MCID: 46X003
MIFTS: 48

46,xx Testicular Disorder of Sex Development malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for 46,xx Testicular Disorder of Sex Development

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Sources:
45NIH Rare Diseases, 22GeneTests, 51Orphanet, 23Genetics Home Reference, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for 46,xx Testicular Disorder of Sex Development:

Name: 46,xx Testicular Disorder of Sex Development 45 22 23 51 24
46,xx Testicular Dsd 45 22 51
Xx Male Syndrome 45 22 23
46,xx Gonadal Dysgenesis 45 51
Xx Sex Reversal 45 23
Follicular Stimulating Hormone-Resistant Ovaries 51
46, Xx Testicular Disorders of Sex Development 65
Xx Testicular Disorder of Sex Development 22
Hypergonadotropic Ovarian Dysgenesis 51
46,xx Complete Gonadal Dysgenesis 51
 
46,xx Pure Gonadal Dysgenesis 51
Xx Female Gonadal Dysgenesis 51
46, Xx Gonadal Sex Reversal 45
46,xx Ovarian Dysgenesis 51
De La Chapelle Syndrome 51
46,xx Male Syndrome 22
46,xx Sex Reversal 23
Xx, Male Syndrome 51
Fsh-Ro 51
Xx-Gd 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
46,xx gonadal dysgenesis:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy
46,xx testicular disorder of sex development:
Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet51 243, 393
ICD10 via Orphanet28 Q99.1
MESH via Orphanet37 D023961, D058531
UMLS via Orphanet66 C0685837, C0949595, C0432475 C2936419, more

Summaries for 46,xx Testicular Disorder of Sex Development

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NIH Rare Diseases:45 46,xx testicular disorder of sex development is a condition in which a person with two x chromosomes (which is normally found in females) has a male appearance. more specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. less often, affected people may experience abnormalities such as undescended testes and hypospadias. gender role and gender identity are normally reported as male. this condition may occur if the sry gene (which is usually found on the y chromosome) is misplaced onto the x chromosome. this generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). less commonly, the condition may be due to copy number variants or rearrangements in or around the sox9 or sox3 gene. in some affected people, the underlying cause is unknown. in most cases, the condition occurs sporadically in people with no family history of the condition. treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy. last updated: 11/3/2015

MalaCards based summary: 46,xx Testicular Disorder of Sex Development, also known as 46,xx testicular dsd, is related to gonadal dysgenesis and sry-negative 46,xx testicular disorder of sex development, and has symptoms including decreased fertility, polycystic ovaries and primary amenorrhea. An important gene associated with 46,xx Testicular Disorder of Sex Development is BMP15 (Bone Morphogenetic Protein 15), and among its related pathways are Ovarian steroidogenesis and Ovarian Infertility Genes. Affiliated tissues include testes, ovary and lung, and related mouse phenotypes are cellular and homeostasis/metabolism.

Genetics Home Reference:23 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity.

Related Diseases for 46,xx Testicular Disorder of Sex Development

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Diseases related to 46,xx Testicular Disorder of Sex Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis30.6FSHR, NR5A1, SOX9, SRY
2sry-negative 46,xx testicular disorder of sex development10.7
3sry-positive 46,xx testicular disorder of sex development10.7
4nonsyndromic 46,xx testicular disorders of sex development10.7
546,xx gonadal dysgenesis epibulbar dermoid10.6
6lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.6
7palmoplantar keratoderma - xx sex reversal - predisposition to squamous cell carcinoma10.6
8serkal syndrome10.5
9growth hormone deficiency10.5
1046xx sex reversal 110.4
11ovarian dysgenesis 110.4
1246 xx gonadal dysgenesis10.4
13metabolic acidosis10.4
14ovarian dysgenesis 210.3
15premature ovarian failure 110.3
16cryptorchidism10.3
1746 xy gonadal dysgenesis10.3
18azoospermia10.2
19hermaphroditism10.2
20osteitis fibrosa10.2BMP15, SRY
21nodular neuronal heterotopia10.2SOX9, SRY
22adenosquamous cell lung carcinoma10.1BMP15, SRY
23third ventricle chordoid glioma10.1SOX9, SRY
24total septate uterus10.1BMP15, PSMC3IP
25testicular granulosa cell tumor10.1SOX9, SRY
26herpes simplex10.1SOX9, SRY
27nasal cavity inverting papilloma10.1SOX9, SRY
28moebius syndrome10.1SOX9, SRY
29delayed sleep phase syndrome10.0SOX9, SRY
30actg2-related disorders10.0NR5A1, SRY
31anorectal atresia10.0NR5A1, SRY
32ovarian embryonal carcinoma9.9BMP15, FSHR
33angular blepharoconjunctivitis9.9BMP15, FSHR
34pigmented paravenous retinochoroidal atrophy9.8NR5A1, SOX9, SRY
35chronic closed-angle glaucoma9.8NR5A1, SOX9, SRY
36swyer-james syndrome9.8NR5A1, SOX9, SRY
37frasier syndrome9.8NR5A1, SOX9, SRY
38alternating hemiplegia of childhood9.8NR5A1, SOX9, SRY
39nephrogenic adenoma9.8NR5A1, SOX9, SRY
40wilms tumor susceptibility-59.8NR5A1, SOX9, SRY
41female urethral cancer9.7BMP15, FSHR, NR5A1
42fabry disease9.7BMP15, FSHR, NR5A1
43sex differentiation disease9.6FSHR, NR5A1
44white piedra9.6BMP15, FSHR, NR5A1, SRY
45respiratory failure9.6BMP15, FSHR, NR5A1, SRY
46gonococcal seminal vesiculitis9.2BMP15, FSHR, NR5A1, PSMC3IP, SOX9, SRY
4748,xxxy syndrome8.9BMP15, FSHR, NR5A1, PSMC3IP, ROCK1, SOX3

Graphical network of the top 20 diseases related to 46,xx Testicular Disorder of Sex Development:



Diseases related to 46,xx testicular disorder of sex development

Symptoms for 46,xx Testicular Disorder of Sex Development

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Symptoms:

 51 (show all 18)
  • abnormal/polycystic ovaries
  • sterility/hypofertility
  • late puberty/hypogonadism/hypogenitalism
  • primary amenorrhea
  • autosomal dominant inheritance
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • microcephaly
  • hearing loss/hypoacusia/deafness
  • long hand/arachnodactyly
  • lung fibrosis
  • precocious menopause/secondary amenorrhea
  • ataxia/incoordination/trouble of the equilibrium
  • metabolic anomalies
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • short stature/dwarfism/nanism
  • ambiguous genitalia
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia

HPO human phenotypes related to 46,xx Testicular Disorder of Sex Development:

(show all 14)
id Description Frequency HPO Source Accession
1 decreased fertility hallmark (90%) HP:0000144
2 polycystic ovaries hallmark (90%) HP:0000147
3 primary amenorrhea hallmark (90%) HP:0000786
4 abnormality of the testis hallmark (90%) HP:0000035
5 ambiguous genitalia hallmark (90%) HP:0000062
6 reduced bone mineral density typical (50%) HP:0004349
7 microcephaly occasional (7.5%) HP:0000252
8 hearing impairment occasional (7.5%) HP:0000365
9 secondary amenorrhea occasional (7.5%) HP:0000869
10 arachnodactyly occasional (7.5%) HP:0001166
11 abnormality of metabolism/homeostasis occasional (7.5%) HP:0001939
12 pulmonary fibrosis occasional (7.5%) HP:0002206
13 incoordination occasional (7.5%) HP:0002311
14 short stature occasional (7.5%) HP:0004322

Drugs & Therapeutics for 46,xx Testicular Disorder of Sex Development

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Drugs for 46,xx Testicular Disorder of Sex Development (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Epinephrineapproved76851-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenaclick
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
Auvi-q
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine bitartrate
Epinephrine chloride
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr
Epipen Jr.
Epipen Jr. Auto-Injector
Epipen jr
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
 
Esphygmogenina
Exadrin
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
Primatene Mist Refill
Prime Asthma Relief
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
2Racepinephrine768
3Epinephryl borate768

Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Study of Patients With Excess AndrogenEnrolling by invitationNCT00250159

Search NIH Clinical Center for 46,xx Testicular Disorder of Sex Development

Genetic Tests for 46,xx Testicular Disorder of Sex Development

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Genetic tests related to 46,xx Testicular Disorder of Sex Development:

id Genetic test Affiliating Genes
1 46,xx Testicular Disorder of Sex Development22 24 SRY

Anatomical Context for 46,xx Testicular Disorder of Sex Development

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MalaCards organs/tissues related to 46,xx Testicular Disorder of Sex Development:

33
Testes, Ovary, Lung, Testis, Bone

Animal Models for 46,xx Testicular Disorder of Sex Development or affiliated genes

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MGI Mouse Phenotypes related to 46,xx Testicular Disorder of Sex Development:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.3FSHR, NR5A1, PSMC3IP, ROCK1, SOX3, SOX9
2MP:00053767.1FSHR, NR5A1, PSMC3IP, ROCK1, SOX3, SOX9
3MP:00053796.9BMP15, FSHR, NR5A1, PSMC3IP, SOX3, SOX9
4MP:00053896.6BMP15, FSHR, NR5A1, PSMC3IP, SOX3, SOX9

Publications for 46,xx Testicular Disorder of Sex Development

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Articles related to 46,xx Testicular Disorder of Sex Development:

idTitleAuthorsYear
1
A duplication upstream of SOX9 was not positively correlated with the SRYa89negative 46,XX testicular disorder of sex development: A case report and literature review. (26260363)
2015
2
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. (25077096)
2014
3
Gene expression profile during testicular development in patients With SRY-negative 46,XX testicular disorder of sex development. (24149105)
2013
4
Two males with SRY-positive 46,XX testicular disorder of sex development. (23110663)
2013
5
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. (20082466)
2010
6
46,XX Testicular Disorder of Sex Development (20301589)
1993

Variations for 46,xx Testicular Disorder of Sex Development

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Clinvar genetic disease variations for 46,xx Testicular Disorder of Sex Development:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1BMP15NM_005448.2(BMP15): c.704A> G (p.Tyr235Cys)single nucleotide variantPathogenicrs104894765GRCh37Chr X, 50659132: 50659132
2FSHRNM_000145.3(FSHR): c.566C> T (p.Ala189Val)single nucleotide variantPathogenicrs121909658GRCh37Chr 2, 49210264: 49210264
3FSHRNM_000145.3(FSHR): c.479T> C (p.Ile160Thr)single nucleotide variantPathogenicrs121909659GRCh37Chr 2, 49216161: 49216161
4FSHRNM_000145.3(FSHR): c.1717C> T (p.Arg573Cys)single nucleotide variantPathogenicrs121909660GRCh37Chr 2, 49190243: 49190243
5FSHRNM_000145.3(FSHR): c.1255G> A (p.Ala419Thr)single nucleotide variantPathogenicrs121909661GRCh37Chr 2, 49190705: 49190705
6FSHRNM_000145.3(FSHR): c.1555C> A (p.Pro519Thr)single nucleotide variantPathogenicrs121909662GRCh37Chr 2, 49190405: 49190405
7SOX9SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGIONundetermined variantPathogenic
8SOX9SOX9, 148-KB DUP, UPSTREAM REGULATORY REGIONduplicationPathogenic
9FSHRNM_000145.3(FSHR): c.1760C> A (p.Pro587His)single nucleotide variantLikely pathogenic, Pathogenicrs386833512GRCh37Chr 2, 49190200: 49190200
10SOX9SOX9, 178-KB DUP, UPSTREAM REGULATORY REGIONduplicationPathogenic
11PSMC3IPPSMC3IP, 3-BP DEL, 600GAGdeletionPathogenic
12FSHRNM_000145.3(FSHR): c.1043C> G (p.Pro348Arg)single nucleotide variantLikely pathogenicrs386833510GRCh37Chr 2, 49190917: 49190917
13FSHRNM_000145.3(FSHR): c.1724C> T (p.Ala575Val)single nucleotide variantLikely pathogenicrs386833511GRCh37Chr 2, 49190236: 49190236
14FSHRNM_000145.3(FSHR): c.1801C> G (p.Leu601Val)single nucleotide variantLikely pathogenicrs386833513GRCh37Chr 2, 49190159: 49190159
15FSHRNM_000145.3(FSHR): c.662T> G (p.Val221Gly)single nucleotide variantLikely pathogenicrs386833514GRCh37Chr 2, 49210057: 49210057
16FSHRNM_000145.3(FSHR): c.671A> T (p.Asp224Val)single nucleotide variantLikely pathogenicrs386833515GRCh37Chr 2, 49196020: 49196020

Expression for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Search GEO for disease gene expression data for 46,xx Testicular Disorder of Sex Development.

Pathways for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Pathways related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6BMP15, FSHR
29.3FSHR, NR5A1
3
Show member pathways
9.1FSHR, ROCK1, SOX9
4
Wnt signaling pathway (KEGG)
Show member pathways
9.0FSHR, ROCK1, SOX9
58.8SOX3, SOX9, SRY

GO Terms for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Cellular components related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:00447989.6SOX9, SRY

Biological processes related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of MAPK cascadeGO:00434089.9BMP15, FSHR
2positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.8FSHR, SOX9
3ovarian follicle developmentGO:00015419.8BMP15, FSHR
4regulation of cell adhesionGO:00301559.8ROCK1, SOX9
5sex determinationGO:00075309.7SOX3, SRY
6female gamete generationGO:00072929.7BMP15, FSHR
7female gonad developmentGO:00085859.7FSHR, NR5A1
8hormone-mediated signaling pathwayGO:00097559.6FSHR, NR5A1
9male sex determinationGO:00302389.5SOX9, SRY
10Sertoli cell developmentGO:00600099.3FSHR, SOX9
11positive regulation of male gonad developmentGO:20000209.0NR5A1, SOX9, SRY
12male gonad developmentGO:00085848.5FSHR, NR5A1, SOX9, SRY

Molecular functions related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region sequence-specific DNA bindingGO:000097610.0NR5A1, SOX9
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.5NR5A1, SOX9, SRY
3transcription factor activity, sequence-specific DNA bindingGO:00037008.2NR5A1, SOX3, SOX9, SRY
4DNA bindingGO:00036777.5NR5A1, PSMC3IP, SOX3, SOX9, SRY

Sources for 46,xx Testicular Disorder of Sex Development

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet