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Status
released
458 items
released
NCIT:C61041
Serum HDL Cholesterol Measurement
fee46619-e847-4bf4-98ca-61ef1fd93cb3
released
NEXN hypertrophic cardiomyopathy, cardiomyopathy, hypertrophic, 20, cardiomyopathy familial hypertrophic 20, hypertrophic cardiomyopathy caused by mutation in NEXN, cardiomyopathy, familial hypertrophic, type 20, hypertrophic cardiomyopathy type 20, CMH20
MONDO:0013477
hypertrophic cardiomyopathy 20
fe83a6af-bf8b-40be-b622-c84a08e37f22
released
22q deletion syndrome(s), DGS, pharyngeal pouch syndrome, 22q11.2 Deletion syndrome, DGS1, DiGeorge syndrome type 1, Di-George syndrome, DiGeorge syndrome, DiGeorge's syndrome, DiGeorge anomaly
MONDO:0008564
DiGeorge syndrome
fe463bf9-edd2-4a32-867e-8aca19cf443f
released
glandula suprarenalis, glandula adrenalis
UBERON:0002369
adrenal gland
fdcee4a9-07ef-428b-b65a-13166a535a09
released
m.gastrocnemius, gastrocnemius muscle, m. gastrocnemius
UBERON:0001388
gastrocnemius
fdb9139f-63d8-4892-b285-0e719bb2acca
released
NTR:0000750
left hippocampal formation
fd63e0eb-8b71-46bd-8c2f-f8df78def320
released
myofibrillar myopathy type 2, CRYAB autosomal dominant distal myopathy, myopathy, myofibrillar, type 2, alpha-B crystallinopathy, autosomal dominant distal myopathy caused by mutation in CRYAB, late-onset distal crystallinopathy
MONDO:0012130
myofibrillar myopathy 2
fd5ed70a-125a-42f2-bb33-72a25868f068
released
dark dot disease, Dowling-Degos disease type 1, reticular pigment anomaly of flexures
MONDO:0008371
Dowling-Degos disease
fd4d0d46-4fb3-4150-83de-02f0240b0ab9
released
EFO:0004203
Illumina HiSeq 2000
fcd3ad7e-baa4-4f99-b779-f104501a8df7
released
NCIT:C61037
Serum Triglyceride Measurement
fbd4fb25-3edd-4e11-a8fd-b0223cd995ec
released
juvenile osteochondrosis of hip and/or pelvis, Legg-CALVE-Perthes disease, juvenile osteochond-hip/pelvis, coxa plana, Legg-Calvé-Perthes disease, Perthes disease, Legg Calvé Perthes Disease, Calve - Perthes' disease, aseptic necrosis of the capital femoral epiphysis, osteochondritis of the capital femoral epiphysis, juvenile osteochondrosis of hip and pelvis, osteochondrosis of Legg-Calve-Perthes, Osteochondrosis of the capital femoral epiphysis, Legg-Perthes disease, Legg-Calve-Perthes symptom, Legg-Calve-Perthes syndrome, Perthe's disease, Legg-Calve-Perthes disease, pseudocoxalgia, Pseudocoxalgia
MONDO:0007885
Legg-Calve-Perthes disease
fbd03092-71a1-4292-a154-d9cbef0be84e
released
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
MONDO:0013761
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
fb845862-0bad-4a8f-a982-09ba56475326
released
metacarpal
UBERON:0002374
metacarpal bone
fac4f94e-752a-4758-ae91-90d8570ffdf7
released
ONT GridION Mk1, GridION Sequencing Device Mk1, GridION Mk1, Oxford Nanopore Technologies GridION Mk1
EFO:0008633
ONT GridION X5
fa1b82a4-cde0-4a15-afd2-edf304d9c53d
released
EFO:0008637
Illumina NovaSeq 6000
f9e9ffe1-b463-4b15-964c-e926bfcf58a8
released
RP10, retinitis pigmentosa 10, retinitis pigmentosa type 10, IMPDH1 retinitis pigmentosa, retinitis pigmentosa caused by mutation in IMPDH1
MONDO:0008379
retinitis pigmentosa 10
f9cd437e-2a50-4a3f-8fcc-a114bfe7cd09
released
MVA, mevalonic aciduria, complete mevalonate kinase deficiency, hyperimmunoglobulin D with periodic fever syndrome, MKD, HIDS
MONDO:0012481
mevalonic aciduria
f9643c09-92dc-42e5-b71b-7fdd1c204591
released
EFO:0022841
Illumina NovaSeq X Plus
f8849ed6-849d-4c2d-a517-e40b0e9cba12
released
OBI:0000185
imaging assay
f866d490-36b1-4226-9d0b-43e011c317ba
released
colonic epithelial cell
CL:0011108
colon epithelial cell
f8171359-a697-4049-9c4b-05a25061de81
released
NCIT:C121974
B Acute Lymphoblastic Leukemia, BCR-ABL1-Like
f7f632c5-2d46-4ae5-9016-5d48b4ca7ff5
released
X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, erythropoietic protoporphyria, X-linked, XLDPP, XLPP
MONDO:0010420
X-linked erythropoietic protoporphyria
f7caba37-1bcb-47e9-9607-2ea6394a77aa
released
mental retardation, autosomal dominant type 15, intellectual disability, autosomal dominant type 15, MRD15, SMARCB1-related BAFopathy, Coffin-Siris syndrome caused by mutation in SMARCB1, COFFIN-SIRIS syndrome 3, SMARCB1 Coffin-Siris syndrome, CSS3, autosomal dominant mental retardation 15, intellectual disability, autosomal dominant 15, autosomal dominant intellectual disability 15
MONDO:0013820
intellectual disability, autosomal dominant 15
f70b70dc-7894-4b18-bb87-439f7e659041
released
ALS15, amyotrophic lateral sclerosis type 15, amyotrophic lateral sclerosis 15, UBQLN2 amyotrophic lateral sclerosis, amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant, amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, amyotrophic lateral sclerosis caused by mutation in UBQLN2
MONDO:0010459
amyotrophic lateral sclerosis type 15
f65639ce-eca6-4125-8b4e-132c766c3b71
released
moniliform hair syndrome, monilethrix
MONDO:0008009
monilethrix
f6423123-7d82-4d20-a857-aacb2d4aff4c