MCID: ALB014
MIFTS: 45

Alobar Holoprosencephaly

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alobar Holoprosencephaly

MalaCards integrated aliases for Alobar Holoprosencephaly:

Name: Alobar Holoprosencephaly 58 6

Characteristics:

Orphanet epidemiological data:

58
alobar holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

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


Summaries for Alobar Holoprosencephaly

MalaCards based summary : Alobar Holoprosencephaly is related to patau syndrome and cleft palate, isolated. An important gene associated with Alobar Holoprosencephaly is STAG2 (Stromal Antigen 2), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include heart, brain and olfactory bulb, and related phenotypes are failure to thrive and short stature

Related Diseases for Alobar Holoprosencephaly

Diseases related to Alobar Holoprosencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 patau syndrome 29.8 ZIC2 SIX3 SHH NODAL FOXH1 DISP1
2 cleft palate, isolated 29.7 SHH PTCH1 GLI2 FGF8
3 chromosome 18p deletion syndrome 29.6 ZIC2 TGIF1 SIX3
4 holoprosencephaly 1 29.4 ZIC2 SIX3 SHH GLI2 GAS1 FGF8
5 microcephaly 29.4 ZIC2 STAG2 SHH PTCH1 GLI2 FGF8
6 holoprosencephaly 2 29.1 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
7 coloboma of macula 29.0 ZIC2 SIX3 SHH PTCH1 FGF8 CDON
8 orofacial cleft 28.9 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8
9 holoprosencephaly 27.3 ZIC2 TGIF1 TDGF1 STAG2 SIX3 SHH
10 holoprosencephaly 13, x-linked 11.2
11 chromosomal triplication 10.6
12 cleft lip 10.5
13 cleft lip/palate 10.4
14 diabetes insipidus 10.3
15 single ventricular heart 10.3
16 polydactyly 10.3
17 omphalocele 10.3
18 hydrocephalus 10.3
19 heart septal defect 10.3
20 hydranencephaly 10.3
21 tooth size 10.2 SHH FGF8
22 hair whorl 10.2
23 sacral defect with anterior meningocele 10.2
24 choanal atresia, posterior 10.2
25 respiratory failure 10.2
26 atrial heart septal defect 10.2
27 craniosynostosis 10.2
28 penis agenesis 10.2
29 polydactyly, preaxial ii 10.1 SHH PTCH1
30 calcifying epithelial odontogenic tumor 10.1 PTCH1 GLI2
31 anus, imperforate 10.1 SHH GLI2 FGF8
32 cerebellum cancer 10.1 SHH PTCH1
33 type 2 diabetes mellitus 10.0
34 macroglossia 10.0
35 neural tube defects 10.0
36 down syndrome 10.0
37 agnathia-otocephaly complex 10.0
38 charge syndrome 10.0
39 cryptorchidism, unilateral or bilateral 10.0
40 cystic fibrosis 10.0
41 hydrocephalus, congenital, 1 10.0
42 hydrops fetalis, nonimmune 10.0
43 intraocular pressure quantitative trait locus 10.0
44 cyanosis, transient neonatal 10.0
45 lymphatic malformation 7 10.0
46 west syndrome 10.0
47 myelomeningocele 10.0
48 intrahepatic cholestasis of pregnancy 10.0
49 pre-eclampsia 10.0
50 microphthalmia 10.0

Graphical network of the top 20 diseases related to Alobar Holoprosencephaly:



Diseases related to Alobar Holoprosencephaly

Symptoms & Phenotypes for Alobar Holoprosencephaly

Human phenotypes related to Alobar Holoprosencephaly:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
4 poor suck 58 31 hallmark (90%) Very frequent (99-80%) HP:0002033
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
7 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
8 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
9 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
10 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
11 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
12 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
13 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
14 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
15 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
16 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
17 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
18 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
19 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
20 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
21 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
22 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
23 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
24 aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0011951
25 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
26 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
27 central apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002871
28 abnormality of the autonomic nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0002270
29 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
30 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
31 abnormality of brainstem morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002363
32 temperature instability 58 31 frequent (33%) Frequent (79-30%) HP:0005968
33 chronic lung disease 58 31 frequent (33%) Frequent (79-30%) HP:0006528
34 abnormal hypothalamus physiology 58 31 frequent (33%) Frequent (79-30%) HP:0012285
35 oromotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0007301
36 sleep-wake cycle disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0006979
37 neural tube defect 58 31 frequent (33%) Frequent (79-30%) HP:0045005
38 aplasia of the falx cerebri 58 31 frequent (33%) Frequent (79-30%) HP:0010654
39 abnormal morphology of the olfactory bulb 58 31 frequent (33%) Frequent (79-30%) HP:0040327
40 seizure 31 frequent (33%) HP:0001250
41 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
42 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
43 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
44 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
45 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
46 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
47 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
48 panhypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000871
49 single median maxillary incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006315
50 cyclopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009914

MGI Mouse Phenotypes related to Alobar Holoprosencephaly:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.42 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
2 embryo MP:0005380 10.41 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
3 growth/size/body region MP:0005378 10.39 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
4 cellular MP:0005384 10.38 CDON DISP1 DLL1 FGF8 GAS1 GLI2
5 craniofacial MP:0005382 10.34 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
6 digestive/alimentary MP:0005381 10.33 CDON DISP1 DLL1 FGF8 FOXH1 GLI2
7 behavior/neurological MP:0005386 10.32 CDON DLL1 FGF8 GAS1 GLI2 HCRT
8 mortality/aging MP:0010768 10.31 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
9 nervous system MP:0003631 10.24 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
10 homeostasis/metabolism MP:0005376 10.22 DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2
11 limbs/digits/tail MP:0005371 10.16 CDON DISP1 DLL1 FGF8 GAS1 GLI2
12 endocrine/exocrine gland MP:0005379 10.13 DISP1 DLL1 FGF8 FOXH1 GLI2 PTCH1
13 hearing/vestibular/ear MP:0005377 10.1 DLL1 FGF8 FOXH1 GAS1 GLI2 PTCH1
14 respiratory system MP:0005388 10.07 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
15 muscle MP:0005369 10.06 DISP1 DLL1 FGF8 FOXH1 GLI2 HCRT
16 normal MP:0002873 10.06 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
17 skeleton MP:0005390 9.97 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
18 vision/eye MP:0005391 9.44 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
19 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Alobar Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Alobar Holoprosencephaly

Genetic Tests for Alobar Holoprosencephaly

Anatomical Context for Alobar Holoprosencephaly

MalaCards organs/tissues related to Alobar Holoprosencephaly:

40
Heart, Brain, Olfactory Bulb, Hypothalamus, Eye, Lung, Cortex

Publications for Alobar Holoprosencephaly

Articles related to Alobar Holoprosencephaly:

