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

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

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

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

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

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

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

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

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

MONDO:0018958

nemaline myopathy

eff96d19-0968-4417-b425-e03814ebe884

released

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

MONDO:0008296

familial porphyria cutanea tarda

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

released

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

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

MONDO:0014073

dilated cardiomyopathy 1II

eb9f835d-1149-435f-b1b4-0f453f097dda

released

immunodeficiency 14, immunodeficiency type 14, immunodeficiency 14A, autosomal dominant, Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)

MONDO:0014222

immunodeficiency 14

eb159419-f5bb-45df-b4ff-23268067249b