Ide Results

CIDEC

cell death inducing DFFA like effector c
10/19/2018

C19orf38

chromosome 19 open reading frame 38

CIDEA

cell death-inducing DFFA-like effector a

CIDEB

cell death-inducing DFFA-like effector b

IDE

insulin degrading enzyme

MUL1

mitochondrial E3 ubiquitin protein ligase 1

03/21/2018

vitamin B12-responsive methylmalonic acidemia type cblB

MONDO_0009614 Condition
methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
03/21/2018

epidermodysplasia verruciformis

MONDO_0009176 Condition
Lewandowsky-Lutz Dysplasia
10/16/2018

vitamin B12-responsive methylmalonic acidemia type cblA

MONDO_0009613 Condition
methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
03/21/2018

choroideremia

MONDO_0010557 Condition
progressive Choroidal Atrophy
06/01/2017

congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome

MONDO_0013881 Condition
Congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
10/18/2018

epidermolysis bullosa simplex due to exophilin 5 deficiency

MONDO_0014014 Condition
EBS-AR exophilin 5
10/17/2018

CIDEC-related familial partial lipodystrophy

MONDO_0014098 Condition
CIDEC-related FPLD
10/19/2018

syndromic X-linked intellectual disability Siderius type

MONDO_0010286 Condition
Siderius-Hamel syndrome
10/10/2018

propionic acidemia

MONDO_0011628 Condition
ketotic glycinemia
11/13/2018

purine nucleoside phosphorylase deficiency

MONDO_0013171 Condition
Purine-Nucleoside Phosphorylase deficiency
10/25/2018

combined malonic and methylmalonic acidemia

MONDO_0013661 Condition
Combined malonic and methylmalonic aciduria
10/19/2018

transient infantile hypertriglyceridemia and hepatosteatosis

MONDO_0013771 Condition
Transient infantile hypertriglyceridemia and fatty liver
10/17/2018

nonepidermolytic palmoplantar keratoderma

MONDO_0006588 Condition
tylosis

epidermolysis bullosa dystrophica

MONDO_0006543 Condition
Dystrophic epidermolysis bullosa

epidermolysis bullosa

MONDO_0006541 Condition
acantholysis bullosa

lethal acantholytic epidermolysis bullosa

MONDO_0012323 Condition
LAEB

Zinc Oxide 10 MG

RXNORM:1145107 Drug

Cupric oxide 1.5 MG

RXNORM:1145105 Drug

Zinc Oxide 0.15 MG/MG

RXNORM:333087 Drug

Isosorbide 450 MG/ML

RXNORM:328848 Drug

galantamine hydrobromide

RXNORM:860693 Drug