| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001916 |
BXGD000089 |
Albinism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0002986 |
BXGD000165 |
Fabry Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006111 |
BXGD000369 |
Brain Diseases |
Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007682 |
BXGD000471 |
CNS disorder |
Nervous System Diseases |
| C0009918 |
BXGD000636 |
Contracture of joint |
Musculoskeletal Diseases |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011991 |
BXGD000766 |
Diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0016667 |
BXGD001072 |
Fragile X Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0017921 |
BXGD001152 |
Glycogen storage disease type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018824 |
BXGD001237 |
Heart valve disease |
Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020437 |
BXGD001381 |
Hypercalcemia |
Nutritional and Metabolic Diseases |
| C0020555 |
BXGD001431 |
Hypertrichosis |
Skin and Connective Tissue Diseases |
| C0021847 |
BXGD001523 |
Intestinal Pseudo-Obstruction |
Digestive System Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023522 |
BXGD001680 |
Leukodystrophy, Metachromatic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026697 |
BXGD001918 |
Mucolipidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0026703 |
BXGD001919 |
Mucopolysaccharidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0026705 |
BXGD001920 |
Mucopolysaccharidosis II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0026706 |
BXGD001921 |
Mucopolysaccharidosis III |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0026707 |
BXGD001922 |
Mucopolysaccharidosis IV |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0026709 |
BXGD001924 |
Mucopolysaccharidosis VI |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0027059 |
BXGD001965 |
Myocarditis |
Cardiovascular Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027746 |
BXGD002032 |
Nerve Degeneration |
Pathological Conditions, Signs and Symptoms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0030353 |
BXGD002213 |
Papilledema |
Eye Diseases; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035243 |
BXGD002522 |
Respiratory Tract Infections |
Infections; Respiratory Tract Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037315 |
BXGD002687 |
Sleep Apnea Syndromes |
Respiratory Tract Diseases; Nervous System Diseases |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038436 |
BXGD002755 |
Post-Traumatic Stress Disorder |
Mental Disorders |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0038644 |
BXGD002776 |
Sudden infant death syndrome |
Pathological Conditions, Signs and Symptoms |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0079588 |
BXGD003084 |
Ichthyosis, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0085278 |
BXGD003150 |
Antiphospholipid Syndrome |
Immune System Diseases |
| C0085612 |
BXGD003204 |
Ventricular arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0085635 |
BXGD003217 |
Photopsia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086132 |
BXGD003264 |
Depressive Symptoms |
Behavior and Behavior Mechanisms |
| C0086647 |
BXGD003298 |
Mucopolysaccharidosis Type IIIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0086651 |
BXGD003302 |
Mucopolysaccharidosis, MPS-IV-A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0086795 |
BXGD003311 |
Pfaundler-Hurler Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0154575 |
BXGD003722 |
Rumination Disorders |
Mental Disorders |
| C0178417 |
BXGD004025 |
Anhedonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0221055 |
BXGD004382 |
Paramyotonia Congenita (disorder) |
Musculoskeletal Diseases; Nervous System Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0221373 |
BXGD004454 |
Claw hand |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0241654 |
BXGD005104 |
Abnormal heart valve morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265534 |
BXGD005543 |
Scaphycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0268287 |
BXGD005884 |
Deficiency of steroid 21-monooxygenase |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0271708 |
BXGD006244 |
Fasting Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0340231 |
BXGD007309 |
Tracheobronchomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases |
| C0342751 |
BXGD007542 |
Generalized glycogen storage disease of infants |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0342791 |
BXGD007554 |
Carnitine-Acylcarnitine Translocase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0342841 |
BXGD007560 |
Hunter's syndrome, severe form |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0342842 |
BXGD007561 |
Hunter's syndrome, mild form |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0374997 |
BXGD007967 |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site |
|
| C0410203 |
BXGD008417 |
X-linked centronuclear myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0520679 |
BXGD009101 |
Sleep Apnea, Obstructive |
Respiratory Tract Diseases; Nervous System Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0522274 |
BXGD009200 |
Humoral immune defect |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0677886 |
BXGD009734 |
Epithelial ovarian cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0679047 |
BXGD009758 |
perseverative thinking |
|
| C0747085 |
BXGD010158 |
Recurrent otitis media |
Otorhinolaryngologic Diseases |
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0852654 |
BXGD010947 |
21-hydroxylase deficiency |
|
| C0852866 |
BXGD010954 |
Cervical cord compression |
Nervous System Diseases; Wounds and Injuries |
| C0947785 |
BXGD011495 |
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) |
|
| C1096378 |
BXGD011619 |
Near sudden infant death syndrome |
|
| C1142166 |
BXGD011736 |
Brugada Syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1313952 |
BXGD012383 |
Respiration intermittent |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1536075 |
BXGD013333 |
Sudden unexplained death in epilepsy |
|
| C1560249 |
BXGD013361 |
Adverse Event Associated with Cardiac Arrhythmia |
|
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1720983 |
BXGD013698 |
Channelopathies |
Pathological Conditions, Signs and Symptoms |
| C1832615 |
BXGD013864 |
HYPERPARATHYROIDISM, NEONATAL SEVERE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases |
| C1833661 |
BXGD013935 |
PAROXYSMAL EXTREME PAIN DISORDER |
Pathological Conditions, Signs and Symptoms |
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1844813 |
BXGD014679 |
Widely spaced teeth |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1854774 |
BXGD015429 |
Dermatan sulfate excretion in urine |
|
| C1854827 |
BXGD015436 |
Heparan sulfate excretion in urine |
|
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1862382 |
BXGD016125 |
SVEINSSON CHORIORETINAL ATROPHY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C2718304 |
BXGD017529 |
Sulfoiduronate Sulfatase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C2720163 |
BXGD017530 |
Placental Steroid Sulfatase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C2936858 |
BXGD018147 |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C3150077 |
BXGD018291 |
Mild short stature |
|
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4025598 |
BXGD021686 |
Urinary glycosaminoglycan excretion |
|
| C4552512 |
BXGD023512 |
Neurocognitive deficit |
|
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |