PVHH
MCID: PRL023
MIFTS: 42

Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (PVHH)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

MalaCards integrated aliases for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

Name: Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 57 74 37 29 6
Encephaloclastic Proliferative Vasculopathy 57 59 74 72
Fowler Syndrome 57 59 74 72
Hydrocephaly/hydranencephaly Due to Cerebral Vasculopathy 57 59 74
Cerebral Proliferative Glomeruloid Vasculopathy 59 74
Fowler Christmas Chapple Syndrome 53 72
Pvhh 57 74
Epv 57 74
Proliferative Vasculopathy and Hydranencephaly/hydrocephaly 59
Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome 59
Polycystic Ovaries Urethral Sphincter Dysfunction 53
Encephaloclastic Proliferative Vasculopathy; Epv 57
Voiding Dysfunction and Polycystic Ovaries 53
Fowler-Christmas-Chapple Syndrome 59
Hydranencephaly, Fowler Type 57
Hydranencephaly Fowler Type 74
Fowler's Syndrome 53
Pgv 74

Characteristics:

Orphanet epidemiological data:

59
fowler syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or neonatal death
diagnosis occurs between 23 and 33 weeks' gestation
variable clinical presentation
affected individuals may rarely survive


HPO:

32
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 225790
KEGG 37 H01120
MeSH 44 D006832
UMLS via Orphanet 73 C1856972 C2931462 C3203738
MedGen 42 C1856972
UMLS 72 C1856972 C2931462 C3203738

Summaries for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

OMIM : 57 The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016). (225790)

MalaCards based summary : Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome, also known as encephaloclastic proliferative vasculopathy, is related to hydranencephaly and fetal akinesia deformation sequence 1. An important gene associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome is FLVCR2 (Feline Leukemia Virus Subgroup C Cellular Receptor Family Member 2). The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include ovary, brain and spinal cord, and related phenotypes are emg abnormality and polycystic ovaries

NIH Rare Diseases : 53 Fowler's syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.

KEGG : 37
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels leading to hydranencephaly. Mutations and a large deletion in the FLVCR2 gene have been revealed in the families with Fowler syndrome. FLVCR2 encodes a transmembrane transporter of the major facilitator superfamily (MFS) hypothesized to be involved in regulation of growth, calcium exchange, and homeostasis.

UniProtKB/Swiss-Prot : 74 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome: A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue.

Related Diseases for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Diseases related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 hydranencephaly 10.5
2 fetal akinesia deformation sequence 1 10.4
3 autosomal recessive disease 10.4
4 duodenal ulcer 10.3
5 vaccinia 10.3
6 polycystic ovary syndrome 10.2
7 hydrocephalus 10.2
8 cystic lymphangioma 10.2
9 congenital hydrocephalus 10.2
10 acute cystitis 10.1
11 hydrocephalus, congenital, 1 10.1
12 alkuraya-kucinskas syndrome 10.1
13 congenital amyoplasia 10.1
14 cardiomyopathy, familial hypertrophic, 2 10.0
15 pain agnosia 10.0
16 cystitis 10.0
17 endometriosis 10.0
18 ovarian cyst 10.0
19 infertility 10.0
20 chronic pain 10.0
21 dysautonomia 10.0
22 rare surgical neurologic disease 10.0
23 cleft palate, isolated 10.0
24 hypertelorism 10.0
25 multiple pterygium syndrome, escobar variant 10.0

Graphical network of the top 20 diseases related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:



Diseases related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome

Symptoms & Phenotypes for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Human phenotypes related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
2 polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0000147
3 abnormality of the urethra 59 32 frequent (33%) Frequent (79-30%) HP:0000795
4 dysuria 59 32 frequent (33%) Frequent (79-30%) HP:0100518
5 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
6 urinary retention 59 32 occasional (7.5%) Occasional (29-5%) HP:0000016
7 oligomenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000876
8 hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001007
9 urinary incontinence 59 32 very rare (1%) Very rare (<4-1%) HP:0000020
10 menorrhagia 59 32 very rare (1%) Very rare (<4-1%) HP:0000132
11 amenorrhea 59 32 very rare (1%) Very rare (<4-1%) HP:0000141
12 agenesis of corpus callosum 32 HP:0001274
13 hydrocephalus 32 HP:0000238
14 seizures 32 HP:0001250
15 global developmental delay 32 HP:0001263
16 microcephaly 32 HP:0000252
17 flexion contracture 32 HP:0001371
18 abnormality of metabolism/homeostasis 32 HP:0001939
19 micrognathia 32 HP:0000347
20 abnormality of the ovary 59 Very rare (<4-1%)
21 intrauterine growth retardation 32 HP:0001511
22 cerebellar hypoplasia 32 HP:0001321
23 polyhydramnios 32 HP:0001561
24 dandy-walker malformation 32 HP:0001305
25 premature birth 32 HP:0001622
26 hydranencephaly 32 HP:0002324
27 akinesia 32 HP:0002304
28 hypoplasia of the brainstem 32 HP:0002365

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ventriculomegaly
cerebellar hypoplasia
dandy-walker malformation
hydranencephaly
more
Head And Neck Face:
micrognathia

Prenatal Manifestations Delivery:
premature delivery

Prenatal Manifestations:
prenatal diagnosis by ultrasound

Head And Neck Eyes:
glomeruloid vascular proliferation in the retina central visual impairment

Head And Neck Head:
microcephaly

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
joint contractures
fetal akinesia deformation sequence
limb deformities

Growth Other:
intrauterine growth retardation (iugr)

Muscle Soft Tissue:
muscular atrophy, neurogenic

Clinical features from OMIM:

225790

Drugs & Therapeutics for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Drugs for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Neurotransmitter Agents Phase 2, Phase 3
3 abobotulinumtoxinA Phase 2, Phase 3
4 Neuromuscular Agents Phase 2, Phase 3
5 Cholinergic Agents Phase 2, Phase 3
6 Peripheral Nervous System Agents Phase 2, Phase 3
7 Acetylcholine Release Inhibitors Phase 2, Phase 3
8 Botulinum Toxins Phase 2, Phase 3
9 incobotulinumtoxinA Phase 2, Phase 3
10 Botulinum Toxins, Type A Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Pilot Study to Treat Women With Chronic Urinary Retention or Voiding Dysfunction Due to a Primary Disorder of Sphincter Relaxation (Fowler's Syndrome) With Outpatient Urethral Injections of Botulinum Toxin A (BoNT-A) Completed NCT02428881 Phase 2, Phase 3 onabotulinumtoxinA
2 Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy Completed NCT03293134

Search NIH Clinical Center for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome

Genetic Tests for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Genetic tests related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

# Genetic test Affiliating Genes
1 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 29 FLVCR2

Anatomical Context for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

MalaCards organs/tissues related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

41
Ovary, Brain, Spinal Cord, Retina, Endothelial, Cerebellum

Publications for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Articles related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

(show all 22)
# Title Authors PMID Year
1
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. 38 8 71
25677735 2016
2
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. 38 8 71
20690116 2010
3
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. 38 8 71
20518025 2010
4
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 38 8 71
20206334 2010
5
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. 38 8 71
19635601 2009
6
Fowler syndrome-a clinical, radiological, and pathological study of 14 cases. 38 8
20014121 2010
7
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. 8
11857548 2002
8
Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings. 8
6852387 1983
9
Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: a new disease. 8
4555262 1972
10
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. 38
29541808 2018
11
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. 38
29500860 2018
12
Urogenital Symptoms in Neurologic Patients. 38
28375917 2017
13
Heme and FLVCR-related transporter families SLC48 and SLC49. 38
23506900 2013
14
Sacral neuromodulation with an implantable pulse generator in children with lower urinary tract symptoms: 15-year experience. 38
22902022 2012
15
Revisiting Mendelian disorders through exome sequencing. 38
21331778 2011
16
The Fowler syndrome-associated protein FLVCR2 is an importer of heme. 38
20823265 2010
17
Fowler syndrome presenting as a Dandy-Walker malformation: a second case report. 38
18702566 2009
18
A case of recurrent first-trimester Fowler syndrome. 38
17454483 2007
19
Early ultrasonographic changes in Fowler syndrome features and review of the literature. 38
16231307 2005
20
Re: First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). 38
12704756 2003
21
Urinary retention after hysterectomy for benign disease: extended diagnostic evaluation and treatment with sacral nerve stimulation. 38
12656902 2003
22
First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). 38
12493052 2002

Variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

ClinVar genetic disease variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

6 (show all 45)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FLVCR2 NM_017791.3(FLVCR2): c.1289C> T (p.Thr430Met) single nucleotide variant Pathogenic rs267606825 14:76107351-76107351 14:75641008-75641008
2 FLVCR2 NM_017791.3(FLVCR2): c.1289C> G (p.Thr430Arg) single nucleotide variant Pathogenic rs267606825 14:76107351-76107351 14:75641008-75641008
3 FLVCR2 NM_017791.3(FLVCR2): c.1192C> G (p.Leu398Val) single nucleotide variant Pathogenic rs267606822 14:76105762-76105762 14:75639419-75639419
4 FLVCR2 NM_017791.3(FLVCR2): c.473C> A (p.Ser158Ter) single nucleotide variant Pathogenic rs138495705 14:76045788-76045788 14:75579445-75579445
5 FLVCR2 NM_017791.3(FLVCR2): c.977C> T (p.Ala326Val) single nucleotide variant Pathogenic rs267606824 14:76099996-76099996 14:75633653-75633653
6 FLVCR2 NM_017791.3(FLVCR2): c.1341+2T> C single nucleotide variant Pathogenic rs780523767 14:76107405-76107405 14:75641062-75641062
7 FLVCR2 NM_017791.3(FLVCR2): c.402C> G (p.Tyr134Ter) single nucleotide variant Pathogenic rs759296326 14:76045717-76045717 14:75579374-75579374
8 FLVCR2 NM_017791.3(FLVCR2): c.839C> G (p.Pro280Arg) single nucleotide variant Uncertain significance rs267606823 14:76090982-76090982 14:75624639-75624639
9 FLVCR2 NM_017791.2(FLVCR2): c.329_334delACATCT (p.Asn110_Phe112delinsIle) deletion Uncertain significance rs746459536 14:76045644-76045649 14:75579301-75579306
10 FLVCR2 NM_017791.3(FLVCR2): c.421G> A (p.Val141Met) single nucleotide variant Uncertain significance rs193042691 14:76045736-76045736 14:75579393-75579393
11 FLVCR2 NM_017791.3(FLVCR2): c.953-15C> T single nucleotide variant Uncertain significance rs188707531 14:76099957-76099957 14:75633614-75633614
12 FLVCR2 NM_017791.3(FLVCR2): c.*18C> T single nucleotide variant Uncertain significance rs369026585 14:76112833-76112833 14:75646490-75646490
13 FLVCR2 NM_017791.3(FLVCR2): c.*573C> T single nucleotide variant Uncertain significance rs116699854 14:76113388-76113388 14:75647045-75647045
14 FLVCR2 NM_017791.3(FLVCR2): c.*1085T> G single nucleotide variant Uncertain significance rs886050790 14:76113900-76113900 14:75647557-75647557
15 FLVCR2 NM_017791.3(FLVCR2): c.*1413_*1414GT[9] short repeat Uncertain significance rs138622317 14:76114242-76114243 14:75647899-75647900
16 FLVCR2 NM_017791.3(FLVCR2): c.905C> A (p.Ala302Asp) single nucleotide variant Uncertain significance rs183200579 14:76091048-76091048 14:75624705-75624705
17 FLVCR2 NM_017791.3(FLVCR2): c.947C> G (p.Thr316Ser) single nucleotide variant Uncertain significance rs779117746 14:76091090-76091090 14:75624747-75624747
18 FLVCR2 NM_017791.3(FLVCR2): c.1326C> T (p.Leu442=) single nucleotide variant Uncertain significance rs886050787 14:76107388-76107388 14:75641045-75641045
19 FLVCR2 NM_017791.3(FLVCR2): c.*756A> G single nucleotide variant Uncertain significance rs78654241 14:76113571-76113571 14:75647228-75647228
20 FLVCR2 NM_017791.3(FLVCR2): c.164C> T (p.Pro55Leu) single nucleotide variant Uncertain significance rs372243784 14:76045479-76045479 14:75579136-75579136
21 FLVCR2 NM_017791.3(FLVCR2): c.*379T> C single nucleotide variant Uncertain significance rs886050789 14:76113194-76113194 14:75646851-75646851
22 FLVCR2 NM_017791.3(FLVCR2): c.*734del deletion Uncertain significance rs538801836 14:76113549-76113549 14:75647206-75647206
23 FLVCR2 NM_017791.3(FLVCR2): c.*1588A> C single nucleotide variant Uncertain significance rs764448107 14:76114403-76114403 14:75648060-75648060
24 FLVCR2 NM_017791.3(FLVCR2): c.*517C> T single nucleotide variant Uncertain significance rs188459017 14:76113332-76113332 14:75646989-75646989
25 FLVCR2 NM_017791.3(FLVCR2): c.1474C> T (p.Arg492Trp) single nucleotide variant Uncertain significance rs139495418 14:76108206-76108206 14:75641863-75641863
