
maxillary hypoplasia
mild malar hypoplasia

Skin Nails Hair Skin:
fair skin
mild hyperkeratosis

Genitourinary Bladder:
bladder diverticula

Clinical features from OMIM:

129900

UMLS symptoms related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:


photophobia

Drugs & Therapeutics for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Search Clinical Trials , NIH Clinical Center for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1

Cochrane evidence based reviews: ectrodactyly-cleft lip-palate syndrome

Genetic Tests for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Genetic tests related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

# Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 29

Anatomical Context for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

MalaCards organs/tissues related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

40
Skin, Eye, Kidney, Thymus, Breast, Bone, Pituitary

Publications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Articles related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

(show top 50) (show all 214)
# Title Authors PMID Year
1
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. 61 6
21204238 2011
2
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 6 61
17431922 2007
3
Further phenotypic and genetic variation in ADULT syndrome. 61 6
17041931 2006
4
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. 6 61
12838557 2003
5
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 61 6
11462173 2001
6
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 61 6
10839977 2000
7
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 6 61
10535733 1999
8
Hypoplastic thymus and T-cell reduction in EECUT syndrome. 61 56
9066885 1997
9
Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. 6 61
9028452 1997
10
EEC syndrome and genitourinary anomalies: an update. 6 61
8737655 1996
11
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. 61 56
8737656 1996
12
The EEC syndrome: a literature study. 61 56
8723561 1996
13
Twenty-four cases of the EEC syndrome: clinical presentation and management. 61 56
8544192 1995
14
Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome. 56 61
7546455 1995
15
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. 61 56
8411061 1993
16
The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. 61 56
8403456 1993
17
Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. 56 61
8372078 1993
18
Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). 56 61
8500261 1993
19
Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. 56 61
1481851 1992
20
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. 56 61
1424230 1992
21
Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. 61 56
1756598 1991
22
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. 61 56
1773535 1991
23
Dilemmas in counselling: the EEC syndrome. 61 56
2074560 1990
24
EEC syndrome: report on 20 new patients, clinical and genetic considerations. 61 56
2240042 1990
25
EEC syndrome without ectrodactyly: report of two new families. 61 56
2325090 1990
26
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case. 61 56
2325099 1990
27
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. 56 61
2553970 1989
28
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. 56 61
3278611 1988
29
Urinary tract involvement in EEC syndrome. 61 56
4061420 1985
30
EEC syndrome without ectrodactyly? Report of 8 cases. 61 56
4042394 1985
31
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. 56 61
957377 1976
32
Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature. 61 56
1261073 1976
33
The EEC syndrome. Report of six patients. 61 56
4425508 1974
34
TP63-Related Disorders 6
20556892 2010
35
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. 6
18792980 2008
36
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 6
12939657 2003
37
Non-Hodgkin's lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome. 6
10936828 2000
38
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 6
9443880 1998
39
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. 56
7987313 1994
40
Growth hormone deficiency associated with the ectrodactyly-ectodermal dysplasia-clefting syndrome and isolated absent septum pellucidum. 56
3822641 1987
41
Updating a diagnosis. The EEC/EECUT syndrome. 56
4061418 1985
42
[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)]. 56
4801123 1973
43
The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies. 56
4800520 1973
44
The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern. 56
5084380 1972
45
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. 56
5454938 1970
46
Mesoectodermal dysplasia. A new combination of anomalies. 56
6066655 1967
47
THE SYNDROMES OF CLEFT LIP, CLEFT PALATE AND LOBSTER-CLAW DEFORMITIES OF HANDS AND FEET. 56
14103017 1963
48
Ectodermal dysplasia. 56
14494246 1961
49
[Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing]. 61
32034739 2020
50
Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction. 61
30892112 2020

Variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Expression for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Search GEO for disease gene expression data for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1.

Pathways for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Pathways related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.71 TP53 NME2 NME1-NME2
2
Show member pathways
10.3 TP63 TP53

GO Terms for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Biological processes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoside diphosphate phosphorylation GO:0006165 9.32 NME2 NME1-NME2
2 CTP biosynthetic process GO:0006241 9.26 NME2 NME1-NME2
3 GTP biosynthetic process GO:0006183 9.16 NME2 NME1-NME2
4 UTP biosynthetic process GO:0006228 8.96 NME2 NME1-NME2
5 protein tetramerization GO:0051262 8.8 TP63 TP53 SNCA

Molecular functions related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoside diphosphate kinase activity GO:0004550 8.96 NME2 NME1-NME2
2 MDM2/MDM4 family protein binding GO:0097371 8.62 TP63 TP53

Sources for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

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