OCR
MCID: OCL005
MIFTS: 73

Oculocerebrorenal Syndrome (OCR) malady

Neuronal diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Fetal diseases categories

Summaries for Oculocerebrorenal Syndrome

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.

MalaCards: Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to dent's disease and aminoaciduria, and has symptoms including delayed dentition/eruption of teeth/lack of eruption of teeth, multiple caries and dentine anomaly. An important gene associated with Oculocerebrorenal Syndrome is OCRL (oculocerebrorenal syndrome of Lowe), and among its related pathways are Synthesis of PIPs at the early endosome membrane and Rho GTPase cycle. The compounds inositol 1,3,4,5-tetrakisphosphate and inositol 1,4,5 trisphosphate have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and brain, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

Wikipedia:63 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

Description from OMIM:46 309000

GeneReviews summary for lowe

Aliases & Classifications for Oculocerebrorenal Syndrome

About this section
Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
lowe syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

oculocerebrorenal syndrome 8 19 42 21 10 48 60
lowe syndrome 8 9 19 42 20 22 21 46 44 48
oculocerebrorenal syndrome of lowe 8 19 21
lowe oculocerebrorenal syndrome 8 42 21
ocrl 42 48
phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency 42
phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency 21
phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency 48
lowe oculo-cerebro-renal syndrome 48
chromosome 11p deletion syndrome 60
oculo-cerebro-renal dystrophy 48
oculo-cerebro-renal syndrome 48
oculocerebrorenal dystrophy 48
cerebrooculorenal syndrome 21
lowe disease 48
ocrl1 42
ocr 48


External Ids:

Disease Ontology8 DOID:1056
OMIM46 309000
NCIt39 C84940
SNOMED-CT56 79385002
MeSH34 D009800
ICD10 via Orphanet26 E72.0
SNOMED-CT via Orphanet57 79385002

Related Diseases for Oculocerebrorenal Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Oculocerebrorenal Syndrome:



Diseases related to oculocerebrorenal syndrome

Clinical Features for Oculocerebrorenal Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

309000

Clinical synopsis from OMIM:

309000

Symptoms:

48 (show all 122)
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • multiple caries
  • dentine anomaly
  • enamel anomaly
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • dental cysts/tumors
  • alveolysis/paraodontitis
  • chronic/relapsing otitis
  • rib structure anomalies
  • kyphosis
  • platyspondyly
  • inguinal/inguinoscrotal/crural hernia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • anodontia/oligodontia/hypodontia
  • taurodontia
  • retinal/chorioretinal dysplasia/dystrophy
  • strabismus/squint
  • defect/anomaly of lacrimal system
  • thin/retracted lips
  • protruding lips
  • mouth held open
  • long philtrum
  • philtrum deeply grooved
  • oral mucosa disease/cheilitis
  • gingivitis
  • high vaulted/narrow palate
  • anomalies of teeth and dentition
  • umbilical hernia
  • genu valgum
  • abnormal scarring/cheloids/hypertrophic scars
  • late puberty/hypogonadism/hypogenitalism
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • metaphyseal anomaly
  • epiphyseal anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • patella dislocation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • anaemia
  • hypoammonemia
  • hypophosphatemia
  • oligosacchariduria
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • hyperaldosteronism
  • diabetes insipidus
  • chronic skin infection/ulcerations/ulcers/cancrum
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • malabsorption/chronic diarrhea/steatorrhea
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • atelectasia/pulmonary collapse
  • repeat respiratory infections
  • polycystic kidneys
  • renal/kidney calcifications/nephrocalcinosis
  • hematuria/microhematuria
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • azoospermia/oligospermia/asthenospermia
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • corneal clouding/opacity/vascularisation
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • aminoacid metabolism anomalies/aminoaciduria
  • x-linked recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death in adulthood
  • dehydration/hydroelectrolytic loss
  • frontal bossing/prominent forehead
  • broad cheeks/cherub-like/cherubin face
  • long face
  • deepset eyes/enophthalmos
  • glaucoma
  • buphthalmos
  • low set ears/posteriorly rotated ears
  • prominent/bat ears
  • hypercalciuria
  • hyponatremia
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • nystagmus
  • abnormal cry/voice/phonation disorder/nasal speech
  • renal glomerular defect/glomerulopathy
  • renal tubular defect/tubulopathy
  • renal failure
  • proteinuria
  • tics/stereotypias
  • hypotonia
  • areflexia/hyporeflexia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • scoliosis
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • hydrarthrosis/articular/joint effusion
  • arthritis/synovitis/synovial proliferation
  • hyperextensible joints/articular hyperlaxity
  • thrombocytopenia/thrombopenia
  • metabolic decompensation
  • hypokalemia
  • phosphocalcic metabolism anomalies
  • vitamin d deficiency
  • benign tumor of the brain/nervous system
  • brachycephaly/flat occiput
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • prognathism/prognathia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • dental malocclusion
  • mutiple fractures/bone fragility
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • skin tumors/lumps/epidermal cysts
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • constipation
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hyperparathyroidy
  • dilated cerebral ventricles without hydrocephaly
  • eeg anomalies
  • myoclonus/fasciculations
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperactivity/attention deficit
  • obsessive-compulsive disorder
  • auto-aggressivity/auto-mutilation
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia

Drugs & Therapeutics for Oculocerebrorenal Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Oculocerebrorenal Syndrome

Drug clinical trials:

Search ClinicalTrials for Oculocerebrorenal Syndrome

Search NIH Clinical Center for Oculocerebrorenal Syndrome

Search CenterWatch for Oculocerebrorenal Syndrome

Genetic Tests for Oculocerebrorenal Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Oculocerebrorenal Syndrome:

id Genetic test Affiliating Genes
1 Lowe Syndrome20 22 OCRL

Anatomical Context for Oculocerebrorenal Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Oculocerebrorenal Syndrome:

32
Kidney, Eye, Brain, Skin, Testes, Lung, Bone

Animal Models for Oculocerebrorenal Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Oculocerebrorenal Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3ARHGAP1, PI4K2A, OCRL, GRB2, CLCN5, INPP5B
2MP:00053767.7PI4K2A, OCRL, GRB2, CLCN5, INPP5K, INPPL1
3MP:00053787.1ASPM, ARHGAP1, PI4K2A, SYNJ1, OCRL, GRB2
4MP:00107686.2ARHGAP1, PI4K2A, SYNJ1, OCRL, GRB2, INPP5A

Publications for Oculocerebrorenal Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Oculocerebrorenal Syndrome:

(show all 49)
idTitleAuthorsYear
1
Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. (24217083)
2013
2
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. (23805271)
2013
3
Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe. (23549725)
2013
4
Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. (22351770)
2012
5
Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies. (19217010)
2009
6
Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life. (19547830)
2009
7
Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. (17621522)
2007
8
Glaucoma with the oculocerebrorenal syndrome of Lowe. (15870597)
2005
9
What's your diagnosis? Oculocerebrorenal syndrome of Lowe. (16250214)
2005
10
Cataracts and glaucoma in patients with oculocerebrorenal syndrome. (12963605)
2003
11
Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. (10767176)
2000
12
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (9632163)
1998
13
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (9199559)
1997
14
Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation. (9116424)
1997
15
MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. (8703232)
1996
16
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. (7869519)
1995
17
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. (8599350)
1995
18
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. (7573041)
1995
19
Lesions in oculocerebrorenal syndrome. (7847233)
1994
20
Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. (7516514)
1994
21
MR findings in oculocerebrorenal syndrome. (8456727)
1993
22
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (8504307)
1993
23
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. (8488875)
1993
24
The oculocerebrorenal syndrome of Lowe. (8325732)
1993
25
Radiological cases of the month. Lowe (oculocerebrorenal) syndrome. (1384308)
1992
26
Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. (1594319)
1992
27
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. (1321346)
1992
28
The oculocerebrorenal syndrome of Lowe. (1927708)
1991
29
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. (2017228)
1991
30
Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state. (2028753)
1991
31
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. (1897526)
1991
32
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. (2081601)
1990
33
Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. (2912070)
1989
34
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. (2895982)
1988
35
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. (2878939)
1987
36
Oculocerebrorenal syndrome: case report with CT and MR correlates. (3111218)
1987
37
Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome. (3958170)
1986
38
Mitochondrial defects in Lowe's oculocerebrorenal syndrome. (6691827)
1984
39
Arthropathy of Lowe's (oculocerebrorenal) syndrome. (6860374)
1983
40
A new variant of Lowe oculocerebrorenal syndrome. (7256724)
1980
41
Renal transport of amino acids in children with oculocerebrorenal syndrome. (669970)
1978
42
Haematological studies in a case of oculocerebrorenal syndrome. (856773)
1977
43
Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe. (953206)
1976
44
Nutritional investigations in the oculocerebrorenal syndrome of Lowe. (4480430)
1974
45
Oculocerebrorenal syndrome. (Lowe syndrome). (4639225)
1972
46
Renal function and morphology in a girl with oculocerebrorenal syndrome. (5450274)
1970
47
Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. (5763831)
1969
48
Oculocerebrorenal syndrome of Lowe. A case report. (6022734)
1967
49
Oculocerebrorenal syndrome in a female child. (4951545)
1967

Genetic Variations for Oculocerebrorenal Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Expression for genes affiliated with Oculocerebrorenal Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Oculocerebrorenal Syndrome

Search GEO for disease gene expression data for Oculocerebrorenal Syndrome.

Pathways for genes affiliated with Oculocerebrorenal Syndrome

About this section
Sources:
53Reactome, 4Cell Signaling Technology, 37NCBI BioSystems Database, 29KEGG
See all sources

Pathways related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0OCRL, PI4K2A
2
Hide members
9.7INPP5B, OCRL, ARHGAP1
39.7OCRL, INPPL1, INPP5D
49.7INPPL1, GRB2
59.3INPP5D, INPPL1, GRB2
6
Hide members
9.3GRB2, INPPL1, INPP5D
7
Hide members
9.2INPP5K, INPPL1, INPP5D, INPP5J, INPP5E
8
Hide members
9.1OCRL, SYNJ1, SYNJ2, PI4K2A
9
Hide members
8.1INPP5A, INPP5K, INPPL1, INPP5B, INPP5D, INPP5J
10
Hide members
8.0SYNJ1, OCRL, INPP5A, INPPL1, INPP5B, INPP5D
11
Hide members
7.8PI4K2A, SYNJ2, SYNJ1, OCRL, INPP5K, INPPL1
12
Hide members
7.0INPP5J, INPP5D, INPP5B, INPPL1, INPP5K, INPP5A
13
Hide members
6.7INPP5E, PI4K2A, INPP5J, INPP5D, INPP5B, INPPL1

Compounds for genes affiliated with Oculocerebrorenal Syndrome

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1inositol 1,3,4,5-tetrakisphosphate44 1110.4OCRL, INPP5K, INPPL1, INPP5D, INPP5J
2inositol 1,4,5 trisphosphate449.2INPP5J, INPP5A, OCRL
3phosphatidylinositol-3,4,5-trisphosphate44 249.7GRB2, INPP5K, INPPL1, INPP5D, INPP5J, INPP5E
4phosphotyrosine448.7GRB2, INPPL1, INPP5D, RAB6A
5gtp44 289.4RAB6A, GRB2, ARHGAP1, COPB1
6phosphoinositide448.2SYNJ1, GRB2, INPPL1, INPP5D, INPP5J, RAB6A
7inositol448.2INPP5E, SYNJ1, OCRL, GRB2, INPP5K, INPPL1
8lipid447.7SYNJ1, OCRL, GRB2, INPP5K, INPPL1, INPP5D
9tyrosine447.6ARHGAP1, SYNJ1, GRB2, INPPL1, INPP5D, INPP5J
10phosphatidylinositol447.5PI4K2A, SYNJ1, OCRL, GRB2, INPP5K, INPPL1

GO Terms for genes affiliated with Oculocerebrorenal Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi-associated vesicleGO:0057989.9OCRL, COPB1
2ruffleGO:0017269.7ARHGAP1, INPP5K, INPP5J
3trans-Golgi networkGO:0058029.2OCRL, INPP5K, RAB6A
4Golgi membraneGO:0001398.8COG4, COPB1, CLCN5, RAB6A, RAB2B, GOLGA5
5Golgi apparatusGO:0057948.7GOLGA5, RAB6A, INPP5B, INPPL1, GRB2
6membraneGO:0160207.7SYNJ2, CLCN5, INPP5A, INPP5K, INPP5B, INPP5D
7plasma membraneGO:0058867.0COPB1, ARHGAP1, OCRL, GRB2, INPP5A, INPP5K
8cytosolGO:0058295.9RAB6A, COPB1, ARHGAP1, PI4K2A, SYNJ2, SYNJ1

Biological processes related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1ruffle assemblyGO:09717810.1INPPL1, INPP5K
2inositol phosphate dephosphorylationGO:04685510.1INPP5E, INPP5K
3negative regulation of neuron projection developmentGO:01097710.0INPP5J, INPPL1
4negative regulation of peptidyl-serine phosphorylationGO:03313710.0INPP5J, INPP5K
5phosphate-containing compound metabolic processGO:0067969.7SYNJ1, INPP5D
6negative regulation of insulin receptor signaling pathwayGO:0466279.7INPPL1, INPP5K
7regulation of small GTPase mediated signal transductionGO:0510569.6INPP5B, OCRL, ARHGAP1
8retrograde vesicle-mediated transport, Golgi to ERGO:0068909.6COG4, COPB1, RAB6A
9small GTPase mediated signal transductionGO:0072649.1ARHGAP1, OCRL, INPP5B, RAB6A, RAB2B
10inositol phosphate metabolic processGO:0436478.2SYNJ1, OCRL, INPP5A, INPPL1, INPP5B, INPP5D
11phosphatidylinositol biosynthetic processGO:0066618.1INPP5J, INPP5D, INPPL1, INPP5K, OCRL, SYNJ1
12phospholipid metabolic processGO:0066448.1PI4K2A, SYNJ2, SYNJ1, OCRL, INPP5K, INPPL1
13phosphatidylinositol dephosphorylationGO:0468567.3INPP5E, SYNJ2, INPP5J, INPP5D, INPP5B, INPPL1
14small molecule metabolic processGO:0442816.9PI4K2A, SYNJ2, SYNJ1, OCRL, INPP5A, INPP5K

Molecular functions related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1Rac GTPase activator activityGO:03067510.0OCRL, ARHGAP1
2phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activityGO:0344859.9INPP5J, INPP5K
3phosphatidylinositol trisphosphate phosphatase activityGO:0345949.7INPP5D, INPP5K
4inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activityGO:0526599.2INPP5J, INPP5K, INPP5A
5phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:0044399.2SYNJ2, SYNJ1, OCRL, INPP5B, INPP5E
6inositol-1,4,5-trisphosphate 5-phosphatase activityGO:0526589.0INPP5A, INPP5K, INPP5B, INPP5J
7SH3 domain bindingGO:0171248.8ARHGAP1, GRB2, INPPL1, INPP5D, INPP5J
8inositol-polyphosphate 5-phosphatase activityGO:0044458.1INPP5E, INPP5J, INPP5D, INPPL1, INPP5K, INPP5A
9protein bindingGO:0055155.3SYNJ2, PI4K2A, ARHGAP1, COPB1, COG4, OCRL

Products for genes affiliated with Oculocerebrorenal Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculocerebrorenal Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet