AGOTC
MCID: AGN012
MIFTS: 55

Agnathia-Otocephaly Complex (AGOTC)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Agnathia-Otocephaly Complex

MalaCards integrated aliases for Agnathia-Otocephaly Complex:

Name: Agnathia-Otocephaly Complex 57 12 75 37 13 15
Otocephaly 57 12 75 44 73
Dysgnathia Complex Agnathia-Holoprosencephaly 57 12 75
Holoprosencephaly-Agnathia 57 12 75
Agnathia-Holoprosencephaly-Situs Inversus Syndrome 12 59
Agotc 57 75
Dysgnathia Complex 73
Jaw Abnormalities 44

Characteristics:

Orphanet epidemiological data:

59
agnathia-holoprosencephaly-situs inversus syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation in most cases
autosomal recessive inheritance has been reported in 1 case
usually lethal in the neonatal period
incidence is less than 1 in 70,000 births


HPO:

32
agnathia-otocephaly complex:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Agnathia-Otocephaly Complex

OMIM : 57 Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006). (202650)

MalaCards based summary : Agnathia-Otocephaly Complex, also known as otocephaly, is related to dysgnathia complex and holoprosencephaly, and has symptoms including respiratory distress An important gene associated with Agnathia-Otocephaly Complex is PRRX1 (Paired Related Homeobox 1), and among its related pathways/superpathways are Pathways in cancer and Mesodermal Commitment Pathway. Affiliated tissues include trachea, bone and eye, and related phenotypes are agenesis of corpus callosum and abnormality of the eye

Disease Ontology : 12 A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.

UniProtKB/Swiss-Prot : 75 Agnathia-otocephaly complex: A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.

Related Diseases for Agnathia-Otocephaly Complex

Diseases related to Agnathia-Otocephaly Complex via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 dysgnathia complex 32.8 OTX2 PRRX1
2 holoprosencephaly 30.6 FGF8 GLI2 NODAL SHH
3 alobar holoprosencephaly 29.6 FGF8 GLI2 NODAL SHH
4 microphthalmia 29.5 BMP4 GLI2 OTX2 SHH
5 cerebrocostomandibular syndrome 10.8
6 palatopharyngeal incompetence 10.3
7 auriculocondylar syndrome 1 10.2
8 maxillonasal dysplasia, binder type 10.1 ALX3 SHH
9 hemifacial microsomia 10.1 ALX3 OTX2
10 acromelic frontonasal dysostosis 10.1 ALX3 SHH
11 combined pituitary hormone deficiencies, genetic forms 10.0 GLI2 OTX2
12 anencephaly 10.0
13 male infertility 10.0
14 infertility 10.0
15 agnathia-microstomia-synotia 10.0
16 exencephaly 10.0
17 infratentorial cancer 10.0 GLI2 OTX2 SHH
18 pallister-hall syndrome 9.9 GLI2 SHH
19 axenfeld-rieger syndrome, type 1 9.9 BMP4 FGF8 SHH
20 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 GLI2 MSX1 SHH
21 congenital nervous system abnormality 9.9 DCX NODAL SHH
22 focal epithelial hyperplasia 9.8 FGF8 GLI2 SHH
23 syngnathia 9.8 BMP4 FGF8 MSX1
24 cleft palate with or without ankyloglossia, x-linked 9.8 BMP4 FGF8 MSX1
25 septopreoptic holoprosencephaly 9.8 FGF8 GLI2 NODAL SHH
26 midline interhemispheric variant of holoprosencephaly 9.8 FGF8 GLI2 NODAL SHH
27 lobar holoprosencephaly 9.8 FGF8 GLI2 NODAL SHH
28 microform holoprosencephaly 9.8 FGF8 GLI2 NODAL SHH
29 semilobar holoprosencephaly 9.8 FGF8 GLI2 NODAL SHH
30 tooth size 9.8 BMP4 FGF8 MSX1 SHH
31 osteoporosis 9.7
32 bone mineral density quantitative trait locus 8 9.7
33 bone mineral density quantitative trait locus 15 9.7
34 infantile liver failure syndrome 1 9.7
35 cleft palate, isolated 9.7 ALX3 BMP4 MSX1
36 orofacial cleft 9.5 ALX3 BMP4 FGF8 MSX1 NODAL SHH
37 physical disorder 9.4 BMP4 DCX FGF8 MSX1 NODAL SHH

Graphical network of the top 20 diseases related to Agnathia-Otocephaly Complex:



Diseases related to Agnathia-Otocephaly Complex

Symptoms & Phenotypes for Agnathia-Otocephaly Complex

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate
microglossia
microstomia
aglossia
hypoplastic oropharynx

