Disorders

Home

Disorders

0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z

C Syndrome Tests OMIM
C10orf2-Related Ataxia Neuropathy Spectrum Disorders Tests OMIM
C3 Deficiency, Autosomal Recessive Tests OMIM
CADASIL Tests GeneReview OMIM
Caffey Disease Tests GeneReview OMIM
Campomelic Dysplasia Tests GeneReview OMIM
Acampomelic Campomelic Dysplasia
Camptodactyly, Tall Stature, and Hearing Loss Syndrome Tests OMIM
Camurati-Engelmann Disease Tests GeneReview OMIM
Ribbing Disease
Canavan Disease Tests GeneReview OMIM
Cancer: Familial/Multiple Cancer (Not Specified) Multi-Gene Panels Tests
Cancer: Hereditary Breast/Ovarian/Uterine Cancer Multi-Gene Panels Tests
Cancer: Hereditary Colorectal Cancer Multi-Gene Panels Tests
Cancer: Lynch Syndrome (Hereditary Non-Polyposis Colon Cancer) Multi-Gene Panels Tests
CARASIL Tests GeneReview OMIM
Cardiofaciocutaneous Syndrome GeneReview OMIM
BRAF-Related Cardiofaciocutaneous Syndrome Tests OMIM
KRAS-Related Cardiofaciocutaneous Syndrome Tests OMIM
MAP2K1-Related Cardiofaciocutaneous Syndrome Tests OMIM
MAP2K2-Related Cardiofaciocutaneous Syndrome Tests OMIM
Cardiomyopathy (Dilated) Multi-Gene Panels
Cardiomyopathy (General) Multi-Gene Panels
Cardiomyopathy (Hypertrophic) Multi-Gene Panels
Cardiomyopathy and Deafness Tests OMIM
Cardiomyopathy with or without Skeletal Myopathy Tests OMIM
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma Tests OMIM
Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE)) Tests OMIM
Cardiovascular Disease Risk Factor (Angiotensin II Receptor, Type 1) Tests OMIM
Cardiovascular Disease Risk Factor (Angiotensinogen) Tests OMIM
Cardiovascular Disease Risk Factor (Apolipoprotein E) Tests OMIM
Cardiovascular Disease Risk Factor (Carotid Intimal Medial Thickness 1) Tests OMIM
Carney Complex Tests GeneReview OMIM
Carnitine Palmitoyltransferase IA Deficiency Tests GeneReview OMIM
Carnitine Palmitoyltransferase II Deficiency Tests GeneReview OMIM
Carnitine-Acylcarnitine Translocase Deficiency Tests OMIM
Carnosinemia Tests OMIM
Carpenter Syndrome 1 Tests OMIM
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders Tests GeneReview OMIM
Anauxetic Dysplasia OMIM
Cartilage-Hair Hypoplasia OMIM
Metaphyseal Dysplasia without Hypotrichosis OMIM
CASK-Related Disorders Tests OMIM
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia OMIM
X-Linked Intellectual Disability with or without Nystagmus OMIM
Caspase 8 Deficiency Tests OMIM
CASR-Related Disorders Tests OMIM
Autosomal Dominant Hypocalcemia OMIM
CASR-Associated Familial Isolated Hypoparathyroidism OMIM
Familial Hypocalciuric Hypercalcemia, Type I OMIM
Neonatal Severe Primary Hyperparathyroidism OMIM
Cat Eye Syndrome Tests OMIM
Cataract, Age-Related Cortical, 2 Tests OMIM
Cataract, Autosomal Dominant, Multiple Types 1 Tests OMIM
Cataract, Autosomal Recessive Congenital 1 Tests OMIM
Cataract, Autosomal Recessive Congenital 2 Tests OMIM
Cataract, Autosomal Recessive Congenital 4 Tests OMIM
Cataract, Autosomal Recessive Congenital 5 Tests OMIM
Cataract, Congenital Nuclear, Autosomal Recessive 2 Tests OMIM
Cataract, Congenital Nuclear, Autosomal Recessive 3 Tests OMIM
Cataract, Congenital, X-linked Tests OMIM
Cataract, Cortical Pulverulent, Late-onset Tests OMIM
Cataract, Lamellar Tests OMIM
Cataract, Polymorphic and Lamellar Tests OMIM
Cataract-Microcornea Syndrome Tests OMIM
Cataracts, Autosomal Dominant OMIM
FOXE3-Related Cataracts, Autosomal Dominant Tests OMIM
Catecholaminergic Polymorphic Ventricular Tachycardia GeneReview OMIM
CALM1-Related Catecholaminergic Polymorphic Ventricular Tachycardia Tests OMIM
CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Tests OMIM
RYR2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Tests OMIM
TRDN-Related Catecholaminergic Polymorphic Ventricular Tachycardia OMIM
Catecholaminergic Polymorphic Ventricular Tachycardia Multi-Gene Panels Tests
CATSPER-Related Male Infertility GeneReview OMIM
CATSPER-Related Nonsyndromic Male Infertility Tests OMIM
Deafness-Infertility Syndrome OMIM
Caudal Dysgenesis Syndrome Tests OMIM
CAV3-Related Sudden Infant Death Syndrome Tests OMIM
cblC Tests OMIM
CDC73-Related Disorders Tests GeneReview OMIM
CDC73-Related Familial Isolated Hyperparathyroidism OMIM
CDC73-Related Parathyroid Carcinoma OMIM
Hyperparathyroidism-Jaw Tumor Syndrome OMIM
CDKL5-Related Angelman-like Syndrome Tests OMIM
Celiac Disease Tests GeneReview OMIM
Central Core Disease Tests GeneReview OMIM
Central Hypothyroidism and Testicular Enlargement Tests OMIM
Central Precocious Puberty Tests OMIM
Centronuclear Myopathy 1 Tests OMIM
Centronuclear Myopathy 2 Tests OMIM
Centronuclear Myopathy 3 Tests OMIM
Centronuclear Myopathy 4 Tests OMIM
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome Tests OMIM
Cerebral Palsy, Spastic Quadriplegic, 1 Tests OMIM
Cerebrooculofacioskeletal Syndrome 1 Tests OMIM
Cerebrotendinous Xanthomatosis Tests GeneReview OMIM
CETP-Related Hyperalphalipoproteinemia Tests OMIM
CFC1-Related Conotruncal Heart Malformations Tests OMIM
CFTR-Related Disorders Tests GeneReview OMIM
Congenital Absence of the Vas Deferens OMIM
Cystic Fibrosis OMIM
Chanarin-Dorfman Syndrome Tests OMIM
Char Syndrome Tests GeneReview OMIM
Charcot-Marie-Tooth Neuropathy GeneReview
Charcot-Marie-Tooth Neuropathy Multi-Gene Panels Tests
Charcot-Marie-Tooth Neuropathy Type 1 GeneReview OMIM
Charcot-Marie-Tooth Neuropathy Type 1A Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 1B Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 1C Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 1D Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 1E Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 1F/2E Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2 GeneReview OMIM
Charcot-Marie-Tooth Neuropathy Type 2A GeneReview OMIM
Charcot-Marie-Tooth Neuropathy Type 2A1 Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2A2 Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2B Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2B1 Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2B2 Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2C Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2E/1F Tests GeneReview OMIM
Charcot-Marie-Tooth Neuropathy Type 2F Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2G OMIM
Charcot-Marie-Tooth Neuropathy Type 2H/2K Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2I/2J Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2L Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2N Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2O Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 2P Tests OMIM
GARS-Associated Axonal Neuropathy Tests GeneReview OMIM
Charcot-Marie-Tooth Neuropathy Type 2D OMIM
Distal Spinal Muscular Atrophy V OMIM
Charcot-Marie-Tooth Neuropathy Type 4 GeneReview OMIM
Charcot-Marie-Tooth Neuropathy Type 4A Tests GeneReview OMIM
Charcot-Marie-Tooth Neuropathy Type 4B1 Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 4B2 Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 4B3
Charcot-Marie-Tooth Neuropathy Type 4C Tests GeneReview OMIM
Charcot-Marie-Tooth Neuropathy Type 4D Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 4E Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 4F Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 4H Tests OMIM
Charcot-Marie-Tooth Neuropathy Type 4J Tests OMIM
Charcot-Marie-Tooth Neuropathy X OMIM
Charcot-Marie-Tooth Neuropathy X Type 1 Tests GeneReview OMIM
Charcot-Marie-Tooth Neuropathy X Type 2 OMIM
Charcot-Marie-Tooth Neuropathy X Type 3 OMIM
Charcot-Marie-Tooth Neuropathy X Type 4 OMIM
Charcot-Marie-Tooth Neuropathy X Type 5 Tests GeneReview OMIM
CHARGE Syndrome Tests GeneReview OMIM
Chediak-Higashi Syndrome Tests GeneReview OMIM
CHEK2-Related Susceptibility to Breast and Colorectal Cancer Tests OMIM
CHEK2-Related Susceptibility to Breast Cancer Tests OMIM
Cherubism Tests GeneReview OMIM
Chilblain Lupus 2 Tests OMIM
Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter GeneReview OMIM
EIF2B1-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Tests OMIM
EIF2B2-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Tests OMIM
EIF2B3-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Tests OMIM
EIF2B4-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Tests OMIM
EIF2B5-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Tests OMIM
Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Multi-Gene Panels Tests
Childhood Restrictive Cardiomyopathy Tests OMIM
Childhood-Onset Reducing Body Myopathy, X-Linked Tests OMIM
Chitotriosidase Deficiency Tests OMIM
Cholestasis, Familial Intrahepatic, of Pregnancy Tests OMIM
Chondrocalcinosis 2 Tests OMIM
Chondrodysplasia Punctata 1, X-Linked Tests GeneReview OMIM
Chondrodysplasia Punctata 2, X-Linked Tests GeneReview OMIM
Chondrodysplasia Punctata, Tibia Metacarpal Type OMIM
Chondrodysplasia with Joint Dislocations, GRAPP Type Tests OMIM
Chondrodysplasia, Blomstrand Type Tests OMIM
Chondrodysplasia, Grebe Type Tests OMIM
Chorea-acanthocytosis Tests GeneReview OMIM
Choroidal Dystrophy, Central Areolar 2 Tests OMIM
Choroideremia Tests GeneReview OMIM
CHRNA1-Related Multiple Pterygium Syndrome, Lethal Type Tests OMIM
CHRND-Related Multiple Pterygium Syndrome, Lethal Type Tests OMIM
CHRNG-Related Disorders Tests OMIM
Escobar Syndrome OMIM
Multiple Pterygium Syndrome OMIM
Multiple Pterygium Syndrome, Lethal Type OMIM
Chromosome Breakage Syndromes Multi-Gene Panels Tests
Chronic Granulomatous Disease GeneReview OMIM
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Negative Tests OMIM
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type I Tests OMIM
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type II Tests OMIM
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type III Tests OMIM
Chronic Granulomatous Disease, X-linked Tests OMIM
Chronic Infantile Neurological Cutaneous and Articular Syndrome Tests OMIM
CHST3-Related Skeletal Dysplasia Tests GeneReview OMIM
Humerospinal Dysostosis OMIM
Larsen Syndrome, Autosomal Recessive OMIM
Spondyloepiphyseal Dysplasia, Omani Type OMIM
Citrin Deficiency Tests GeneReview OMIM
Citrullinemia Type II Tests OMIM
Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency OMIM
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency OMIM
CLCN7-Related Osteopetrosis Tests GeneReview OMIM
Autosomal Dominant Osteopetrosis Type II
Infantile Malignant CLCN7-Related Autosomal Recessive Osteopetrosis
Intermediate Autosomal Osteopetrosis
Cleft Lip +/- Cleft Palate OMIM
Orofacial Cleft 5 Tests OMIM
Orofacial Cleft 6, Susceptibility to Tests OMIM
Orofacial Cleft 8 Tests OMIM
Orofacial Cleft10 Tests OMIM
Orofacial Cleft11 Tests OMIM
Cleft Palate, X-Linked Tests OMIM
Cleidocranial Dysplasia Tests GeneReview OMIM
Cobalamin Metabolism Multi-Gene Panels Tests
Cockayne Syndrome GeneReview OMIM
ERCC6-Related Cockayne Syndrome Tests OMIM
ERCC8-Related Cockayne Syndrome Tests OMIM
Coenzyme Q10 Deficiency Tests OMIM
APTX-Related Coenzyme Q10 Deficiency Tests OMIM
CABC1-Related Coenzyme Q10 Deficiency Tests OMIM
COQ2-Related Coenzyme Q10 Deficiency Tests OMIM
COQ9-Related Coenzyme Q10 Deficiency Tests OMIM
PDSS1-Related Coenzyme Q10 Deficiency Tests OMIM
PDSS2-Related Coenzyme Q10 Deficiency Tests OMIM
Coenzyme Q10 Deficiency Multi-Gene Panels Tests
Coffin-Lowry Syndrome Tests GeneReview OMIM
Coffin-Siris Syndrome GeneReview OMIM
ARID1A-Related Coffin-Siris Syndrome OMIM
ARID1B-Related Coffin-Siris Syndrome Tests OMIM
SMARCA4-Related Coffin-Siris Syndrome OMIM
SMARCB1-Related Coffin-Siris Syndrome Tests OMIM
SMARCE1-Related Coffin-Siris Syndrome OMIM
Cohen Syndrome Tests GeneReview OMIM
COL4A1-Related Disorders Tests GeneReview OMIM
Autosomal Dominant Type 1 Porencephaly OMIM
Brain Small Vessel Disease with Hemorrhage OMIM
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps OMIM
Cold-Induced Sweating Syndrome including Crisponi Syndrome GeneReview OMIM
CLCF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome OMIM
CRLF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome Tests OMIM
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome Tests OMIM
Colon Cancer (APC I1307K related) Tests OMIM
Combined Malonic and Methylmalonic Aciduria Tests OMIM
Combined Oxidative Phosphorylation Deficiency 1 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 10 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 12 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 2 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 3 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 4 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 5 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 6 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 7 Tests OMIM
Combined Oxidative Phosphorylation Deficiency 8 Tests OMIM
Combined Saposin Deficiency Tests OMIM
Common Variable Immune Deficiency GeneReview OMIM
CD19-Related Common Variable Immune Deficiency OMIM
CR2-Related Common Variable Immune Deficiency Tests OMIM
ICOS-Related Common Variable Immune Deficiency Tests OMIM
TNFRSF13B-Related Common Variable Immune Deficiency Tests OMIM
TNFRSF13C-Related Common Variable Immune Deficiency OMIM
Complement Component C2 Deficiency Tests OMIM
Compton-North Congenital Myopathy Tests OMIM
Cone Dystrophy 3 Tests OMIM
Cone-Rod Dystrophy 1 Tests OMIM
Cone-Rod Dystrophy 11 Tests OMIM
Cone-Rod Dystrophy 12 Tests OMIM
Cone-Rod Dystrophy 13 Tests OMIM
Cone-Rod Dystrophy 15 Tests OMIM
Cone-Rod Dystrophy 16 Tests OMIM
Cone-Rod Dystrophy 2 Tests OMIM
Cone-Rod Dystrophy 3 Tests OMIM
Cone-Rod Dystrophy 4 Tests OMIM
Cone-Rod Dystrophy 5 Tests OMIM
Cone-Rod Dystrophy 6 Tests OMIM
Cone-Rod Dystrophy 7 Tests OMIM
Cone-Rod Dystrophy 9 Tests OMIM
Cone-Rod Dystrophy Multi-Gene Panels Tests
Congenital Adrenal Hyperplasia
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Tests OMIM
17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Tests OMIM
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Tests GeneReview OMIM
3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia Tests OMIM
Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia Tests OMIM
Congenital Aural Atresia Tests OMIM
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Tests GeneReview OMIM
Congenital Central Hypoventilation Syndrome Tests GeneReview OMIM
Congenital Contractural Arachnodactyly Tests GeneReview OMIM
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia Tests GeneReview OMIM
Congenital Diaphragmatic Hernia GeneReview OMIM
DIH1-Related Congenital Diaphragmatic Hernia Tests OMIM
Congenital Disorders of Glycosylation Tests GeneReview OMIM
ALG1-CDG (CDG-Ik) Tests OMIM
ALG11-CDG (CDG-Ip) OMIM
ALG12-CDG (CDG-Ig) Tests OMIM
ALG13-CDG OMIM
ALG2-CDG (CDG-Ii) Tests OMIM
ALG3-CDG (CDG-Id) Tests OMIM
ALG6-CDG (CDG-Ic) Tests OMIM
ALG8-CDG (CDG-Ih) Tests OMIM
ALG9-CDG (CDG-IL) Tests OMIM
B4GALT1-CDG (CDG-IId) Tests OMIM
COG1-CDG (CDG-IIg) Tests OMIM
COG4-CDG (CDG-IIj) OMIM
COG5-CDG (CDG-IIi) OMIM
COG6-CDG (CDG-IIL) OMIM
COG7-CDG (CDG-IIe) Tests OMIM
COG8-CDG (CDG-IIh) Tests OMIM
DDOST-CDG (CDG-Ir) Tests OMIM
DOLK-CDG (CDG-Im) Tests OMIM
DPAGT1-CDG (CDG-Ij) Tests OMIM
DPM1-CDG (CDG-Ie) Tests OMIM
DPM2-CDG (CDG-Iu) Tests OMIM
DPM3-CDG (CDG-Io) Tests OMIM
MAGT1-CDG Tests OMIM
MGAT2-CDG (CDG-IIa) Tests OMIM
MOGS-CDG (CDG-IIb) Tests OMIM
MPDU1-CDG (CDG-If) Tests OMIM
MPI-CDG (CDG-Ib) Tests OMIM
PGM1-CDG Tests OMIM
PMM2-CDG (CDG-Ia) Tests GeneReview OMIM
RFT1-CDG (CDG-In) Tests OMIM
SLC35A1-CDG (CDG-IIf) Tests OMIM
SLC35C1-CDG (CDG-IIc) Tests OMIM
SRD5A3-CDG (CDG-Iq) Tests OMIM
TMEM165-CDG (CDG-IIk) Tests OMIM
TUSC3-CDG Tests OMIM
Congenital Disorders of Glycosylation Multi-Gene Panels Tests
Congenital Dyserythropoietic Anemia Type I Tests GeneReview OMIM
Congenital Dyserythropoietic Anemia Type II Tests OMIM
Congenital Erythropoietic Porphyria Tests OMIM
Congenital Fiber-Type Disproportion GeneReview OMIM
ACTA1-Related Congenital Fiber-Type Disproportion Tests OMIM
MYH7-Related Congenital Fiber-Type Disproportion Tests OMIM
RYR1-Related Congenital Fiber-Type Disproportion Tests OMIM
SEPN1-Related Congenital Fiber-Type Disproportion Tests OMIM
TPM2-Related Congenital Fiber-Type Disproportion Tests OMIM
TPM3-Related Congenital Fiber-Type Disproportion Tests OMIM
Congenital Fibrosis of the Extraocular Muscles GeneReview OMIM
Congenital Fibrosis of the Extraocular Muscles 3C OMIM
Congenital Fibrosis of the Extraocular Muscles 4
KIF21A-Related Congenital Fibrosis of the Extraocular Muscles Tests OMIM
Congenital Fibrosis of the Extraocular Muscles 1A OMIM
Congenital Fibrosis of the Extraocular Muscles 3B OMIM
PHOX2A-Related Congenital Fibrosis of the Extraocular Muscles Tests OMIM
Congenital Fibrosis of the Extraocular Muscles 2 OMIM
TUBB3-Related Congenital Fibrosis of the Extraocular Muscles Tests OMIM
Congenital Fibrosis of the Extraocular Muscles 1B OMIM
Congenital Fibrosis of the Extraocular Muscles 3A OMIM
Tukel Syndrome OMIM
Congenital Generalized Lipodystrophy Type 3 Tests OMIM
Congenital Generalized Lipodystrophy Type 4 Tests OMIM
Congenital Hepatic Fibrosis GeneReview
Congenital Hypomyelinating Neuropathy Tests OMIM
Congenital Hypothyroidism Tests OMIM
Congenital Hypothyroidism, DUOX2-Related Tests OMIM
Congenital Hypothyroidism, IYD-Related Tests OMIM
Congenital Hypothyroidism, Nongoitrous 1 Tests OMIM
Congenital Hypothyroidism, Nongoitrous 2 Tests OMIM
Congenital Hypothyroidism, Nongoitrous 4 Tests OMIM
Congenital Hypothyroidism, TPO-Related Tests OMIM
Congenital Indifference to Pain, Autosomal Recessive Tests OMIM
Congenital Lactase Deficiency Tests OMIM
Congenital Malabsorptive Diarrhea 4 Tests OMIM
Congenital Muscular Dystrophy GeneReview OMIM
CHKB-Related Muscle Diseases Tests OMIM
Congenital Muscular Dystrophy, Megaconial Type OMIM
Collagen Type VI-Related Disorders Tests GeneReview OMIM
Autosomal Recessive Myosclerosis Myopathy
Bethlem Myopathy OMIM
Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy
Ullrich Congenital Muscular Dystrophy OMIM
Congenital Muscular Dystrophy due to Integrin Alpha-7 Deficiency Tests OMIM
FKRP-Related Muscle Diseases Tests OMIM
FKTN-Related Muscle Diseases Tests OMIM
GTDC2-Related Muscle Diseases Tests OMIM
Walker-Warburg Syndrome OMIM
ISPD-Related Muscle Diseases Tests OMIM
Muscle-Eye-Brain Disease OMIM
Walker-Warburg Syndrome OMIM
LAMA2-Related Muscular Dystrophy Tests GeneReview OMIM
LARGE-Related Muscle Diseases Tests OMIM
Walker-Warburg Syndrome OMIM
LMNA-Related Muscle Diseases Tests OMIM
POMGNT1-Related Muscle Diseases Tests OMIM
POMT1-Related Muscle Diseases Tests OMIM
POMT2-Related Muscle Diseases Tests OMIM
SEPN1-Related Myopathy Tests OMIM
Congenital Muscular Dystrophy Multi-Gene Panels Tests
Congenital Myasthenic Syndrome with Tubular Aggregates 2 Tests OMIM
Congenital Myasthenic Syndromes GeneReview OMIM
AGRN-Related Congenital Myasthenic Syndrome Tests OMIM
CHAT-Related Congenital Myasthenic Syndrome Tests OMIM
CHRNA1-Related Congenital Myasthenic Syndrome Tests OMIM
CHRNB1-Related Congenital Myasthenic Syndrome Tests OMIM
CHRND-Related Congenital Myasthenic Syndrome Tests OMIM
CHRNE-Related Congenital Myasthenic Syndrome Tests OMIM
COLQ-Related Congenital Myasthenic Syndrome Tests OMIM
DOK7-Related Congenital Myasthenic Syndrome Tests OMIM
GFPT1-Related Congenital Myasthenic Syndrome Tests OMIM
MUSK-Related Congenital Myasthenic Syndrome Tests OMIM
RAPSN-Related Congenital Myasthenic Syndrome Tests OMIM
SCN4A-Related Congenital Myasthenic Syndrome Tests OMIM
Congenital Myasthenic Syndromes Multi-Gene Panels Tests
Congenital Neuromuscular Disease with Uniform Type 1 Fiber Tests OMIM
Congenital Nystagmus 6, X-Linked Tests OMIM
Congenital Primary Aphakia Tests OMIM
Congenital Stationary Night Blindness Multi-Gene Panels Tests
Congenital Stationary Night Blindness, Autosomal Dominant 1 Tests OMIM
Congenital Stationary Night Blindness, Autosomal Dominant 2 Tests OMIM
Congenital Stationary Night Blindness, Autosomal Dominant 3 Tests OMIM
Congenital Stationary Night Blindness, Type 1B Tests OMIM
Congenital Stationary Night Blindness, Type 1C Tests OMIM
Congenital Stationary Night Blindness, Type 1D Tests OMIM
Congenital Stationary Night Blindness, Type 1E Tests OMIM
Congenital Stationary Night Blindness, Type 1F Tests OMIM
Congenital Stationary Night Blindness, Type 2B Tests OMIM
Congenital Stationary Night Blindness, X-Linked GeneReview OMIM
CACNA1F-Related X-Linked Congenital Stationary Night Blindness Tests OMIM
NYX-Related X-Linked Congenital Stationary Night Blindness Tests OMIM
Congenital Stromal Corneal Dystrophy Tests GeneReview OMIM
Congenital Sucrase-Isomaltase Deficiency Tests OMIM
Corneal Dystrophy of Bowman Layer, Type 1 Tests OMIM
Corneal Dystrophy, Epithelial Basement Membrane Tests OMIM
Corneal Endothelial Dystrophy 2, Autosomal Recessive Tests OMIM
Cornelia de Lange Syndrome GeneReview OMIM
HDAC8-Related Cornelia de Lange Syndrome Tests OMIM
NIPBL-Related Cornelia de Lange Syndrome Tests OMIM
RAD21-Related Cornelia de Lange Syndrome Tests OMIM
SMC1A-Related Cornelia de Lange Syndrome Tests OMIM
SMC3-Related Cornelia de Lange Syndrome Tests OMIM
Cortical Dysplasia, Complex, with Other Brain Malformations Tests OMIM
Cortical Dysplasia-Focal Epilepsy Syndrome Tests OMIM
Corticosterone Methyloxidase Type I Deficiency Tests OMIM
Corticosterone Methyloxidase Type II Deficiency Tests OMIM
Costello Syndrome Tests GeneReview OMIM
CR2-Related Susceptibility to Systemic Lupus Erythematosus Tests OMIM
Craniodiaphyseal Dysplasia OMIM
Cranioectodermal Dysplasia OMIM
Cranioectodermal Dysplasia 1 Tests OMIM
Cranioectodermal Dysplasia 2 Tests OMIM
Cranioectodermal Dysplasia 3 Tests OMIM
Cranioectodermal Dysplasia 4 Tests OMIM
Craniofacial Microsomia GeneReview OMIM
Facio-auriculo-vertebral Syndrome
First and Second Branchial Arch Syndrome
Goldenhar Syndrome
Hemifacial Microsomia
Lateral Facial Dysplasia
Microtia
Oculo-auriculo-vertebral Spectrum
Otomandibular Dysostosis
Craniofacial-Deafness-Hand Syndrome Tests OMIM
Craniofrontonasal Syndrome Tests OMIM
Craniometaphyseal Dysplasia, Autosomal Dominant Tests GeneReview OMIM
Craniosynostosis and Dental Anomalies Tests OMIM
Creatine Deficiency Syndromes GeneReview OMIM
Guanidinoacetate Methyltransferase Deficiency Tests OMIM
L-Arginine:Glycine Amidinotransferase Deficiency Tests OMIM
SLC6A8-Related Creatine Transporter Deficiency Tests OMIM
Cri du Chat Syndrome Tests OMIM
Crigler-Najjar Syndrome Tests OMIM
Crigler-Najjar Syndrome, Type I OMIM
Crigler-Najjar Syndrome, Type II OMIM
Crohn Disease Tests OMIM
CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids Tests GeneReview OMIM
Currarino Syndrome Tests OMIM
Cutaneous Malignant Melanoma OMIM
CDK4-Related Cutaneous Malignant Melanoma Tests OMIM
CDKN2A-Related Cutaneous Malignant Melanoma Tests OMIM
Cystathioninuria Tests OMIM
Cystinosis Tests GeneReview OMIM
Intermediate Cystinosis OMIM
Nephropathic Cystinosis OMIM
Non-Nephropathic Cystinosis OMIM
Cystinuria Tests OMIM
Cytochrome P450 Oxidoreductase Deficiency Tests GeneReview OMIM
Antley-Bixler Syndrome OMIM
Congenital Adrenal Hyperplasia due to Apparent Combined P450c17 and P450c21 Deficiency OMIM
D-2-Hydroxyglutaric Aciduria 1 Tests OMIM
D-2-Hydroxyglutaric Aciduria 2 Tests OMIM
D-Glycericacidemia Tests OMIM
Danon Disease Tests OMIM
Dappled Diaphyseal Dysplasia
Darier-White Disease Tests OMIM
DCX-Related Disorders Tests GeneReview OMIM
DCX-Related Lissencephaly
DCX-Related Subcortical Band Heterotopia
Deafness-Dystonia-Optic Neuronopathy Syndrome Tests GeneReview OMIM
Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II GeneReview OMIM
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Tests OMIM
CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Tests OMIM
Dent Disease GeneReview OMIM
Dent Disease 1 Tests OMIM
Dent Disease 2 Tests OMIM
Dentin Dysplasia, Type II Tests OMIM
Dentinogenesis Imperfecta 1 Tests OMIM
Dentinogenesis Imperfecta, Shields Type III Tests OMIM
Desbuquois Dysplasia Tests OMIM
Desmosterolosis Tests OMIM
Diabetes Mellitus, 6q24-Related Transient Neonatal Tests GeneReview OMIM
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Tests OMIM
Diabetes Mellitus, KCNJ11-Related Transient Neonatal Tests OMIM
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Tests OMIM
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Tests OMIM
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis Tests OMIM
Diamond-Blackfan Anemia GeneReview OMIM
GATA1-Related Diamond-Blackfan Anemia OMIM
RPL11-Related Diamond-Blackfan Anemia Tests OMIM
RPL26-Related Diamond-Blackfan Anemia OMIM
RPL35A-Related Diamond-Blackfan Anemia Tests OMIM
RPL5-Related Diamond-Blackfan Anemia Tests OMIM
RPS10-Related Diamond-Blackfan Anemia Tests OMIM
RPS17-Related Diamond-Blackfan Anemia Tests OMIM
RPS19-Related Diamond-Blackfan Anemia Tests OMIM
RPS24-Related Diamond-Blackfan Anemia Tests OMIM
RPS26-Related Diamond-Blackfan Anemia Tests OMIM
RPS7-Related Diamond-Blackfan Anemia Tests OMIM
Diamond-Blackfan Anemia Multi-Gene Panels Tests
Diaphanospondylodysostosis Tests OMIM
Diaphragmatic Hernia 3 Tests OMIM
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma Tests OMIM
Diarrhea with Microvillus Atrophy 2 Tests OMIM
Dicarboxylicaminoaciduria Tests OMIM
Dihydropyrimidinase Deficiency Tests OMIM
Dihydropyrimidine Dehydrogenase Deficiency OMIM
Dilated Cardiomyopathy GeneReview OMIM
ABCC9-Related Dilated Cardiomyopathy Tests OMIM
ACTC1-Related Dilated Cardiomyopathy Tests OMIM
ACTN2-Related Dilated Cardiomyopathy Tests OMIM
ANKRD1-Related Dilated Cardiomyopathy Tests OMIM
BAG3-Related Dilated Cardiomyopathy Tests OMIM
CSRP3-Related Dilated Cardiomyopathy Tests OMIM
DES-Related Dilated Cardiomyopathy Tests OMIM
DMD-Related Dilated Cardiomyopathy Tests OMIM
DSG2-Related Dilated Cardiomyopathy Tests OMIM
EYA4-Related Dilated Cardiomyopathy Tests OMIM
FKTN-Related Dilated Cardiomyopathy Tests OMIM
LDB3-Related Dilated Cardiomyopathy Tests OMIM
LMNA-Related Dilated Cardiomyopathy Tests GeneReview OMIM
MYBPC3-Related Dilated Cardiomyopathy Tests OMIM
MYH6-Related Dilated Cardiomyopathy Tests OMIM
MYH7-Related Dilated Cardiomyopathy Tests OMIM
NEXN-Related Dilated Cardiomyopathy Tests OMIM
PLN-Related Dilated Cardiomyopathy Tests OMIM
PSEN1-Related Dilated Cardiomyopathy Tests OMIM
PSEN2-Related Dilated Cardiomyopathy Tests OMIM
RBM20-Related Dilated Cardiomyopathy Tests OMIM
SCN5A-Related Dilated Cardiomyopathy Tests OMIM
SGCD-Related Dilated Cardiomyopathy Tests OMIM
TAZ-Related Dilated Cardiomyopathy Tests OMIM
TCAP-Related Dilated Cardiomyopathy Tests OMIM
TMPO-Related Dilated Cardiomyopathy Tests OMIM
TNNC1-Related Dilated Cardiomyopathy Tests OMIM
TNNI3-Related Dilated Cardiomyopathy Tests OMIM
TNNT2-Related Dilated Cardiomyopathy Tests OMIM
TPM1-Related Dilated Cardiomyopathy Tests OMIM
TTN-Related Dilated Cardiomyopathy Tests OMIM
VCL-Related Dilated Cardiomyopathy Tests OMIM
Dilated Cardiomyopathy with Quadriceps Myopathy Tests OMIM
Disorders of Intracellular Cobalamin Metabolism GeneReview OMIM
cbIJ Tests OMIM
cblC Tests OMIM
cblD Tests OMIM
cblD (variant 1) Tests OMIM
cblD (variant 2) Tests OMIM
cblE Tests OMIM
cblF Tests OMIM
cblG Tests OMIM
Distal Congenital Nonprogressive Spinal Muscular Atrophy Tests OMIM
Distal Hereditary Motor Neuronopathy Type VIIB Tests OMIM
Distal Hereditary Motor Neuronopathy, Type IIA Tests OMIM
Distal Hereditary Motor Neuronopathy, Type IIB Tests OMIM
Distal Hereditary Motor Neuronopathy, Type IIC Tests OMIM
Distal Myopathy 2 Tests OMIM
Distal Myopathy 4 Tests OMIM
Distal Renal Tubular Acidosis with Progressive Nerve Deafness Tests OMIM
Distal Spinal Muscular Atrophy 4 Tests OMIM
DNASE1-Related Susceptibility to Systemic Lupus Erythematosus Tests OMIM
DNMT1-Related Dementia, Deafness, and Sensory Neuropathy Tests GeneReview OMIM
DOK7-Related Fetal Akinesia Deformation Sequence Tests OMIM
Donnai-Barrow Syndrome Tests GeneReview OMIM
Donohue Syndrome Tests OMIM
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency Tests OMIM
Dopa-Responsive Dystonia Multi-Gene Panels Tests
Dopamine Beta-Hydroxylase Deficiency Tests GeneReview OMIM
Doyne Honeycomb Retinal Dystrophy Tests OMIM
DRPLA Tests GeneReview OMIM
Duane Syndrome GeneReview OMIM
Duane Retraction Syndrome 1 OMIM
Duane Retraction Syndrome 2 Tests OMIM
Dubin-Johnson Syndrome Tests OMIM
DWS-Related Dandy Walker Syndrome Tests OMIM
Dyggve-Melchior-Clausen Syndrome Tests OMIM
Dysalbuminemic Hyperthyroxinemia Tests OMIM
Dyschromatosis Symmetrica Hereditaria 1 Tests OMIM
Dyskeratosis Congenita GeneReview OMIM
DKC1-Related Dyskeratosis Congenita Tests OMIM
NHP2-Related Dyskeratosis Congenita Tests OMIM
NOP10-Related Dyskeratosis Congenita Tests OMIM
TERC-Related Dyskeratosis Congenita Tests OMIM
TERT-Related Dyskeratosis Congenita Tests OMIM
TINF2-Related Dyskeratosis Congenita Tests OMIM
WRAP53-Related Dyskeratosis Congenita Tests OMIM
Dyskeratosis Congenita Multi-Gene Panels Tests
Dyssegmental Dysplasia, Rolland-Desbuquois Type OMIM
Dyssegmental Dysplasia, Silverman-Handmaker Type Tests OMIM
Dystonia GeneReview
Dystonia 16 Tests OMIM
Dystonia 6 Tests OMIM
Dystonia, Juvenile-Onset Tests OMIM
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Tests GeneReview OMIM
Dystrophic Epidermolysis Bullosa Tests GeneReview OMIM
Dominant Dystrophic Epidermolysis Bullosa
Recessive Dystrophic Epidermolysis Bullosa
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Other
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe OMIM
Dystrophinopathies Tests GeneReview OMIM
Becker Muscular Dystrophy
DMD-Associated Dilated Cardiomyopathy OMIM
Duchenne Muscular Dystrophy