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Object Type

428 items
  • PhenotypeTerm
    NCIT:C61041
    Serum HDL Cholesterol Measurement
    released
  • PhenotypeTerm
    MONDO:0013477
    hypertrophic cardiomyopathy 20
    Synonyms
    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
    released
  • PhenotypeTerm
    MONDO:0008564
    DiGeorge syndrome
    Synonyms
    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
    released
  • SampleTerm
    UBERON:0002369
    adrenal gland
    Synonyms
    glandula suprarenalis, glandula adrenalis
    released
  • SampleTerm
    UBERON:0001388
    gastrocnemius
    Synonyms
    m. gastrocnemius, gastrocnemius muscle, m.gastrocnemius
    released
  • SampleTerm
    NTR:0000750
    left hippocampal formation
    released
  • PhenotypeTerm
    MONDO:0012130
    myofibrillar myopathy 2
    Synonyms
    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
    released
  • PhenotypeTerm
    MONDO:0008371
    Dowling-Degos disease
    Synonyms
    reticular pigment anomaly of flexures, dark dot disease, Dowling-Degos disease type 1
    released
  • PlatformTerm
    EFO:0004203
    Illumina HiSeq 2000
    released
  • PhenotypeTerm
    NCIT:C61037
    Serum Triglyceride Measurement
    released
  • PhenotypeTerm
    MONDO:0007885
    Legg-Calve-Perthes disease
    Synonyms
    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
    released
  • PhenotypeTerm
    MONDO:0013761
    childhood encephalopathy due to thiamine pyrophosphokinase deficiency
    Synonyms
    childhood encephalopathy due to thiamine pyrophosphokinase deficiency
    released
  • SampleTerm
    UBERON:0002374
    metacarpal bone
    Synonyms
    metacarpal
    released
  • PlatformTerm
    EFO:0008633
    ONT GridION X5
    Synonyms
    ONT GridION Mk1, GridION Sequencing Device Mk1, Oxford Nanopore Technologies GridION Mk1, GridION Mk1
    released
  • PlatformTerm
    EFO:0008637
    Illumina NovaSeq 6000
    released
  • PhenotypeTerm
    MONDO:0008379
    retinitis pigmentosa 10
    Synonyms
    retinitis pigmentosa type 10, IMPDH1 retinitis pigmentosa, RP10, retinitis pigmentosa 10, retinitis pigmentosa caused by mutation in IMPDH1
    released
  • PhenotypeTerm
    MONDO:0012481
    mevalonic aciduria
    Synonyms
    complete mevalonate kinase deficiency, hyperimmunoglobulin D with periodic fever syndrome, MVA, mevalonic aciduria, HIDS, MKD
    released
  • PlatformTerm
    EFO:0022841
    Illumina NovaSeq X Plus
    released
  • AssayTerm
    OBI:0000185
    imaging assay
    released
  • PhenotypeTerm
    MONDO:0010420
    X-linked erythropoietic protoporphyria
    Synonyms
    X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, XLDPP, XLPP, erythropoietic protoporphyria, X-linked
    released
  • PhenotypeTerm
    MONDO:0013820
    intellectual disability, autosomal dominant 15
    Synonyms
    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
    released
  • PhenotypeTerm
    MONDO:0010459
    amyotrophic lateral sclerosis type 15
    Synonyms
    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
    released
  • PhenotypeTerm
    MONDO:0008009
    monilethrix
    Synonyms
    moniliform hair syndrome, monilethrix
    released
  • PhenotypeTerm
    MONDO:0001516
    spinal muscular atrophy
    released
  • AssayTerm
    OBI:0003659
    in vitro CRISPR screen assay
    released