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

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

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

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

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

released

MONDO:0001516

spinal muscular atrophy

f6296166-0e27-4223-b49d-e46252c05042

released

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

MONDO:0011458

Leber congenital amaurosis 4

f3581aa9-3839-4d26-a784-69dea5976ba8

released

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

MONDO:0010713

properdin deficiency, X-linked

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

released

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

MONDO:0012056

Leber congenital amaurosis 9

f24a3484-6937-492f-aa47-cd6dc81a73f6

released

spondyloepimetaphyseal dysplasia, Strudwick type

MONDO:0008476

spondyloepimetaphyseal dysplasia, Strudwick type

f06d9da9-70f3-4070-8f6d-5af498c7dbc9

released

rod myopathy, nemaline rod myopathy, nemaline body disease, NM, NEM, nemaline myopathy

MONDO:0018958

nemaline myopathy

eff96d19-0968-4417-b425-e03814ebe884

released

porphyria cutanea tarda, susceptibility to, hereditary porphyria cutanea tarda, porphyria cutanea tarda type II

MONDO:0008296

familial porphyria cutanea tarda

ee458e00-2d0e-40a9-b98a-4e983f590472

released

autosomal dominant isolated neurosensory hearing loss type DFNA, autosomal dominant nonsyndromic hearing loss, autosomal dominant nonsyndromic hearing impairment, autosomal dominant non-syndromic sensorineural hearing loss type DFNA, autosomal dominant non-syndromic neurosensory hearing loss type DFNA, autosomal dominant isolated sensorineural hearing loss type DFNA

MONDO:0019587

autosomal dominant nonsyndromic hearing loss

ec02dbab-dbfa-470e-9956-759dc21dc960

released

EBS2D

MONDO:0030535

epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive

ebbd1adc-d5da-45df-9fd9-7fc7b49d4d5b

released

dilated cardiomyopathy type 1II, familial isolated dilated cardiomyopathy caused by mutation in CRYAB, CRYAB familial isolated dilated cardiomyopathy, CMD1II, cardiomyopathy, dilated, type 1II

MONDO:0014073

dilated cardiomyopathy 1II

eb9f835d-1149-435f-b1b4-0f453f097dda