Th Results

CTH

cystathionine gamma-lyase
06/14/2019

GLI2

GLI family zinc finger 2
08/13/2019

PTHLH

parathyroid hormone like hormone
01/10/2019

NAA15

N(alpha)-acetyltransferase 15, NatA auxiliary subunit
02/27/2019

MTHFR

methylenetetrahydrofolate reductase
06/18/2019

YTHDC1

YTH domain containing 1
04/24/2019

TTC21B

tetratricopeptide repeat domain 21B
10/18/2018

THRA

thyroid hormone receptor alpha
05/31/2017

SLC6A1

solute carrier family 6 member 1
09/27/2019

ACAT1

acetyl-CoA acetyltransferase 1
05/22/2018

NTHL1

nth like DNA glycosylase 1
06/08/2017

TTC37

tetratricopeptide repeat domain 37
11/09/2018

GTPBP3

GTP binding protein 3, mitochondrial
02/12/2020

ETHE1

ETHE1, persulfide dioxygenase
04/08/2019

TH

tyrosine hydroxylase
03/22/2019

MC2R

melanocortin 2 receptor
05/31/2017

SLC19A3

solute carrier family 19 member 3
01/14/2019

SCN9A

sodium voltage-gated channel alpha subunit 9
06/15/2018

AADACL3

arylacetamide deacetylase like 3

AADACL4

arylacetamide deacetylase like 4

hypertrophic cardiomyopathy

MONDO_0005045 Condition
Obstructive hypertrophic cardiomyopathy
08/06/2018

familial thoracic aortic aneurysm and aortic dissection

MONDO_0019625 Condition
Familial TAAD
04/10/2017

Noonan syndrome-like disorder with loose anagen hair

MONDO_0011899 Condition
Tosti syndrome
07/25/2018

Noonan syndrome with multiple lentigines

MONDO_0007893 Condition
Cardiomyopathic lentiginosis
07/25/2018

undetermined early-onset epileptic encephalopathy

MONDO_0018614 Condition
Undetermined EOEE
01/17/2019

early infantile epileptic encephalopathy

MONDO_0016021 Condition
Early Infantile Epileptic Encephalopathy with Burst-Suppression
10/25/2019

glycine encephalopathy

MONDO_0011612 Condition
Non-ketotic hyperglycinemia
05/24/2019

aneurysm-osteoarthritis syndrome

MONDO_0013426 Condition
Loeys-Dietz Syndrome type 3
08/22/2019

hypertrophic cardiomyopathy 10

MONDO_0012112 Condition
Cardiomyopathy, Familial Hypertrophic, type 10
01/11/2018

06/01/2017

09/30/2019

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

MONDO_0009612 Condition
Methylmalonyl-CoA mutase deficiency
05/09/2019

hyperparathyroidism-jaw tumor syndrome

MONDO_0007768 Condition
Hyperparathyroidism-2
04/19/2019

arrhythmogenic right ventricular dysplasia 9

MONDO_0012180 Condition
arrhythmogenic right ventricular cardiomyopathy 9
08/22/2019

ornithine carbamoyltransferase deficiency

MONDO_0010703 Condition
Ornithine carbamoyltransferase deficiency
10/29/2019

methylmalonic aciduria and homocystinuria type cblC

MONDO_0010184 Condition
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
05/24/2019

nemaline myopathy 7

MONDO_0012538 Condition
Nemaline Myopathy type 7
11/25/2019

Charcot-Marie-Tooth disease type 1A

MONDO_0007309 Condition
Microduplication 17p12
08/22/2019

myofibrillar myopathy 5

MONDO_0012289 Condition
myofibrillar myopathy type 5
02/14/2019

arrhythmogenic right ventricular dysplasia 11

MONDO_0012506 Condition
Arrhythmogenic Right Ventricular Dysplasia, Familial, type 11
01/07/2019

Menthol 0.08 MG/MG Topical Gel

RXNORM:283257 Drug

Edetic Acid Ophthalmic Solution

RXNORM:379362 Drug

AK-Con-A Ophthalmic Product

RXNORM:1165910 Drug