Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRL023 MIFTS: 32	Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Fetal diseases, Cardiovascular diseases
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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 ⁷⁵ ³⁷ ²⁹ ⁶

Encephaloclastic Proliferative Vasculopathy ⁵⁷ ⁵⁹ ⁷⁵ ⁷³

Fowler Syndrome ⁵⁷ ⁵⁹ ⁷⁵ ⁷³

Hydrocephaly/hydranencephaly Due to Cerebral Vasculopathy ⁵⁷ ⁵⁹ ⁷⁵

Cerebral Proliferative Glomeruloid Vasculopathy ⁵⁹ ⁷⁵

Fowler Christmas Chapple Syndrome ⁵³ ⁷³

Pvhh ⁵⁷ ⁷⁵

Epv ⁵⁷ ⁷⁵

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 ⁷⁵

Fowler's Syndrome ⁵³

Pgv ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

polycystic ovaries-urethral sphincter dysfunction syndrome
Prevalence: <1/1000000 (Worldwide);

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Reproductive diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Rare gynaecological and obstetric diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 225790

Orphanet ⁵⁹ ORPHA2795 ORPHA221126

UMLS via Orphanet ⁷⁴ C2931462 C1856972 C3203738

MedGen ⁴² C1856972

MeSH ⁴⁴ D006832

KEGG ³⁷ H01120

UMLS ⁷³ C1856972 C3203738 C2931462

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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. An important gene associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome is FLVCR2 (Feline Leukemia Virus Subgroup C Cellular Receptor Family Member 2). Affiliated tissues include ovary, spinal cord and retina, and related phenotypes are polycystic ovaries and abnormality of the urethra

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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.

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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:

#	Related Disease	Score
1	hydranencephaly	10.4
2	fetal akinesia deformation sequence	10.1
3	urethritis	10.0

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

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

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

⁵⁹ ³² (show all 24)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	polycystic ovaries ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000147
2	abnormality of the urethra ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000795
3	emg abnormality ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003457
4	dysuria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100518
5	urinary retention ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000016
6	oligomenorrhea ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000876
7	hirsutism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001007
8	acne ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001061
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	abnormality of the ovary ⁵⁹		Very rare (<4-1%)
13	hydrocephalus ³²			HP:0000238
14	micrognathia ³²			HP:0000347
15	agenesis of corpus callosum ³²			HP:0001274
16	dandy-walker malformation ³²			HP:0001305
17	cerebellar hypoplasia ³²			HP:0001321
18	flexion contracture ³²			HP:0001371
19	intrauterine growth retardation ³²			HP:0001511
20	polyhydramnios ³²			HP:0001561
21	premature birth ³²			HP:0001622
22	abnormality of metabolism/homeostasis ³²			HP:0001939
23	hydranencephaly ³²			HP:0002324
24	hypoplasia of the brainstem ³²			HP:0002365

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

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

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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

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

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

⁴¹

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

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Publications for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Articles related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

#	Title	Authors	Year
1	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. ( 29500860 )	Radio F.C....Dallapiccola B.	2018
2	Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). ( 20206334 )	Meyer E....Maher E.R.	2010

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Genes for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Genes related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FLVCR2	Feline Leukemia Virus Subgroup C Cellular Receptor Family Member 2	Protein Coding	1703.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20206334 20518025 20690116 (more) 25677735
2	LOC102724153	Uncharacterized LOC102724153	RNA Gene	9.69	GeneCards inferred via : Variants (show sections)

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Variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

