released

NCIT:C61041

Serum HDL Cholesterol Measurement

fee46619-e847-4bf4-98ca-61ef1fd93cb3

released

CMH20, cardiomyopathy, familial hypertrophic, type 20, cardiomyopathy, hypertrophic, 20, hypertrophic cardiomyopathy caused by mutation in NEXN, hypertrophic cardiomyopathy type 20, NEXN hypertrophic cardiomyopathy, cardiomyopathy familial hypertrophic 20

MONDO:0013477

hypertrophic cardiomyopathy 20

fe83a6af-bf8b-40be-b622-c84a08e37f22

released

DiGeorge anomaly, 22q11.2 Deletion syndrome, Di-George syndrome, DiGeorge's syndrome, DiGeorge syndrome, 22q deletion syndrome(s), DGS, DiGeorge syndrome type 1, DGS1, pharyngeal pouch 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

myofibrillar myopathy type 2, CRYAB autosomal dominant distal myopathy, late-onset distal crystallinopathy, alpha-B crystallinopathy, autosomal dominant distal myopathy caused by mutation in CRYAB, myopathy, myofibrillar, type 2

MONDO:0012130

myofibrillar myopathy 2

fd5ed70a-125a-42f2-bb33-72a25868f068

released

reticular pigment anomaly of flexures, dark dot disease, Dowling-Degos disease type 1

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-Calvé-Perthes disease, Legg-Calve-Perthes disease, osteochondrosis of Legg-Calve-Perthes, aseptic necrosis of the capital femoral epiphysis, Legg-Calve-Perthes symptom, Pseudocoxalgia, juvenile osteochondrosis of hip and pelvis, coxa plana, pseudocoxalgia, Osteochondrosis of the capital femoral epiphysis, Perthe's disease, juvenile osteochond-hip/pelvis, Legg-Perthes disease, Calve - Perthes' disease, Perthes disease, osteochondritis of the capital femoral epiphysis, Legg-Calve-Perthes syndrome, Legg-CALVE-Perthes disease, Legg Calvé Perthes Disease

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, Oxford Nanopore Technologies GridION Mk1, GridION Mk1

EFO:0008633

ONT GridION X5

fa1b82a4-cde0-4a15-afd2-edf304d9c53d

released

EFO:0008637

Illumina NovaSeq 6000

f9e9ffe1-b463-4b15-964c-e926bfcf58a8

released

retinitis pigmentosa type 10, IMPDH1 retinitis pigmentosa, RP10, retinitis pigmentosa 10, retinitis pigmentosa caused by mutation in IMPDH1

MONDO:0008379

retinitis pigmentosa 10

f9cd437e-2a50-4a3f-8fcc-a114bfe7cd09

released

complete mevalonate kinase deficiency, hyperimmunoglobulin D with periodic fever syndrome, MVA, mevalonic aciduria, HIDS, MKD

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

X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, XLDPP, XLPP, erythropoietic protoporphyria, X-linked

MONDO:0010420

X-linked erythropoietic protoporphyria

f7caba37-1bcb-47e9-9607-2ea6394a77aa

released

Coffin-Siris syndrome caused by mutation in SMARCB1, autosomal dominant mental retardation 15, intellectual disability, autosomal dominant type 15, MRD15, COFFIN-SIRIS syndrome 3, SMARCB1 Coffin-Siris syndrome, autosomal dominant intellectual disability 15, CSS3, SMARCB1-related BAFopathy, intellectual disability, autosomal dominant 15, mental retardation, autosomal dominant type 15

MONDO:0013820

intellectual disability, autosomal dominant 15

f70b70dc-7894-4b18-bb87-439f7e659041

released

amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, amyotrophic lateral sclerosis type 15, ALS15, amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant, amyotrophic lateral sclerosis 15, amyotrophic lateral sclerosis caused by mutation in UBQLN2, UBQLN2 amyotrophic lateral sclerosis

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

released

MONDO:0001516

spinal muscular atrophy

f6296166-0e27-4223-b49d-e46252c05042

released

OBI:0003659

in vitro CRISPR screen assay

f3a11d69-fece-4534-b326-e735b407b4d0