C0033835

Pseudopseudohypoparathyroidism

GNAS

C0034139

Purine-Pyrimidine Metabolism, Inborn Errors

DPYD

C0034341

Pyruvate Carboxylase Deficiency Disease

PC

C0034345

Pyruvate Dehydrogenase Complex Deficiency Disease

PDHA1, PDHB

C0034350

Pyruvate Metabolism, Inborn Errors

PDHA1

C0035579

Rickets

CYP27B1, PTH, VDR

C0036489

Sea-Blue Histiocyte Syndrome

APOE

C0037231

Sjogren-Larsson Syndrome

ALDH3A2

C0039292

Tangier Disease

ABCA1

C0039373

Tay-Sachs Disease

GM2A, HEXA

C0039621

Tetany

CNNM2

C0039841

Thiamine Deficiency

SERPINA1

C0042842

Vitamin A Deficiency

PARP1, RBP4, BMP4

C0042847

Vitamin B 12 Deficiency

ABCD4

C0042870

Vitamin D Deficiency

CYP2R1, GC, LRP2, NADSYN1, VDR

C0043119

Werner Syndrome

LMNA

C0043121

Wernicke Encephalopathy

TKT

C0043207

Wolfram Syndrome

CISD2

C0043208

Wolman Disease

LIPA

C0043346

Xeroderma Pigmentosum

POLH, XPA

C0043459

Zellweger Syndrome

HSD17B4, PEX12, PEX14, ABCD3, PEX3, PEX11B

C0078918

Albinism, Oculocutaneous

MITF, TYR

C0079588

Ichthyosis, X-Linked

STS

C0080024

Piebaldism

KIT, SNAI2

C0085110

Severe Combined Immunodeficiency

ADA, IL7R, JAK3, RAG1, DCLRE1C, TFRC

C0085207

Gestational Diabetes

IGF2BP2, CYP19A1, FGF2, AR, LEP, LEPR, MBL2, CDKAL1, SOD2, ADIPOQ

C0085220

Cerebral Amyloid Angiopathy

APOE, APP

C0085390

Li-Fraumeni Syndrome

MDM2, TP53

C0085681

Hyperphosphatemia (Disorder)

PTH, KL

C0086647

Mucopolysaccharidosis Type Iiia

SGSH, GNPTAB

C0086648

Mps Iii B

NAGLU

C0086649

Mps Iii C

HGSNAT

C0086650

Mps Iii D

GNS

C0086651

Mucopolysaccharidosis, Mps-Iv-A

GALNS

C0154251

Lipid Metabolism Disorders

HADHB

C0162309

Adrenoleukodystrophy

HMOX1, SOD2

C0162316

Iron Deficiency Anemia

TMPRSS6, SLC11A2, TFRC

C0162429

Malnutrition

MTHFR, MTR, CBS

C0162531

Hereditary Coproporphyria

CPOX

C0162533

Porphyrias, Hepatic

ALAD

C0162566

Porphyria Cutanea Tarda

CPOX, HFE, UROD

C0162568

Erythropoietic Protoporphyria

EREG, AREG, BTC

C0162569

Hepatoerythropoietic Porphyria

UROD

C0162666

Mitochondrial Encephalomyopathies

FARS2, NDUFS2, NDUFV2, MFF, C12orf65

C0162670

Mitochondrial Myopathies

IL1A, IL1B, IL6, TNF

C0162671

Melas Syndrome

IL1A, IL1B, NDUFS1, SOD2

C0162672

Merrf Syndrome

IL1A, IL1B

C0162674

Chronic Progressive External Ophthalmoplegia

IL1A, IL1B, POLG, SOD2

C0175683

Citrullinemia

ASS1

C0175694

Smith-Lemli-Opitz Syndrome

DHCR7

C0205711

Pelizaeus-Merzbacher Disease

LMNB1, PLP1

C0206245

Amyloid Neuropathies, Familial

TTR

C0220756

Niemann-Pick Disease, Type C

LIPA, NPC1

C0221043

Liddle Syndrome

SCNN1A, SCNN1G

C0238402

Pycnodysostosis

CTSK

C0242339

Dyslipidemias

AHR, HP, APOB, LDLR, LEPR, LPL, PPARA, PPARG, TMEM57, DNAH11, VNN1

C0265344

Donohue Syndrome

INSR

C0268151

Classical Galactosemia

GALT

C0268226

Type I Mucolipidosis

NEU1

C0268237

Cytochrome-C Oxidase Deficiency

PET100, COX20, COX6B1, COA3, TACO1, APOPT1, COX14

C0268247

Niemann-Pick Disease, Type D

NPC1

C0268252

Late-Onset Globoid Cell Leukodystrophy

GALC

C0268255

Farber Lipogranulomatosis

ASAH1, SOD2

C0268263

Multiple Sulfatase Deficiency Disease

SUMF1

C0268275

Tay-Sachs Disease, Ab Variant

GM2A

C0268393

Familial Cerebral Amyloid Angiopathy

CST3

C0268394

Hereditary Cerebral Amyloid Angiopathy, Dutch Type

APP

C0268450

Gitelman Syndrome

CLCNKB

C0268465

Phenylketonuria Ii

QDPR

C0268483

Tyrosinemias

FAH

C0268490

Tyrosinemia, Type I

FAH

C0268553

Hyperlysinemias

AASS

C0268556

Saccharopinuria

AASS

C0268568

Classic Maple Syrup Urine Disease

DBT, BCKDHA, BCKDHB

C0268569

Intermittent Maple Syrup Urine Disease

DBT, BCKDHA, BCKDHB

C0268579

Propionic Acidemia

PCCA

C0268596

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

ETFDH

C0271650

Impaired Glucose Tolerance

PRDX4, INS, INSR, PRKAA2, RARRES2, SLC12A2, CD36

C0271694

Familial Partial Lipodystrophy

AKT2, LMNA, PPARG, PPP1R3A, CAV1

C0271695

Rabson-Mendenhall Syndrome

INSR

C0282193

Iron Overload

FTH1, SLC40A1, HAMP, TF

C0282525

Adrenoleukodystrophy, Neonatal

PEX12, PEX14, PEX3, PEX11B

C0282527

Infantile Refsum Disease (Disorder)

PEX12, PEX14, PEX3, PEX11B

C0282528

Peroxisomal Disorders

HSD17B4, PIPOX

C0311277

Obesity, Abdominal

HSD11B1

C0338451

Frontotemporal Dementia

GRN, MAPT, PSEN1

C0338462

Semantic Dementia

GRN, MAPT, PSEN1, VCP

C0338508

Optic Atrophy, Autosomal Dominant

OPA1

C0342488

Mineralocorticoid Excess Syndrome, Apparent

HSD11B2

C0342649

Vascular Calcification

MGP

C0342731

Deficiency Of Mevalonate Kinase

MVK

C0342853

Sialuria

GNE

C0343755

HIV Wasting Syndrome

IL1A, IL1B, IL6, TNF

C0392514

Hereditary Hemochromatosis

HFE, HAMP, TFR2

C0398691

Hyperimmunoglobulinemia D

MVK

C0398791

Nijmegen Breakage Syndrome

NBN

C0473527

Hypoalphalipoproteinemias

ABCA1, APOA1

C0524620

Metabolic Syndrome X

NR1H3, TOMM40, APOA5, CRP, LOC157273, ABCA1, GALNT2, HECTD4, HMGA1, HTR2C, APOB, IL6, IL18, INS, LEP, FADS1, LPL, NOS3, PON1, RETN, TRIB3, CCL2, SHBG, TCF7L2, FTO, BUD13, ZPR1, ADIPOQ, FADS2

C0543859

Amyotrophic Lateral Sclerosis, Guam Form

TRPM7

C0598608

Hyperhomocysteinemia

SLC46A1, DES, PYCARD, MTHFR, PON1, TNF, CASP1, CBS