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

⁷⁵

#	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

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

⁶

(show top 50) (show all 82)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FLVCR2	NM_017791.2(FLVCR2): c.1289C> G (p.Thr430Arg)	single nucleotide variant	Pathogenic	rs267606825	GRCh37	Chromosome 14, 76107351: 76107351
2	FLVCR2	NM_017791.2(FLVCR2): c.1289C> G (p.Thr430Arg)	single nucleotide variant	Pathogenic	rs267606825	GRCh38	Chromosome 14, 75641008: 75641008
3	FLVCR2	NM_017791.2(FLVCR2): c.329_334del (p.Asn110_Phe112delinsIle)	deletion	Pathogenic		GRCh37	Chromosome 14, 76045644: 76045649
4	FLVCR2	NM_017791.2(FLVCR2): c.329_334del (p.Asn110_Phe112delinsIle)	deletion	Pathogenic		GRCh38	Chromosome 14, 75579301: 75579306
5	FLVCR2	NM_017791.2(FLVCR2): c.1192C> G (p.Leu398Val)	single nucleotide variant	Pathogenic	rs267606822	GRCh37	Chromosome 14, 76105762: 76105762
6	FLVCR2	NM_017791.2(FLVCR2): c.1192C> G (p.Leu398Val)	single nucleotide variant	Pathogenic	rs267606822	GRCh38	Chromosome 14, 75639419: 75639419
7	FLVCR2	NM_017791.2(FLVCR2): c.473C> A (p.Ser158Ter)	single nucleotide variant	Pathogenic	rs138495705	GRCh37	Chromosome 14, 76045788: 76045788
8	FLVCR2	NM_017791.2(FLVCR2): c.473C> A (p.Ser158Ter)	single nucleotide variant	Pathogenic	rs138495705	GRCh38	Chromosome 14, 75579445: 75579445
9	FLVCR2	NM_017791.2(FLVCR2): c.977C> T (p.Ala326Val)	single nucleotide variant	Pathogenic	rs267606824	GRCh37	Chromosome 14, 76099996: 76099996
10	FLVCR2	NM_017791.2(FLVCR2): c.977C> T (p.Ala326Val)	single nucleotide variant	Pathogenic	rs267606824	GRCh38	Chromosome 14, 75633653: 75633653
11	FLVCR2	NM_017791.2(FLVCR2): c.1341+2T> C	single nucleotide variant	Pathogenic	rs780523767	GRCh38	Chromosome 14, 75641062: 75641062
12	FLVCR2	NM_017791.2(FLVCR2): c.1341+2T> C	single nucleotide variant	Pathogenic	rs780523767	GRCh37	Chromosome 14, 76107405: 76107405
13	FLVCR2	NM_017791.2(FLVCR2): c.402C> G (p.Tyr134Ter)	single nucleotide variant	Pathogenic	rs759296326	GRCh38	Chromosome 14, 75579374: 75579374
14	FLVCR2	NM_017791.2(FLVCR2): c.402C> G (p.Tyr134Ter)	single nucleotide variant	Pathogenic	rs759296326	GRCh37	Chromosome 14, 76045717: 76045717
15	FLVCR2	NM_017791.2(FLVCR2): c.421G> A (p.Val141Met)	single nucleotide variant	Uncertain significance	rs193042691	GRCh38	Chromosome 14, 75579393: 75579393
16	FLVCR2	NM_017791.2(FLVCR2): c.421G> A (p.Val141Met)	single nucleotide variant	Uncertain significance	rs193042691	GRCh37	Chromosome 14, 76045736: 76045736
17	FLVCR2	NM_017791.2(FLVCR2): c.953-15C> T	single nucleotide variant	Uncertain significance	rs188707531	GRCh38	Chromosome 14, 75633614: 75633614
18	FLVCR2	NM_017791.2(FLVCR2): c.953-15C> T	single nucleotide variant	Uncertain significance	rs188707531	GRCh37	Chromosome 14, 76099957: 76099957
19	FLVCR2	NM_017791.2(FLVCR2): c.*18C> T	single nucleotide variant	Uncertain significance	rs369026585	GRCh38	Chromosome 14, 75646490: 75646490
20	FLVCR2	NM_017791.2(FLVCR2): c.*18C> T	single nucleotide variant	Uncertain significance	rs369026585	GRCh37	Chromosome 14, 76112833: 76112833
21	FLVCR2	NM_017791.2(FLVCR2): c.*573C> T	single nucleotide variant	Uncertain significance	rs116699854	GRCh38	Chromosome 14, 75647045: 75647045
22	FLVCR2	NM_017791.2(FLVCR2): c.*573C> T	single nucleotide variant	Uncertain significance	rs116699854	GRCh37	Chromosome 14, 76113388: 76113388
23	FLVCR2	NM_017791.2(FLVCR2): c.*1085T> G	single nucleotide variant	Uncertain significance	rs886050790	GRCh38	Chromosome 14, 75647557: 75647557
24	FLVCR2	NM_017791.2(FLVCR2): c.*1085T> G	single nucleotide variant	Uncertain significance	rs886050790	GRCh37	Chromosome 14, 76113900: 76113900
25	FLVCR2	NM_017791.2(FLVCR2): c.1427_1428dupGT	duplication	Uncertain significance	rs886050791	GRCh38	Chromosome 14, 75647899: 75647900
26	FLVCR2	NM_017791.2(FLVCR2): c.1427_1428dupGT	duplication	Uncertain significance	rs886050791	GRCh37	Chromosome 14, 76114242: 76114243
