MCID: CNT097
MIFTS: 57

Central Hypoventilation Syndrome, Congenital

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases

Aliases & Classifications for Central Hypoventilation Syndrome, Congenital

MalaCards integrated aliases for Central Hypoventilation Syndrome, Congenital:

Name: Central Hypoventilation Syndrome, Congenital 54 71 52
Congenital Central Hypoventilation Syndrome 12 23 50 24 25 71 14
Cchs 12 50 24 25 56 71
Haddad Syndrome 54 25 56 29
Ondine Curse 12 24 56 71
Congenital Central Alveolar Hypoventilation Syndrome 12 56 69
Congenital Failure of Autonomic Control 50 25 71
Congenital Central Hypoventilation 25 29 69
Ondine Syndrome 12 25 56
Central Congenital Hypoventilation Syndrome 12 56
Central Hypoventilation Syndrome 54 13
Ondine-Hirschsprung Disease 25 56
Hypoventilation 42 69
Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 54
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome 56
Idiopathic Congenital Central Alveolar Hypoventilation 50
Central Alveolar Hypoventilation Syndrome 69
Sleep-Related Respiratory Failure 69
Primary Alveolar Hypoventilation 50
Cchs with Hirschsprung Disease 69
Ondine-Hirschsprung Syndrome 56
Congenital Ondine Curse 50
Central Hypoventilation 29
Sleep Apnea, Central 69

Characteristics:

Orphanet epidemiological data:

56
ondine syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
haddad syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset usually at birth
worsening of symptoms during sleep
some patients have later onset of the disorder as young adults
patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system
hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion
most cases are caused by mutation in the phox2b gene


HPO:

32
central hypoventilation syndrome, congenital:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance for the phox2b polyalanine repeat expansion mutation appears to be high. amiel et al [2003], sasaki et al [2003], weese-mayer et al [2003], matera et al [2004], and berry-kravis et al [2006] found no controls with a phox2b polyalanine repeat expansion mutation...

Classifications:



Summaries for Central Hypoventilation Syndrome, Congenital

OMIM : 54
Idiopathic congenital central hypoventilation syndrome, also known as 'Ondine's curse' (Deonna et al., 1974), is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. Patients breathe normally while awake, but hypoventilate with normal respiratory rates and shallow breathing during sleep; more severely affected patients hypoventilate both awake and asleep. These patients typically present in the first hours of life with cyanosis and increased carbon dioxide during sleep. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999). Congenital central hypoventilation syndrome has been associated with several disorders classified as neurocristopathies, that is, aberrant phenotypes arising from a defect of migration or differentiation of neural crest cells. These include neuroblastoma (Haddad et al., 1978), ganglioneuroma (Swaminathan et al., 1989), and most frequently Hirschsprung disease (HSCR) which appears in 16% of CCHS patients. The association of CCHS and HSCR is referred to as Haddad syndrome. Congenital central hypoventilation can be a feature of other developmental disorders, such as those caused by mutation in the MECP2 gene (300005). (209880)

MalaCards based summary : Central Hypoventilation Syndrome, Congenital, also known as congenital central hypoventilation syndrome, is related to perry syndrome and athabaskan brainstem dysgenesis syndrome, and has symptoms including failure to thrive, strabismus and cognitive impairment. An important gene associated with Central Hypoventilation Syndrome, Congenital is PHOX2B (Paired Like Homeobox 2b), and among its related pathways/superpathways are Neural Crest Differentiation and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Desogestrel and Contraceptive Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and skin, and related phenotypes are shRNA abundance <= 50% and behavior/neurological

NIH Rare Diseases : 50 congenital central hypoventilation syndrome (cchs) is a disorder of the autonomic nervous system that affects breathing. it causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. symptoms usually begin shortly after birth. affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). cchs is caused by a mutation in the phox2b gene and is inherited in an autosomal dominant manner. however, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. last updated: 1/12/2016

UniProtKB/Swiss-Prot : 71 Congenital central hypoventilation syndrome: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.

Genetics Home Reference : 25 Congenital central hypoventilation syndrome (CCHS) is a disorder that affects breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Ordinarily, the part of the nervous system that controls involuntary body processes (autonomic nervous system) would react to such an imbalance by stimulating the individual to breathe more deeply or wake up. This reaction is impaired in people with CCHS, and they must be supported with a machine to help them breathe (mechanical ventilation) or a device that stimulates a normal breathing pattern (diaphragm pacemaker). Some affected individuals need this support 24 hours a day, while others need it only at night.