Respiratory Airways:
tracheomalacia
blind-ended trachea

Head And Neck Eyes:
downslanting palpebral fissures
synophthalmia

Respiratory Larynx:
hypoplastic epiglottis
hypoplastic larynx
trachea-oropharynx connection agenesis

Head And Neck Nose:
frontal proboscis

Neurologic Central Nervous System:
holoprosencephaly (variable)
agenesis of the corpus callosum (variable)

Respiratory:
respiratory distress

Head And Neck Ears:
synotia
hearing loss, conductive
ear anomalies

Head And Neck Face:
mandibular hypoplasia
mandibular agenesis
agnathia

Head And Neck Head:
otocephaly

Abdomen:
situs inversus (variable)


Clinical features from OMIM:

202650

Human phenotypes related to Agnathia-Otocephaly Complex:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
2 abnormality of the eye 59 32 Very frequent (99-80%) HP:0000478
3 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
4 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
5 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
6 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
7 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
8 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
9 holoprosencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001360
10 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
11 narrow internal auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0011386
12 situs inversus totalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001696
13 cyclopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009914
14 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
15 absent nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0100596
16 microglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000171
17 mandibular aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009939
18 synotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100663
19 cleft palate 32 HP:0000175
20 micrognathia 32 HP:0000347
21 downslanted palpebral fissures 32 HP:0000494
22 conductive hearing impairment 32 HP:0000405
23 tracheomalacia 32 HP:0002779
24 abnormality of the cranial nerves 59 Very frequent (99-80%)
25 laryngeal hypoplasia 32 HP:0008749
26 abnormality of the outer ear 32 HP:0000356
27 hypoplasia of the epiglottis 32 HP:0005349
28 aglossia 32 HP:0012730
29 abnormal cranial nerve morphology 32 hallmark (90%) HP:0001291

UMLS symptoms related to Agnathia-Otocephaly Complex:


respiratory distress

MGI Mouse Phenotypes related to Agnathia-Otocephaly Complex:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 ALX3 BMP4 CRKL DCX FGF8 GLI2
2 embryo MP:0005380 10.38 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
3 craniofacial MP:0005382 10.37 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
4 behavior/neurological MP:0005386 10.36 ALX3 BMP4 DCX FGF8 GLI2 LBX1
5 mortality/aging MP:0010768 10.34 ALX3 BMP4 CRKL DCX FGF8 GLI2
6 digestive/alimentary MP:0005381 10.33 ALX3 BMP4 FGF8 GLI2 HHAT MSX1
7 cardiovascular system MP:0005385 10.27 BMP4 CRKL FGF8 HHAT LBX1 MSX1
8 nervous system MP:0003631 10.27 ALX3 BMP4 CRKL DCX FGF8 GLI2
9 endocrine/exocrine gland MP:0005379 10.26 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
10 cellular MP:0005384 10.22 ALX3 BMP4 FGF8 GLI2 LBX1 NODAL
11 homeostasis/metabolism MP:0005376 10.22 ALX3 BMP4 FGF8 GLI2 HHAT MSX1
12 hearing/vestibular/ear MP:0005377 10.19 BMP4 CRKL FGF8 GLI2 MSX1 OTX1
13 limbs/digits/tail MP:0005371 10.16 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
14 muscle MP:0005369 10.06 BMP4 FGF8 GLI2 LBX1 MSX1 NODAL
15 reproductive system MP:0005389 10 ALX3 BMP4 DCX FGF8 GLI2 HHAT
16 normal MP:0002873 9.92 BMP4 FGF8 GLI2 LBX1 MSX1 NODAL
17 respiratory system MP:0005388 9.9 ALX3 BMP4 FGF8 GLI2 HHAT MSX1
18 skeleton MP:0005390 9.8 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
19 vision/eye MP:0005391 9.47 ALX3 BMP4 CRKL FGF8 GLI2 HHAT

Drugs & Therapeutics for Agnathia-Otocephaly Complex

Search Clinical Trials , NIH Clinical Center for Agnathia-Otocephaly Complex

Cochrane evidence based reviews: jaw abnormalities

Genetic Tests for Agnathia-Otocephaly Complex

Anatomical Context for Agnathia-Otocephaly Complex

MalaCards organs/tissues related to Agnathia-Otocephaly Complex:

41
Trachea, Bone, Eye, Cerebellum, Liver, Pituitary, Thyroid

Publications for Agnathia-Otocephaly Complex

Articles related to Agnathia-Otocephaly Complex:

(show all 42)
# Title Authors Year
1
First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature. ( 30171631 )
2018
2
Cyclopia: isolated and with agnathia-otocephaly complex. ( 28855214 )
2017
3
A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. ( 27442045 )
2017
4
Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester. ( 27087030 )
2016
5
Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations. ( 27258179 )
2016
6
Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature. ( 27579201 )
2016
7
Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-Up of 4 Patients from Birth Through Adulthood. ( 26397488 )
2015
8
Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood. ( 26517463 )
2015
9
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. ( 25589041 )
2015
10
Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. ( 23444262 )
2013
11
Prenatal diagnosis of agnathia-otocephaly using sonography and magnetic resonance imaging. ( 23887968 )
2013
12
Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes. ( 22198066 )
2012
13
Aprosencephaly with otocephaly in a lamb (Ovis aries). ( 22431914 )
2012
14
Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly. ( 22674740 )
2012
15
Otocephaly: Prenatal and postnatal imaging findings. ( 21977107 )
2011
16
Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly. ( 20594144 )
2010
17
Current perspectives on the etiology of agnathia-otocephaly. ( 20849990 )
2010
18
Agnathia-synotia-microstomia (otocephaly): a case report in an African woman. ( 23457854 )
2010
19
Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate. ( 18049088 )
2008
20
Prenatal three-dimensional ultrasonography in a case of agnathia-otocephaly. ( 18840176 )
2008
21
Agnathia-otocephaly. ( 19283980 )
2008
22
A case of agnathia-otocephaly complex assessed prenatally for ex utero intrapartum treatment (EXIT) by three-dimensional ultrasonography. ( 17497748 )
2007
23
Early second-trimester diagnosis of fetal otocephaly. ( 17330829 )
2007
24
Three-dimensional ultrasound in prenatal diagnosis of isolated otocephaly. ( 17471605 )
2007
25
Otocephaly, and pulmonary malformation association: two case reports. ( 16970034 )
2006
26
Otocephaly: report of five new cases and a literature review. ( 17438667 )
2006
27
Otocephaly or agnathia-synotia-microstomia syndrome: report of a case. ( 12856261 )
2003
28
Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. ( 12244557 )
2002
29
Otocephaly: prenatal diagnosis of a new case and etiopathogenetic considerations. ( 10706365 )
2000
30
Prenatal diagnosis of otocephaly using two-dimensional and three-dimensional ultrasonography. ( 9644778 )
1998
31
Otocephaly: prenatal sonographic diagnosis. ( 9733181 )
1998
32
Nonlethal case of otocephaly and its implications for treatment. ( 9133850 )
1996
33
Otocephaly. ( 8572548 )
1995
34
Otocephaly-midline malformation association. ( 2817004 )
1989
35
Otocephaly: report of a case with ultrasound findings. ( 3070176 )
1988
36
Cyclopia-otocephaly association: a new case of the most severe variant of agnathia-holoprosencephaly complex. ( 3114309 )
1987
37
Sonographic findings in otocephaly (synotia). ( 3925160 )
1985
38
An anatomical study of human otocephaly. ( 6495221 )
1984
39
Anatomy of the Canine Skull in Low-grade Otocephaly. ( 17649505 )
1964
40
LOW-GRADE OTOCEPHALY IN A DOG. ( 14042920 )
1963
41
On the Genetics of Subnormal Development of the Head (Otocephaly) in the Guinea Pig. ( 17246734 )
1934
42
Rudimentary Otocephaly. ( 17104005 )
1924

Variations for Agnathia-Otocephaly Complex

UniProtKB/Swiss-Prot genetic disease variations for Agnathia-Otocephaly Complex:

75
# Symbol AA change Variation ID SNP ID
1 PRRX1 p.Phe113Ser VAR_066414 rs387906667

ClinVar genetic disease variations for Agnathia-Otocephaly Complex:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRRX1 NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser) single nucleotide variant Pathogenic rs387906667 GRCh37 Chromosome 1, 170688963: 170688963
2 PRRX1 NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser) single nucleotide variant Pathogenic rs387906667 GRCh38 Chromosome 1, 170719822: 170719822
3 PRRX1 PRRX1, ALA231PRO single nucleotide variant Pathogenic
4 PRRX1 NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs) deletion Pathogenic rs398122375 GRCh37 Chromosome 1, 170688894: 170688894
5 PRRX1 NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs) deletion Pathogenic rs398122375 GRCh38 Chromosome 1, 170719753: 170719753
6 PRRX1 NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs) duplication Pathogenic rs398122376 GRCh37 Chromosome 1, 170688891: 170688894
7 PRRX1 NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs) duplication Pathogenic rs398122376 GRCh38 Chromosome 1, 170719750: 170719753

Expression for Agnathia-Otocephaly Complex

Search GEO for disease gene expression data for Agnathia-Otocephaly Complex.

