released

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

MONDO:0013477

hypertrophic cardiomyopathy 20

fe83a6af-bf8b-40be-b622-c84a08e37f22

released

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

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

MONDO:0012130

myofibrillar myopathy 2

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

released

Dowling-Degos disease type 1, dark dot disease, 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

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

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

Oxford Nanopore Technologies GridION Mk1, GridION Mk1, GridION Sequencing Device Mk1, ONT 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 10, retinitis pigmentosa type 10, RP10, IMPDH1 retinitis pigmentosa, retinitis pigmentosa caused by mutation in IMPDH1

MONDO:0008379

retinitis pigmentosa 10

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

released

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

MONDO:0012481

mevalonic aciduria

f9643c09-92dc-42e5-b71b-7fdd1c204591

released

OBI:0000185

imaging assay

f866d490-36b1-4226-9d0b-43e011c317ba

released

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

MONDO:0010420

X-linked erythropoietic protoporphyria

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

released

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

MONDO:0013820

intellectual disability, autosomal dominant 15

f70b70dc-7894-4b18-bb87-439f7e659041

released

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

MONDO:0010459

amyotrophic lateral sclerosis type 15

f65639ce-eca6-4125-8b4e-132c766c3b71

released

monilethrix, moniliform hair syndrome

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

released

Leber congenital amaurosis 4, LCA4, Leber congenital amaurosis caused by mutation in AIPL1, AIPL1 Leber congenital amaurosis, Leber congenital amaurosis type 4

MONDO:0011458

Leber congenital amaurosis 4

f3581aa9-3839-4d26-a784-69dea5976ba8

released

properdin deficiency, X-linked, X-linked recessive, properdin deficiency, X-linked

MONDO:0010713

properdin deficiency, X-linked

f2b02b30-5f2d-41e6-84cb-c5a2df2b2440

released

NMNAT1 Leber congenital amaurosis, Leber congenital amaurosis caused by mutation in NMNAT1, LCA9, Leber congenital amaurosis type 9, Leber congenital amaurosis 9

MONDO:0012056

Leber congenital amaurosis 9

f24a3484-6937-492f-aa47-cd6dc81a73f6