27	FLVCR2	NM_017791.2(FLVCR2): c.905C> A (p.Ala302Asp)	single nucleotide variant	Uncertain significance	rs183200579	GRCh38	Chromosome 14, 75624705: 75624705
28	FLVCR2	NM_017791.2(FLVCR2): c.905C> A (p.Ala302Asp)	single nucleotide variant	Uncertain significance	rs183200579	GRCh37	Chromosome 14, 76091048: 76091048
29	FLVCR2	NM_017791.2(FLVCR2): c.947C> G (p.Thr316Ser)	single nucleotide variant	Uncertain significance	rs779117746	GRCh38	Chromosome 14, 75624747: 75624747
30	FLVCR2	NM_017791.2(FLVCR2): c.947C> G (p.Thr316Ser)	single nucleotide variant	Uncertain significance	rs779117746	GRCh37	Chromosome 14, 76091090: 76091090
31	FLVCR2	NM_017791.2(FLVCR2): c.1326C> T (p.Leu442=)	single nucleotide variant	Uncertain significance	rs886050787	GRCh38	Chromosome 14, 75641045: 75641045
32	FLVCR2	NM_017791.2(FLVCR2): c.1326C> T (p.Leu442=)	single nucleotide variant	Uncertain significance	rs886050787	GRCh37	Chromosome 14, 76107388: 76107388
33	FLVCR2	NM_017791.2(FLVCR2): c.*756A> G	single nucleotide variant	Uncertain significance	rs78654241	GRCh38	Chromosome 14, 75647228: 75647228
34	FLVCR2	NM_017791.2(FLVCR2): c.*756A> G	single nucleotide variant	Uncertain significance	rs78654241	GRCh37	Chromosome 14, 76113571: 76113571
35	FLVCR2	NM_017791.2(FLVCR2): c.*1633A> C	single nucleotide variant	Uncertain significance	rs552943781	GRCh38	Chromosome 14, 75648105: 75648105
36	FLVCR2	NM_017791.2(FLVCR2): c.*1633A> C	single nucleotide variant	Uncertain significance	rs552943781	GRCh37	Chromosome 14, 76114448: 76114448
37	FLVCR2	NM_017791.2(FLVCR2): c.-356G> C	single nucleotide variant	Benign	rs3813550	GRCh38	Chromosome 14, 75578617: 75578617
38	FLVCR2	NM_017791.2(FLVCR2): c.-356G> C	single nucleotide variant	Benign	rs3813550	GRCh37	Chromosome 14, 76044960: 76044960
39	FLVCR2	NM_017791.2(FLVCR2): c.329_334delACATCT (p.Asn110_Phe112delinsIle)	deletion	Uncertain significance	rs746459536	GRCh38	Chromosome 14, 75579301: 75579306
40	FLVCR2	NM_017791.2(FLVCR2): c.329_334delACATCT (p.Asn110_Phe112delinsIle)	deletion	Uncertain significance	rs746459536	GRCh37	Chromosome 14, 76045644: 76045649
41	FLVCR2	NM_017791.2(FLVCR2): c.1441G> A (p.Ala481Thr)	single nucleotide variant	Likely benign	rs35126362	GRCh38	Chromosome 14, 75641281: 75641281
42	FLVCR2	NM_017791.2(FLVCR2): c.1441G> A (p.Ala481Thr)	single nucleotide variant	Likely benign	rs35126362	GRCh37	Chromosome 14, 76107624: 76107624
43	FLVCR2	NM_017791.2(FLVCR2): c.1474C> T (p.Arg492Trp)	single nucleotide variant	Uncertain significance	rs139495418	GRCh38	Chromosome 14, 75641863: 75641863
44	FLVCR2	NM_017791.2(FLVCR2): c.1474C> T (p.Arg492Trp)	single nucleotide variant	Uncertain significance	rs139495418	GRCh37	Chromosome 14, 76108206: 76108206
45	FLVCR2	NM_017791.2(FLVCR2): c.*517C> T	single nucleotide variant	Uncertain significance	rs188459017	GRCh38	Chromosome 14, 75646989: 75646989
46	FLVCR2	NM_017791.2(FLVCR2): c.*517C> T	single nucleotide variant	Uncertain significance	rs188459017	GRCh37	Chromosome 14, 76113332: 76113332
47	FLVCR2	NM_017791.2(FLVCR2): c.*1098C> A	single nucleotide variant	Likely benign	rs8017287	GRCh38	Chromosome 14, 75647570: 75647570
48	FLVCR2	NM_017791.2(FLVCR2): c.*1098C> A	single nucleotide variant	Likely benign	rs8017287	GRCh37	Chromosome 14, 76113913: 76113913
49	FLVCR2	NM_017791.2(FLVCR2): c.*1588A> C	single nucleotide variant	Uncertain significance	rs764448107	GRCh38	Chromosome 14, 75648060: 75648060
50	FLVCR2	NM_017791.2(FLVCR2): c.*1588A> C	single nucleotide variant	Uncertain significance	rs764448107	GRCh37	Chromosome 14, 76114403: 76114403

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Expression for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

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

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Pathways for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

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

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