26 FLVCR2 NM_017791.3(FLVCR2): c.286A> G (p.Met96Val) single nucleotide variant Uncertain significance rs199805789 14:76045601-76045601 14:75579258-75579258
27 FLVCR2 NM_017791.3(FLVCR2): c.78C> A (p.Ser26Arg) single nucleotide variant Uncertain significance rs768707435 14:76045393-76045393 14:75579050-75579050
28 FLVCR2 NM_017791.3(FLVCR2): c.-111T> C single nucleotide variant Uncertain significance rs80001297 14:76045205-76045205 14:75578862-75578862
29 FLVCR2 NM_017791.3(FLVCR2): c.*187T> C single nucleotide variant Uncertain significance rs75002047 14:76113002-76113002 14:75646659-75646659
30 FLVCR2 NM_017791.3(FLVCR2): c.*155C> T single nucleotide variant Uncertain significance rs562468033 14:76112970-76112970 14:75646627-75646627
31 FLVCR2 NM_017791.3(FLVCR2): c.*98T> C single nucleotide variant Uncertain significance rs886050788 14:76112913-76112913 14:75646570-75646570
32 FLVCR2 NM_017791.3(FLVCR2): c.604G> A (p.Ala202Thr) single nucleotide variant Uncertain significance rs886050786 14:76045919-76045919 14:75579576-75579576
33 FLVCR2 NM_017791.3(FLVCR2): c.*1633A> C single nucleotide variant Uncertain significance rs552943781 14:76114448-76114448 14:75648105-75648105
34 FLVCR2 NM_017791.3(FLVCR2): c.*1411_*1412del deletion Uncertain significance rs764857255 14:76114226-76114227 14:75647883-75647884
35 FLVCR2 NM_017791.3(FLVCR2): c.*1040C> T single nucleotide variant Likely benign rs8017131 14:76113855-76113855 14:75647512-75647512
36 FLVCR2 NM_017791.3(FLVCR2): c.-71C> T single nucleotide variant Likely benign rs11849590 14:76045245-76045245 14:75578902-75578902
37 FLVCR2 NM_017791.3(FLVCR2): c.1441G> A (p.Ala481Thr) single nucleotide variant Likely benign rs35126362 14:76107624-76107624 14:75641281-75641281
38 FLVCR2 NM_017791.3(FLVCR2): c.*1098C> A single nucleotide variant Likely benign rs8017287 14:76113913-76113913 14:75647570-75647570
39 FLVCR2 NM_017791.3(FLVCR2): c.376C> T (p.Leu126=) single nucleotide variant Benign/Likely benign rs8011292 14:76045691-76045691 14:75579348-75579348
40 FLVCR2 NM_017791.3(FLVCR2): c.47T> C (p.Val16Ala) single nucleotide variant Benign rs2287015 14:76045362-76045362 14:75579019-75579019
41 FLVCR2 NM_017791.3(FLVCR2): c.543G> A (p.Val181=) single nucleotide variant Benign rs2287016 14:76045858-76045858 14:75579515-75579515
42 FLVCR2 NM_017791.3(FLVCR2): c.648C> G (p.Ser216=) single nucleotide variant Benign rs2287017 14:76045963-76045963 14:75579620-75579620
43 FLVCR2 NM_017791.3(FLVCR2): c.-121_-120CT[1] short repeat Benign rs1322268460 14:76045197-76045198 14:75578854-75578855
44 FLVCR2 NM_017791.2(FLVCR2): c.-356G> C single nucleotide variant Benign rs3813550 14:76044960-76044960 14:75578617-75578617
45 FLVCR2 NM_017791.3(FLVCR2): c.-96T> C single nucleotide variant Benign rs11845734 14:76045220-76045220 14:75578877-75578877

UniProtKB/Swiss-Prot genetic disease variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 FLVCR2 p.Pro280Arg VAR_064043 rs267606823
2 FLVCR2 p.Leu398Val VAR_064044 rs267606822
3 FLVCR2 p.Thr430Arg VAR_064045 rs267606825
4 FLVCR2 p.Arg84His VAR_064410
5 FLVCR2 p.Ala326Val VAR_064412 rs267606824
6 FLVCR2 p.Thr352Arg VAR_064413
7 FLVCR2 p.Gly412Arg VAR_064414
8 FLVCR2 p.Thr430Met VAR_064415 rs267606825

Expression for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Search GEO for disease gene expression data for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome.

Pathways for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

GO Terms for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Sources for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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34 ICD10 via Orphanet
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44 MeSH
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64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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