Pathways for Agnathia-Otocephaly Complex

GO Terms for Agnathia-Otocephaly Complex

Biological processes related to Agnathia-Otocephaly Complex according to GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.94 BMP4 FGF8 GLI2 SHH
2 BMP signaling pathway GO:0030509 9.91 BMP4 FGF8 MSX1 NODAL
3 cartilage development GO:0051216 9.9 BMP4 MSX1 PRRX1
4 determination of left/right symmetry GO:0007368 9.9 FGF8 NODAL SHH
5 roof of mouth development GO:0060021 9.9 MSX1 PRRX1 SHH
6 inner ear morphogenesis GO:0042472 9.9 FGF8 OTX1 PRRX1
7 cell development GO:0048468 9.89 BMP4 NODAL SHH
8 embryonic skeletal system morphogenesis GO:0048704 9.88 ALX3 BMP4 PRRX1
9 smoothened signaling pathway GO:0007224 9.88 BMP4 GLI2 HHAT SHH
10 positive regulation of cell differentiation GO:0045597 9.87 BMP4 FGF8 SHH
11 pattern specification process GO:0007389 9.87 ALX3 CRKL GLI2 SHH
12 cell fate commitment GO:0045165 9.86 BMP4 FGF8 NODAL SHH
13 branching involved in ureteric bud morphogenesis GO:0001658 9.85 BMP4 FGF8 SHH
14 metanephros development GO:0001656 9.84 BMP4 FGF8 SHH
15 protein localization to nucleus GO:0034504 9.84 BMP4 MSX1 SHH
16 heart looping GO:0001947 9.84 FGF8 LBX1 NODAL SHH
17 embryonic forelimb morphogenesis GO:0035115 9.83 ALX3 MSX1 SHH
18 neuron fate commitment GO:0048663 9.83 BMP4 LBX1 SHH
19 pituitary gland development GO:0021983 9.83 BMP4 GLI2 MSX1
20 embryonic digit morphogenesis GO:0042733 9.83 BMP4 GLI2 MSX1 SHH
21 branching morphogenesis of an epithelial tube GO:0048754 9.81 BMP4 GLI2 SHH
22 vasculature development GO:0001944 9.81 BMP4 NODAL SHH
23 odontogenesis of dentin-containing tooth GO:0042475 9.81 BMP4 GLI2 MSX1 SHH
24 dopaminergic neuron differentiation GO:0071542 9.8 FGF8 OTX2 SHH
25 embryonic pattern specification GO:0009880 9.8 NODAL PGAP1 SHH
26 embryonic limb morphogenesis GO:0030326 9.8 BMP4 MSX1 PRRX1 SHH
27 lung development GO:0030324 9.8 BMP4 FGF8 GLI2 NODAL SHH
28 heart development GO:0007507 9.8 BMP4 CRKL FGF8 GLI2 MSX1 NODAL
29 lung morphogenesis GO:0060425 9.79 BMP4 FGF8 SHH
30 spinal cord motor neuron differentiation GO:0021522 9.79 GLI2 LBX1 SHH
31 midbrain development GO:0030901 9.78 MSX1 OTX1 OTX2 SHH
32 anterior/posterior axis specification GO:0009948 9.77 BMP4 NODAL PGAP1
33 branching involved in blood vessel morphogenesis GO:0001569 9.76 FGF8 SHH
34 outflow tract septum morphogenesis GO:0003148 9.76 BMP4 FGF8
35 anatomical structure development GO:0048856 9.76 GLI2 SHH
36 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 PRRX1 SHH
37 thyroid gland development GO:0030878 9.76 FGF8 SHH
38 regulation of smoothened signaling pathway GO:0008589 9.76 GLI2 OTX2
39 renal system development GO:0072001 9.76 BMP4 SHH
40 hindbrain development GO:0030902 9.76 GLI2 SHH
41 embryonic heart tube development GO:0035050 9.76 FGF8 NODAL
42 dorsal/ventral neural tube patterning GO:0021904 9.76 BMP4 GLI2 SHH
43 embryonic cranial skeleton morphogenesis GO:0048701 9.76 ALX3 BMP4 NODAL PRRX1
44 middle ear morphogenesis GO:0042474 9.75 MSX1 PRRX1
45 signal transduction involved in regulation of gene expression GO:0023019 9.75 FGF8 MSX1
46 male genitalia development GO:0030539 9.75 FGF8 SHH
47 osteoblast development GO:0002076 9.75 GLI2 SHH
48 head development GO:0060322 9.75 GLI2 PGAP1
49 negative regulation of chondrocyte differentiation GO:0032331 9.75 BMP4 GLI2
50 epithelial tube branching involved in lung morphogenesis GO:0060441 9.75 BMP4 SHH

Molecular functions related to Agnathia-Otocephaly Complex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 ALX3 GLI2 LBX1 MSX1 OTX1 OTX2
2 sequence-specific DNA binding GO:0043565 9.17 ALX3 GLI2 LBX1 MSX1 OTX1 OTX2
3 morphogen activity GO:0016015 8.96 NODAL SHH

Sources for Agnathia-Otocephaly Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....