C0740340

Amyloidosis, Familial

FGA, TTR

C0745103

Hyperlipoproteinemia Type Iia

ABCA1, GHR, APOA2, LDLR

C0751038

Cockayne Syndrome, Type Ii

ERCC1

C0751039

Cockayne Syndrome, Type I

ERCC4

C0751072

Frontotemporal Lobar Degeneration

SIGMAR1, TARDBP, GRN, TMEM106B

C0751161

Udpglucose 4-Epimerase Deficiency Disease

GALE

C0751173

Glycogen Storage Disease Type Ii, Infantile

GAA

C0751202

Cystathionine Beta-Synthase Deficiency Disease

CBS

C0751273

Infantile Globoid Cell Leukodystrophy

GALC, PSAP

C0751276

Metachromatic Leukodystrophy, Juvenile Type

ARSA, PSAP

C0751278

Metachromatic Leukodystrophy, Infant

ARSA

C0751279

Metachromatic Leukodystrophy, Adult-Type (Disorder)

ARSA, PSAP

C0751383

Juvenile Neuronal Ceroid Lipofuscinosis

CLN3

C0751651

Mitochondrial Diseases

MPV17, POLG, SOD2, NUBPL, NOL3, MGME1

C0751706

Primary Progressive Nonfluent Aphasia

GRN, MAPT, PSEN1, VCP

C0751748

Nonketotic Hyperglycinemia

GCSH

C0751915

Pelizaeus-Merzbacher Disease, Atypical

PLP1

C0751916

Classic Pelizaeus-Merzbacher Disease

PLP1

C0751917

Pelizaeus-Merzbacher Disease, Transitional

PLP1

C0752109

Brain Diseases, Metabolic, Inborn

FOLR1, NDUFAF2

C0878677

Glycogen Storage Disease Type Iib

LAMP2

C0878681

Dent'S Disease

CLCN5

C0917796

Optic Atrophy, Hereditary, Leber

IL1A, IL1B

C0936256

Lysine Alpha-Ketoglutarate Reductase Deficiency Disease

AASS

C1136321

HIV-Associated Lipodystrophy Syndrome

LMNA

C1285261

Fetal Nutrition Disorders

MAOA

C1333990

Hereditary Nonpolyposis Colorectal Cancer

MLH3, MSH6, KRAS, EPCAM, MLH1, MSH2, PIK3CA, PMS1, RPS20, BMPR1A, TGFBR2, LRRFIP2

C1449843

Pseudohypoaldosteronism, Type I, Autosomal Recessive

SCNN1A, SCNN1G

C1449844

Pseudohypoaldosteronism, Type Ii

KLHL3, CUL3

C1527338

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

CST3

C1621920

Intermediate Maple Syrup Urine Disease

PPM1K, DBT, BCKDHA, BCKDHB

C1704299

Hypobetalipoproteinemia, Familial, Apolipoprotein B

APOB

C1704417

Hyperlipoproteinemia Type Iib

APOB

C1704429

Hypoalphalipoproteinemia, Familial

ABCA1, APOA1

C1720859

Familial Partial Lipodystrophy, Type 1

LMNA

C1720860

Familial Partial Lipodystrophy, Type 2

LMNA

C1720861

Familial Partial Lipodystrophy, Type 3

PPARG

C1720864

Sulfatidosis, Juvenile, Austin Type

SUMF1

C1845168

Hypophosphatemic Rickets, X-Linked Recessive

CLCN5

C1864100

Pseudohypoparathyroidism, Type Ib

GNAS

C1959620

Dihydropyrimidine Dehydrogenase Deficiency

DPYD

C1959626

Mevalonic Aciduria

MVK

C2350233

Antley-Bixler Syndrome Phenotype

FGFR2

C2700553

Omenn Syndrome

ADA, IL7R, CHD7, RAG1, DCLRE1C

C2713347

7-Dehydrocholesterol Reductase Deficiency

DHCR7

C2717836

Steroid Sulfatase Deficiency Disease

STS

C2931833

Hyperinsulinemic Hypoglycemia, Familial, 2

KCNJ11

C2936791

Antley-Bixler Syndrome, Autosomal Dominant

FGFR1, FGFR2

C2939465

Deficiency Of Glucose-6-Phosphate Dehydrogenase

G6PD

C3179455

Niemann-Pick Disease, Type C1

NPC1

C3494506

Pseudohypoparathyroidism, Type Ia

GNAS

C3536983

Familial Hypophosphatemic Rickets

CLCN5

C3888018

Congenital Hyperinsulinism

KCNJ11