released

NCIT:C61041

Serum HDL Cholesterol Measurement

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

released

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

MONDO:0013477

hypertrophic cardiomyopathy 20

fe83a6af-bf8b-40be-b622-c84a08e37f22

released

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

MONDO:0008564

DiGeorge syndrome

fe463bf9-edd2-4a32-867e-8aca19cf443f

released

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

MONDO:0012130

myofibrillar myopathy 2

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

released

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

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

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

MONDO:0008379

retinitis pigmentosa 10

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

released

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

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

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

MONDO:0013820

intellectual disability, autosomal dominant 15

f70b70dc-7894-4b18-bb87-439f7e659041

released

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

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

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

MONDO:0018958

nemaline myopathy

eff96d19-0968-4417-b425-e03814ebe884

released

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

MONDO:0008296

familial porphyria cutanea tarda

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

released

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

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

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

MONDO:0014073

dilated cardiomyopathy 1II

eb9f835d-1149-435f-b1b4-0f453f097dda