(show top 50) (show all 187)
# Title Authors PMID Year
1
First-trimester fetal neurosonography: technique and diagnostic potential. 61
33049801 2021
2
Congenital Agenesis of the Olfactory Bulbs: What to Suspect? 61
33585143 2021
3
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review. 61
31953238 2020
4
Diagnosis of fetal defects in twin pregnancies at routine 11-13-week ultrasound examination. 61
31788879 2020
5
Holoprosencephaly in Kabuki syndrome. 61
31846209 2020
6
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 61
31408229 2019
7
Novel heterozygous variants in KMT2D associated with holoprosencephaly. 61
31282990 2019
8
Ventriculoperitoneal Shunting in Alobar Holoprosencephaly: Does it Work Even When Patient Has No Sign of Raised Intracranial Pressure? 61
30896515 2019
9
Alobar holoprosencephaly detected in a 9-week embryo. 61
30625294 2019
10
Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review. 61
30024536 2018
11
Management Strategies for Hydrocephalus in Alobar Holoprosencephaly: A Case Report and Discussion. 61
29902800 2018
12
7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case. 61
29456484 2017
13
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. 61
28805615 2017
14
Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. 61
27558969 2017
15
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings. 61
28496998 2017
16
[Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism in a 10-month old infant]. 61
29599891 2017
17
Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence. 61
28050387 2016
18
Ameloblastoma during pregnancy: a case report. 61
27599548 2016
19
Spectrum of urorectal septum malformation sequence. 61
26663027 2016
20
Sonographic detection of central nervous system defects in the first trimester of pregnancy. 61
26732542 2016
21
[Morphologic and tomodensitometric comparative analysis of two cyclotocephalic newborns]. 61
26671613 2016
22
The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18. 61
26278930 2015
23
Proboscis Lateralis : A Rare Bilateral Case in Association with Holoprosencephaly. 61
26436002 2015
24
Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature. 61
26166345 2015
25
Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome. 61
27086438 2015
26
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. 61
26625663 2015
27
Cyclopia: a rare condition with unusual presentation - a case report. 61
25698887 2015
28
Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12. 61
26294991 2015
29
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. 61
25864296 2015
30
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. 61
25326191 2014
31
Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. 61
24656289 2014
32
Successful long-term airway stabilization with a modified pacifier in a syndromic infant. 61
23696686 2014
33
Evaluation and prevalence of major central nervous system malformations: a retrospective study. 61
28058307 2014
34
Holoprosencephaly spectrum among Egyptian patients: clinical and cytogenetic study. 61
25804014 2014
35
A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma. 61
24783655 2014
36
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. 61
25365860 2014
37
Alobar holoprosencephaly secondary to CMV infection. 61
25184025 2014
38
Antenatal diagnosis of alobar holoprosencephaly. 61
25126440 2014
39
Iniencephaly and holoprosencephaly: report of a rare association. 61
25105041 2014
40
Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly. 61
24243683 2014
41
Dorsal third ventricular cysts revisited. 61
23296322 2013
42
Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center. 61
23791929 2013
43
Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). 61
31528602 2013
44
Airway management in an infant with alobar holoprosencephaly and cebocephaly associated with maternal diabetes mellitus. 61
23599105 2013
45
Syndrome of inappropriate antidiuretic hormone secretion refractory to treatment in a newborn with alobar holoprosencephaly. 61
24341147 2013
46
Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother. 61
23276570 2012
47
Molecular prenatal diagnosis of a sporadic alobar holoprosencephalic fetus: genotype-phenotype correlations. 61
23181171 2012
48
Prenatal neurologic anomalies: sonographic diagnosis and treatment. 61
22242843 2012
49
Holoprosencephaly: two case reports. 61
23118821 2012
50
Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. 61
23705090 2011

Variations for Alobar Holoprosencephaly

ClinVar genetic disease variations for Alobar Holoprosencephaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DLL1 NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu) SNV Uncertain significance 235090 rs760189276 GRCh37: 6:170592125-170592125
GRCh38: 6:170283037-170283037

Expression for Alobar Holoprosencephaly

Search GEO for disease gene expression data for Alobar Holoprosencephaly.

Pathways for Alobar Holoprosencephaly

Pathways related to Alobar Holoprosencephaly according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.67 SHH PTCH1 GLI2 FGF8 DLL1
2
Show member pathways
12.37 SHH PTCH1 GLI2 GAS1 CDON
3
Show member pathways
12.22 ZIC2 NODAL GLI2 FOXH1 FGF8 DLL1
4 11.98 TDGF1 SHH PTCH1 GLI2 DLL1
5
Show member pathways
11.4 TDGF1 NODAL FOXH1
6 11.37 SHH NODAL FGF8
7 11.33 SHH FOXH1 FGF8
8 11.3 SHH PTCH1 GLI2
9 11.22 SHH PTCH1 GLI2
10 11.06 SHH GLI2 FGF8
11
Show member pathways
10.87 SHH PTCH1 GLI2 GAS1 CDON
12 10.85 SHH PTCH1 GLI2 GAS1 DISP1 CDON
13
Show member pathways
10.82 SHH PTCH1 GLI2
14 10.6 FGF8 DLL1
15 10.44 SHH PTCH1
16 10.41 TGIF1 SHH NODAL FGF8

GO Terms for Alobar Holoprosencephaly

Biological processes related to Alobar Holoprosencephaly according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 SIX3 SHH NODAL GLI2 FOXH1 DLL1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.13 TGIF1 SHH PTCH1 NODAL GLI2 FOXH1
3 positive regulation of transcription, DNA-templated GO:0045893 10.1 ZIC2 SHH PTCH1 GLI2 FOXH1
4 multicellular organism development GO:0007275 10.03 ZIC2 SIX3 SHH NODAL GLI2 FGF8
5 positive regulation of cell proliferation GO:0008284 10.01 TDGF1 SHH NODAL GLI2 FGF8 DLL1
6 brain development GO:0007420 9.97 ZIC2 SIX3 PTCH1 NODAL
7 kidney development GO:0001822 9.9 SHH GLI2 FGF8
8 heart development GO:0007507 9.89 TDGF1 SHH NODAL GLI2 FGF8
9 anatomical structure development GO:0048856 9.82 TDGF1 SHH GLI2
10 negative regulation of cell differentiation GO:0045596 9.81 SHH NODAL DLL1
11 lung development GO:0030324 9.81 SHH NODAL GLI2 FGF8
12 pattern specification process GO:0007389 9.8 SHH PTCH1 GLI2
13 branching involved in ureteric bud morphogenesis GO:0001658 9.77 SHH PTCH1 FGF8
14 branching morphogenesis of an epithelial tube GO:0048754 9.74 SHH GLI2
15 negative regulation of smoothened signaling pathway GO:0045879 9.73 PTCH1 GLI2
16 vasculature development GO:0001944 9.73 SHH NODAL
17 proximal/distal pattern formation GO:0009954 9.73 GLI2 DLL1
18 limb morphogenesis GO:0035108 9.73 PTCH1 FGF8
19 dopaminergic neuron differentiation GO:0071542 9.73 SHH FGF8
20 thyroid gland development GO:0030878 9.73 SHH FGF8
21 mammary gland development GO:0030879 9.73 TDGF1 PTCH1 GLI2
22 embryo development ending in birth or egg hatching GO:0009792 9.72 TDGF1 FGF8
23 regulation of smoothened signaling pathway GO:0008589 9.72 PTCH1 GAS1
24 lung morphogenesis GO:0060425 9.72 SHH FGF8
25 embryonic morphogenesis GO:0048598 9.72 SHH CDON
26 embryonic pattern specification GO:0009880 9.72 SHH NODAL DISP1
27 striated muscle cell differentiation GO:0051146 9.71 SHH CDON
28 hindbrain development GO:0030902 9.71 SHH GLI2
29 cell fate determination GO:0001709 9.71 PTCH1 DLL1
30 pharyngeal system development GO:0060037 9.71 PTCH1 FGF8
31 male genitalia development GO:0030539 9.71 SHH FGF8
32 cell fate commitment GO:0045165 9.71 SHH NODAL GAS1 FGF8
33 osteoblast development GO:0002076 9.7 SHH GLI2
34 somite development GO:0061053 9.7 SHH PTCH1
35 embryonic heart tube development GO:0035050 9.7 NODAL FGF8
36 developmental growth GO:0048589 9.7 SHH GLI2 GAS1
37 aorta morphogenesis GO:0035909 9.69 FOXH1 FGF8
38 negative regulation of androgen receptor signaling pathway GO:0060766 9.69 NODAL FOXH1
39 digestive tract morphogenesis GO:0048546 9.69 SHH NODAL
40 prostate gland development GO:0030850 9.68 SHH PTCH1
41 branching involved in salivary gland morphogenesis GO:0060445 9.68 SHH FGF8
42 smooth muscle tissue development GO:0048745 9.68 SHH PTCH1
43 cell proliferation in forebrain GO:0021846 9.68 SIX3 FGF8
44 metanephric collecting duct development GO:0072205 9.67 SHH PTCH1
45 nodal signaling pathway GO:0038092 9.67 TDGF1 NODAL
46 smoothened signaling pathway GO:0007224 9.67 SHH PTCH1 GLI2 CDON
47 positive regulation of T cell differentiation in thymus GO:0033089 9.66 SHH GLI2
48 positive regulation of skeletal muscle tissue development GO:0048643 9.66 SHH CDON
49 telencephalon regionalization GO:0021978 9.65 SIX3 SHH
50 forebrain dorsal/ventral pattern formation GO:0021798 9.65 SIX3 FGF8

Molecular functions related to Alobar Holoprosencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.43 TDGF1 NODAL FGF8
2 co-SMAD binding GO:0070410 9.16 TGIF1 FOXH1
3 patched binding GO:0005113 8.96 SHH PTCH1
4 morphogen activity GO:0016015 8.62 SHH NODAL

Sources for Alobar Holoprosencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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