Disease Ontology : 12 An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has material basis in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.

Wikipedia : 72 Central hypoventilation syndrome (CHS) is a respiratory disorder that results in respiratory arrest... more...

GeneReviews: NBK1427

Related Diseases for Central Hypoventilation Syndrome, Congenital

Diseases related to Central Hypoventilation Syndrome, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
id Related Disease Score Top Affiliating Genes
1 perry syndrome 11.3
2 athabaskan brainstem dysgenesis syndrome 11.2
3 rohhad 10.9
4 encephalopathy, neonatal severe 10.9
5 megalocytic interstitial nephritis 10.7 GDNF RET
6 wallerian degeneration 10.6 EDN3 EDNRB
7 endotheliitis 10.6 BDNF TH
8 psychologic vaginismus 10.5 BDNF GDNF
9 diabetes mellitus, noninsulin-dependent, 5 10.5 EDN3 EDNRB RET
10 postmenopausal atrophic vaginitis 10.5 BDNF PHOX2B TH
11 cystadenoma 10.5 BDNF PHOX2B TH
12 hypogonadotropic hypogonadism without anosmia, x-linked 10.5 GDNF RET TH
13 sweat gland cancer 10.4 EDNRB GDNF RET
14 biliary papillomatosis 10.4 EDN3 EDNRB
15 medullary thyroid carcinoma, familial 10.4 EDNRB GDNF RET
16 tyrosinemia 10.3 EDN3 EDNRB RET
17 endometriosis of ovary 10.3 PHOX2A PHOX2B
18 prostate carcinoma in situ 10.3 BDNF GDNF TH
19 hemopericardium 10.3 ASCL1 EDNRB PHOX2A PHOX2B
20 paralytic ileus 10.3 EDN3 EDNRB GDNF RET
21 pheochromocytoma 10.2 ASCL1 GDNF RET TH
22 spinal meningioma 10.1 EDN3 EDNRB GDNF PHOX2B RET
23 shprintzen-goldberg syndrome 10.1 ASCL1 EDN3 EDNRB GDNF RET
24 sudden infant death syndrome 10.0
25 anterior spinal artery syndrome 9.9
26 wolffian duct adenocarcinoma 9.9 ASCL1 EDN3 EDNRB GDNF PHOX2B RET
27 neuroblastoma 9.9
28 sleep apnea 9.9
29 cerebritis 9.9
30 myasthenic syndrome, congenital, 21, presynaptic 9.9 ASCL1 EDN3 EDNRB GDNF PHOX2B RET
31 hepatic angiomyolipoma 9.9 BDNF GDNF TH
32 hypoglycemia 9.8
33 autonomic dysfunction 9.8
34 central sleep apnea 9.8
35 encephalitis 9.8
36 western equine encephalitis 9.8
37 atrial fibrillation, familial, 10 9.6 ASCL1 BDNF PHOX2A PHOX2B TH TLX3
38 hirschsprung disease 1 4.2 ASCL1 BDNF DBX1 EDN3 EDNRB GDNF

Graphical network of the top 20 diseases related to Central Hypoventilation Syndrome, Congenital:



Diseases related to Central Hypoventilation Syndrome, Congenital

Symptoms & Phenotypes for Central Hypoventilation Syndrome, Congenital

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
poor feeding
constipation
hirschsprung disease (16%)

Metabolic Features:
poor temperature regulation
decreased basal body temperature

Respiratory:
alveolar hypoventilation
shallow breathing (decreased tidal volume)
normal respiratory rate
periods of apnea
abnormal respiration due to defect in autonomic function
more
Neurologic- Central Nervous System:
dysfunction of the autonomic nervous system

Neoplasia:
neuroblastoma
ganglioneuroma
tumors of the sympathetic nervous system (5 to 10%)
ganglioneuroblastoma

Head And Neck- Eyes:
diminished pupillary light responses

Skin Nails & Hair- Skin:
increased sweating

Laboratory- Abnormalities:
chronic hypoxemia
chronic hypercapnia


Clinical features from OMIM:

209880

Human phenotypes related to Central Hypoventilation Syndrome, Congenital:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 strabismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000486
3 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
4 seizures 56 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001250
5 polyhydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001561
6 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
7 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
8 respiratory insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002093
9 oligohydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001562
10 decreased fetal movement 56 32 occasional (7.5%) Occasional (29-5%) HP:0001558
11 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001252
12 neuroblastoma 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003006
13 small for gestational age 56 32 hallmark (90%) Very frequent (99-80%) HP:0001518
14 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
15 dysautonomia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002459
16 breathing dysregulation 56 32 hallmark (90%) Very frequent (99-80%) HP:0005957
17 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002251
18 ganglioneuroma 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003005
19 ganglioneuroblastoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0006747
20 autonomic dysregulation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002271
21 central hypoventilation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007110
22 central sleep apnea 56 32 hallmark (90%) Very frequent (99-80%) HP:0010536
23 low-set ears 32 HP:0000369
24 posteriorly rotated ears 32 HP:0000358
25 constipation 32 HP:0002019
26 feeding difficulties 32 HP:0011968
27 downslanted palpebral fissures 32 HP:0000494
28 death in infancy 56 Frequent (79-30%)
29 hyperhidrosis 32 HP:0000975
30 abnormality of the cardiovascular system 32 HP:0001626
31 abnormality of temperature regulation 32 HP:0004370
32 abnormality of the mouth 32 HP:0000153
33 neoplasm of the central nervous system 56 Occasional (29-5%)
34 abnormality of the autonomic nervous system 56 Very frequent (99-80%)

UMLS symptoms related to Central Hypoventilation Syndrome, Congenital:


constipation, increased sweating, cheyne-stokes respiration, coughing, dyspnea, hemoptysis, hoarseness, signs and symptoms, respiratory, shallow breathing, paradoxical respiration, hyperoxia

GenomeRNAi Phenotypes related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 GPR4 KCNK5 PHOX2A PHOX2B PMPCA RET

MGI Mouse Phenotypes related to Central Hypoventilation Syndrome, Congenital:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ASCL1 BDNF DBX1 EDN3 EDNRB GDNF
2 growth/size/body region MP:0005378 10.17 ASCL1 BDNF DBX1 EDNRB GDNF KCNK5
3 mortality/aging MP:0010768 10.16 GPR4 KCNK5 MARK3 MYO1H PHOX2A PHOX2B
4 nervous system MP:0003631 10 EDNRB GDNF GPR4 KCNK5 PHOX2A PHOX2B
5 digestive/alimentary MP:0005381 9.91 BDNF EDN3 EDNRB GDNF RET TLX2
6 no phenotypic analysis MP:0003012 9.56 MARK3 PHOX2A RET TH ASCL1 BDNF
7 respiratory system MP:0005388 9.36 ASCL1 BDNF DBX1 EDNRB GPR4 KCNK5

Drugs & Therapeutics for Central Hypoventilation Syndrome, Congenital

Drugs for Central Hypoventilation Syndrome, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desogestrel Approved Phase 2, Phase 3 54024-22-5 40973
2 Contraceptive Agents Phase 2, Phase 3
3 Contraceptives, Oral Phase 2, Phase 3
4 Hormone Antagonists Phase 2, Phase 3
5 Hormones Phase 2, Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
7 Progestins Phase 2, Phase 3
8
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
9
Ethinyl Estradiol Approved 57-63-6 5991
10 Contraceptives, Oral, Combined
11 Estradiol 17 beta-cypionate
12 Estradiol 3-benzoate
13 Estradiol valerate 979-32-8
14 Polyestradiol phosphate

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Assessment of Desogestrel in Ondine Syndrome Completed NCT01243697 Phase 2, Phase 3 desogestrel
2 PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood Unknown status NCT00652964
3 Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome Unknown status NCT01500473 Desogestrel
4 Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene Completed NCT01225679
5 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020
6 Evaluation of the Awakening Capability by a Vibrating Bracelet (BRASSARD) Recruiting NCT03053011
7 European Home Mechanical Ventilation Registry Terminated NCT02315339

Search NIH Clinical Center for Central Hypoventilation Syndrome, Congenital

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypoventilation

Genetic Tests for Central Hypoventilation Syndrome, Congenital

Genetic tests related to Central Hypoventilation Syndrome, Congenital:

id Genetic test Affiliating Genes
1 Congenital Central Hypoventilation 29
2 Haddad Syndrome 29
3 Central Hypoventilation 29
4 Congenital Central Hypoventilation Syndrome 24 PHOX2B BDNF ASCL1 EDN3 GDNF

Anatomical Context for Central Hypoventilation Syndrome, Congenital

MalaCards organs/tissues related to Central Hypoventilation Syndrome, Congenital:

39
Lung, Heart, Skin, Brain, Eye

Publications for Central Hypoventilation Syndrome, Congenital

Variations for Central Hypoventilation Syndrome, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Central Hypoventilation Syndrome, Congenital:

71
id Symbol AA change Variation ID SNP ID
1 BDNF p.Thr2Ile VAR_018260 rs8192466
2 PHOX2B p.Arg141Gln VAR_046900
3 PHOX2B p.Gln143Arg VAR_046901
4 RET p.Arg67His VAR_018153 rs192489011
5 RET p.Arg114His VAR_018154 rs76397662
6 RET p.Ala432Glu VAR_018155 rs552057730
7 RET p.Pro1039Leu VAR_018157 rs79853121

ClinVar genetic disease variations for Central Hypoventilation Syndrome, Congenital:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 PHOX2B NP_003915.2: p.Ala260(5_9) NT expansion Pathogenic
2 PHOX2B NM_003924.3(PHOX2B): c.618dupC (p.Ser207Glnfs) duplication Pathogenic rs587776626 GRCh37 Chromosome 4, 41748151: 41748151
3 PHOX2B PHOX2B, 37-BP DEL, NT722 deletion Pathogenic
4 GDNF NM_000514.3(GDNF): c.277C> T (p.Arg93Trp) single nucleotide variant risk factor rs36119840 GRCh37 Chromosome 5, 37816112: 37816112
5 EDN3 EDN3, 1-BP INS insertion Pathogenic
6 BDNF NM_170731.4(BDNF): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic rs8192466 GRCh37 Chromosome 11, 27680107: 27680107
7 ASCL1 NM_004316.3(ASCL1): c.52C> A (p.Pro18Thr) single nucleotide variant Pathogenic rs267606667 GRCh37 Chromosome 12, 103352074: 103352074
8 ASCL1 ASCL1, 15-BP DEL, NT111 deletion Pathogenic
9 ASCL1 ASCL1, 24-BP DEL, NT108 deletion Pathogenic
10 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh37 Chromosome 9, 139313082: 139313082
11 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847

Expression for Central Hypoventilation Syndrome, Congenital

Search GEO for disease gene expression data for Central Hypoventilation Syndrome, Congenital.

Pathways for Central Hypoventilation Syndrome, Congenital

Pathways related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.44 ASCL1 PHOX2B TLX2
2 11.38 ASCL1 BDNF PHOX2A PHOX2B RET TH
3 11.16 ASCL1 BDNF GDNF TH
4 10.81 ASCL1 RET TH

GO Terms for Central Hypoventilation Syndrome, Congenital

Biological processes related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.93 ASCL1 BDNF EDNRB GDNF RET
2 regulation of gene expression GO:0010468 9.8 ASCL1 EDN3 GDNF PHOX2B
3 neuron migration GO:0001764 9.73 ASCL1 PHOX2B TLX3
4 negative regulation of neuron differentiation GO:0045665 9.65 ASCL1 PHOX2B TLX3
5 neuron differentiation GO:0030182 9.65 ASCL1 EDN3 PHOX2B RET TLX3
6 peripheral nervous system development GO:0007422 9.61 EDNRB GDNF
7 dopaminergic neuron differentiation GO:0071542 9.6 PHOX2A PHOX2B
8 response to pain GO:0048265 9.59 EDNRB RET
9 melanocyte differentiation GO:0030318 9.58 EDN3 EDNRB
10 vasoconstriction GO:0042310 9.58 EDN3 EDNRB
11 glial cell differentiation GO:0010001 9.57 ASCL1 PHOX2B
12 neuron fate specification GO:0048665 9.55 ASCL1 TLX3
13 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.52 PHOX2B TLX3
14 sympathetic ganglion development GO:0061549 9.51 ASCL1 PHOX2B
15 noradrenergic neuron differentiation GO:0003357 9.46 PHOX2A PHOX2B
16 neural crest cell migration GO:0001755 9.46 EDN3 EDNRB GDNF RET
17 vein smooth muscle contraction GO:0014826 9.43 EDN3 EDNRB
18 noradrenergic neuron development GO:0003358 9.4 ASCL1 PHOX2B
19 posterior midgut development GO:0007497 9.37 EDNRB RET
20 parasympathetic nervous system development GO:0048486 9.32 PHOX2A PHOX2B
21 sympathetic nervous system development GO:0048485 9.26 ASCL1 GDNF PHOX2A PHOX2B
22 enteric nervous system development GO:0048484 9.02 EDNRB GDNF PHOX2B RET TLX2

Molecular functions related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.1 ASCL1 DBX1 PHOX2A PHOX2B TLX2 TLX3

Sources for Central Hypoventilation Syndrome, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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