MCID: HLL001
MIFTS: 55

Hallermann-Streiff Syndrome

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

Aliases & Classifications for Hallermann-Streiff Syndrome

MalaCards integrated aliases for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 54 12 50 24 56 71 29 13 14
Francois Dyscephalic Syndrome 12 50 24 71
Hallermann's Syndrome 12 42 69
Hss 50 71
Hallermann Streiff Francois Syndrome 50
François Dyscephalic Syndrome 56
Oculomandibulofacial Syndrome 56
Hallerman - Streiff Syndrome 12
Hallermann Streiff Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
hallermann-streiff syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
isolated cases

Miscellaneous:
all cases have been sporadic


HPO:

32
hallermann-streiff syndrome:
Inheritance sporadic


Classifications:



Summaries for Hallermann-Streiff Syndrome

NIH Rare Diseases : 50 hallermann-streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. intellectual disability is present in some individuals. almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. treatment is symptomatic and supportive. last updated: 7/23/2012

MalaCards based summary : Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to neurodegeneration with brain iron accumulation and neurodegeneration with brain iron accumulation 1, and has symptoms including congenital cataract, visual impairment and nystagmus. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Proteoglycans in cancer and Adipogenesis. Affiliated tissues include skin, bone and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

UniProtKB/Swiss-Prot : 71 Hallermann-Streiff syndrome: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.

OMIM : 54
Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990). (234100)

Disease Ontology : 12 A syndrome that affects growth, cranial development, hair growth and dental development.

Related Diseases for Hallermann-Streiff Syndrome

Graphical network of the top 20 diseases related to Hallermann-Streiff Syndrome:



Diseases related to Hallermann-Streiff Syndrome

Symptoms & Phenotypes for Hallermann-Streiff Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
lordosis
spina bifida
winging of scapula

Neurologic- Central Nervous System:
choreoathetosis
hyperactivity
generalized tonic-clonic seizures
mental retardation (15%)

Head And Neck- Ears:
low-set ears

Chest- Ribs Sternum Clavicles And Scapulae:
thin ribs
decreased number of sternal ossification centers

Skeletal- Limbs:
thin, gracile long bones
metaphyseal widening
hyperextensible joints

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Teeth:
malocclusion
selective tooth agenesis
neonatal teeth
supernumerary teeth
persistence of neonatal teeth

Respiratory- Airways:
tracheomalacia

Respiratory- Nasopharynx:
obstructive sleep apnea

Growth- Height:
proportionate small stature
average male height 155-157 cm
average female height 152 cm

Skeletal- Hands:
thin, gracile metacarpals

Head And Neck- Eyes:
nystagmus
strabismus
cataracts
microphthalmia
iris coloboma
more
Head And Neck- Head:
microcephaly
brachycephaly
scaphocephaly
parietal bossing
platybasia

Head And Neck- Face:
micrognathia
frontal bossing
malar hypoplasia

Skeletal- Skull:
wormian bones
thin calvarium
delayed ossification of sutures
shallow sella turcica
absence of mandibular condyles

Head And Neck- Mouth:
everted lower lip
narrow palate
microstomia
thin lips
high arched palate

Growth- Weight:
low birth weight

Respiratory- Lung:
pulmonary hypertension
pulmonary infections

Skin Nails & Hair- Skin:
xerosis
telangiectases
skin atrophy (over nose and scalp sutural areas)

Chest- External Features:
funnel chest

Head And Neck- Nose:
thin, small pointed nose
nasal cartilage hypoplasia

Skin Nails & Hair- Hair:
thin, light hair
hypotrichosis (especially scalp, eyebrows, and eyelashes)


Clinical features from OMIM:

234100

Human phenotypes related to Hallermann-Streiff Syndrome:

56 32 (show top 50) (show all 93)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000519
2 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
3 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
5 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
6 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
7 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
8 alopecia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001596
9 choanal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000453
10 microphthalmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000568
11 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
12 cerebellar hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001321
13 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
14 short ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000773
15 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
16 telecanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000506
17 intellectual disability 56 32 very rare (1%) Occasional (29-5%) HP:0001249
18 recurrent fractures 56 32 frequent (33%) Frequent (79-30%) HP:0002757
19 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
20 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
21 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
22 tracheomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002779
23 sparse eyelashes 56 32 frequent (33%) Frequent (79-30%) HP:0000653
24 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
25 hypotrichosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001006
26 malar flattening 56 32 frequent (33%) Frequent (79-30%) HP:0000272
27 sparse body hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002231
28 glossoptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000162
29 uveitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000554
30 high, narrow palate 56 32 frequent (33%) Frequent (79-30%) HP:0002705
31 rib exostoses 56 32 hallmark (90%) Very frequent (99-80%) HP:0000896
32 convex nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000444
33 narrow mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000160
34 small hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0200055
35 proportionate short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003508
36 short foot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001773
37 reduced bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0004349
38 underdeveloped nasal alae 56 32 frequent (33%) Frequent (79-30%) HP:0000430
39 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
40 increased number of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0011069
41 abnormality of the fontanelles or cranial sutures 56 32 frequent (33%) Frequent (79-30%) HP:0000235
42 abdominal situs inversus 56 32 occasional (7.5%) Occasional (29-5%) HP:0003363
43 natal tooth 56 32 frequent (33%) Frequent (79-30%) HP:0000695
44 abnormality of hair texture 56 32 frequent (33%) Frequent (79-30%) HP:0010719
45 dermal atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0004334
46 scoliosis 32 HP:0002650
47 recurrent respiratory infections 32 HP:0002205
48 choreoathetosis 32 HP:0001266
49 low-set ears 32 HP:0000369
50 thin ribs 32 HP:0000883

