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465 items
released
NCIT:C61041
Serum HDL Cholesterol Measurement
fee46619-e847-4bf4-98ca-61ef1fd93cb3
released
hypertrophic cardiomyopathy type 20, CMH20, cardiomyopathy, hypertrophic, 20, NEXN hypertrophic cardiomyopathy, cardiomyopathy, familial hypertrophic, type 20, cardiomyopathy familial hypertrophic 20, hypertrophic cardiomyopathy caused by mutation in NEXN
MONDO:0013477
hypertrophic cardiomyopathy 20
fe83a6af-bf8b-40be-b622-c84a08e37f22
released
22q11.2 Deletion syndrome, pharyngeal pouch syndrome, DiGeorge syndrome, DiGeorge anomaly, DGS, DiGeorge's syndrome, DiGeorge syndrome type 1, DGS1, 22q deletion syndrome(s), Di-George syndrome
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
myopathy, myofibrillar, type 2, alpha-B crystallinopathy, autosomal dominant distal myopathy caused by mutation in CRYAB, late-onset distal crystallinopathy, myofibrillar myopathy type 2, CRYAB autosomal dominant distal myopathy
MONDO:0012130
myofibrillar myopathy 2
fd5ed70a-125a-42f2-bb33-72a25868f068
released
Dowling-Degos disease type 1, reticular pigment anomaly of flexures, dark dot disease
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-Perthes disease, Calve - Perthes' disease, pseudocoxalgia, juvenile osteochond-hip/pelvis, juvenile osteochondrosis of hip and pelvis, Legg-Calvé-Perthes disease, Legg-Calve-Perthes symptom, aseptic necrosis of the capital femoral epiphysis, Legg-Calve-Perthes disease, Perthes disease, osteochondritis of the capital femoral epiphysis, osteochondrosis of Legg-Calve-Perthes, Legg-Calve-Perthes syndrome, Perthe's disease, Osteochondrosis of the capital femoral epiphysis, Legg-CALVE-Perthes disease, Legg Calvé Perthes Disease, coxa plana, 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
GridION Sequencing Device Mk1, GridION Mk1, ONT 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
IMPDH1 retinitis pigmentosa, retinitis pigmentosa type 10, retinitis pigmentosa caused by mutation in IMPDH1, retinitis pigmentosa 10, RP10
MONDO:0008379
retinitis pigmentosa 10
f9cd437e-2a50-4a3f-8fcc-a114bfe7cd09
released
MVA, hyperimmunoglobulin D with periodic fever syndrome, HIDS, MKD, mevalonic aciduria, complete mevalonate kinase deficiency
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
intellectual disability, autosomal dominant type 15, MRD15, COFFIN-SIRIS syndrome 3, mental retardation, autosomal dominant type 15, SMARCB1-related BAFopathy, Coffin-Siris syndrome caused by mutation in SMARCB1, SMARCB1 Coffin-Siris syndrome, autosomal dominant intellectual disability 15, intellectual disability, autosomal dominant 15, autosomal dominant mental retardation 15, CSS3
MONDO:0013820
intellectual disability, autosomal dominant 15
f70b70dc-7894-4b18-bb87-439f7e659041
released
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, UBQLN2 amyotrophic lateral sclerosis, amyotrophic lateral sclerosis 15, amyotrophic lateral sclerosis caused by mutation in UBQLN2, amyotrophic lateral sclerosis type 15, amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant, ALS15
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