GenomeRNAi Phenotypes related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.81 IGF1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.81 BCS1L
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.81 IGF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.81 IGF2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.81 NOTCH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.81 IGF2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.81 IGF1 NOTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.81 NOTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.81 IGF1 IGF2 NOTCH1 BCS1L
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.81 IGF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.81 IGF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.81 IGF2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.81 IGF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.81 NOTCH1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.81 IGF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.81 IGF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.81 NOTCH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.81 IGF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.81 BCS1L
20 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.81 NOTCH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.81 IGF2 BCS1L
22 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.81 IGF2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.81 NOTCH1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.81 IGF2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.81 IGF2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.81 IGF1

MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 IGF2 LMNA NOTCH1 WNT5A ZMPSTE24 BCS1L
2 growth/size/body region MP:0005378 10.29 BCOR BCS1L GJA1 GJB1 ICMT IGF1
3 behavior/neurological MP:0005386 10.27 BCS1L ERBB4 GJA1 GJB1 GJC2 IGF2
4 hematopoietic system MP:0005397 10.24 ERBB4 GJA1 GJB1 GJC2 ICMT IGF1
5 mortality/aging MP:0010768 10.24 ICMT IGF1 IGF2 LMNA MID1 NOTCH1
6 cardiovascular system MP:0005385 10.22 IGF2 LMNA NOTCH1 WNT5A ZMPSTE24 BCOR
7 immune system MP:0005387 10.22 ERBB4 GJA1 GJB1 GJC2 IGF1 IGF2
8 endocrine/exocrine gland MP:0005379 10.18 BCS1L ERBB4 GJA1 IGF1 IGF2 LMNA
9 embryo MP:0005380 10.14 BCOR ERBB4 GJA1 ICMT IGF2 MID1
10 craniofacial MP:0005382 10.09 NOTCH1 WNT5A ZMPSTE24 ERBB4 GJA1 IGF2
11 nervous system MP:0003631 10.07 BCOR ERBB4 GJA1 GJB1 GJC2 ICMT
12 integument MP:0010771 10.06 ZMPSTE24 ERBB4 GJA1 ICMT IGF1 IGF2
13 liver/biliary system MP:0005370 10.01 BCS1L GJB1 ICMT IGF2 LMNA NOTCH1
14 muscle MP:0005369 9.92 ERBB4 GJA1 IGF1 IGF2 LMNA MID1
15 limbs/digits/tail MP:0005371 9.91 WNT5A ZMPSTE24 GJA1 IGF1 IGF2 LMNA
16 normal MP:0002873 9.81 ERBB4 GJA1 GJC2 ICMT IGF1 LMNA
17 renal/urinary system MP:0005367 9.5 BCS1L IGF1 IGF2 LMNA NOTCH1 WNT5A
18 respiratory system MP:0005388 9.17 ERBB4 GJA1 IGF1 IGF2 LMNA NOTCH1

Drugs & Therapeutics for Hallermann-Streiff Syndrome

Search Clinical Trials , NIH Clinical Center for Hallermann-Streiff Syndrome

Cochrane evidence based reviews: hallermann's syndrome

Genetic Tests for Hallermann-Streiff Syndrome

Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome 29 24

Anatomical Context for Hallermann-Streiff Syndrome

MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

39
Skin, Bone, Eye, Heart, Tongue, Brain, Cerebellum

Publications for Hallermann-Streiff Syndrome

Articles related to Hallermann-Streiff Syndrome:

(show top 50) (show all 98)
id Title Authors Year
1
Hallermann-Streiff syndrome with bilateral microphthalmia, pupillary membranes and cataract absorption. ( 28730099 )
2017
2
EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME. ( 27648586 )
2016
3
Brown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome. ( 26865807 )
2016
4
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. ( 26194770 )
2015
5
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. ( 25966733 )
2015
6
Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: clinical aspects, cone beam computed tomography findings, and conservative clinical approach. ( 25047934 )
2014
7
Hallermann-Streiff syndrome with cutaneous manifestations. ( 24168356 )
2013
8
Hallermann-streiff syndrome. ( 24082185 )
2013
9
Hallermann-Streiff syndrome without cataract: case report from Kosova. ( 24601178 )
2013
10
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. ( 22486910 )
2012
11
Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome. ( 22996707 )
2012
12
Orodental findings in Hallermann-Streiff syndrome. ( 22842271 )
2012
13
Retinal detachments involving the posterior pole in hallermann-streiff syndrome. ( 25389686 )
2011
14
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. ( 21821160 )
2011
15
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? ( 21792277 )
2011
16
Hallermann-Streiff syndrome: case report and literature review. ( 21516279 )
2011
17
Hallermann-Streiff syndrome: a case report from Georgia. ( 21617280 )
2011
18
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. ( 22570643 )
2011
19
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. ( 22393346 )
2011
20
Surgical correction of Hallermann-Streiff syndrome: a case report of esotropia, entropion, and blepharoptosis. ( 21461230 )
2011
21
Reproductive success in patients with Hallermann-Streiff syndrome. ( 21815247 )
2011
22
Hallermann-Streiff syndrome: a case report. ( 21163145 )
2010
23
Hallermann-Streiff syndrome with hemihypertrophy. ( 20964125 )
2010
24
Craniodentofacial manifestations in Hallermann-Streiff syndrome. ( 19241797 )
2009
25
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. ( 19247763 )
2009
26
Hallermann-Streiff Syndrome: a case report from Turkey. ( 19218897 )
2009
27
Macular retinal detachment in Hallermann-Streiff syndrome. ( 18268225 )
2008
28
Corneal opacities in the Hallermann-Streiff syndrome. ( 18484310 )
2008
29
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. ( 18193263 )
2008
30
Hallermann-Streiff syndrome: those are not supernumerary teeth. ( 16615982 )
2006
31
Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum. ( 16225817 )
2005
32
Hallermann-Streiff syndrome: a case review. ( 15347328 )
2004
33
An atypical Hallermann-Streiff syndrome. Focus on dental care and differential diagnosis. ( 14765641 )
2004
34
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. ( 15581837 )
2004
35
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. ( 12892173 )
2003
36
Case report: orofacial characteristics of Hallermann-Streiff Syndrome. ( 14529338 )
2003
37
Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. ( 10573253 )
1999
38
Commentary on Hallermann-Streiff Syndrome: experience with 15 patients and review of the literature. ( 10576803 )
1999
39
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. ( 10388418 )
1999
40
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. ( 9301367 )
1997
41
Atrial septal defect in Hallermann Streiff syndrome. ( 9219014 )
1997
42
Hallermann--Streiff syndrome. ( 9586407 )
1997
43
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. ( 8585575 )
1995
44
A typical Hallermann-Streiff syndrome in a 3 year old child. ( 8634201 )
1995
45
Hallermann-Streiff syndrome: airway problems during anaesthesia. ( 9136243 )
1994
46
Hallermann-Streiff syndrome with Coats disease. ( 8014786 )
1994
47
Hallermann-Streiff syndrome in one of dizygotic twins. ( 8116678 )
1994
48
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. ( 7864053 )
1994
49
Hallermann-Streiff syndrome. ( 8262609 )
1993
50
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication. ( 8275573 )
1993

Variations for Hallermann-Streiff Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hallermann-Streiff Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 GJA1 p.Arg76His VAR_058997 rs267606844

Expression for Hallermann-Streiff Syndrome

Search GEO for disease gene expression data for Hallermann-Streiff Syndrome.

Pathways for Hallermann-Streiff Syndrome

GO Terms for Hallermann-Streiff Syndrome

Cellular components related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 9.13 GJA1 GJB1 GJC2
2 connexin complex GO:0005922 8.8 GJA1 GJB1 GJC2

Biological processes related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 ERBB4 IGF1 IGF2 NOTCH1 WNT5A
2 heart development GO:0007507 9.73 BCOR ERBB4 GJA1 NOTCH1
3 axonogenesis GO:0007409 9.7 NOTCH1 OMD WNT5A
4 regulation of cell migration GO:0030334 9.63 ERBB4 LMNA NOTCH1
5 nuclear envelope organization GO:0006998 9.54 LMNA ZMPSTE24
6 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.51 IGF1 LMNA
7 positive regulation of epithelial cell proliferation GO:0050679 9.5 IGF1 NOTCH1 WNT5A
8 positive regulation of glycogen biosynthetic process GO:0045725 9.49 IGF1 IGF2
9 cell fate commitment GO:0045165 9.43 ERBB4 NOTCH1 WNT5A
10 gap junction assembly GO:0016264 9.4 GJA1 GJB1
11 pericardium morphogenesis GO:0003344 9.37 NOTCH1 WNT5A
12 negative regulation of mesenchymal cell proliferation GO:0072201 9.16 LMNA WNT5A
13 cell communication GO:0007154 8.8 GJA1 GJB1 GJC2
14 cell communication by electrical coupling GO:0010644 8.65 GJA1

Molecular functions related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor receptor binding GO:0005159 9.16 IGF1 IGF2
2 gap junction channel activity GO:0005243 8.96 GJA1 GJB1
3 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.32 GJA1

Sources for Hallermann-Streiff Syndrome

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16 ExPASy
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