| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002793 |
BXGD000130 |
Anaplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0003537 |
BXGD000208 |
Aphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004158 |
BXGD000261 |
Athetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0008370 |
BXGD000534 |
Cholestasis |
Digestive System Diseases |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009024 |
BXGD000578 |
Clonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0013132 |
BXGD000799 |
Drooling |
Stomatognathic Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015732 |
BXGD001018 |
Fecal Incontinence |
Digestive System Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0018536 |
BXGD001201 |
Hallux Valgus |
Musculoskeletal Diseases |
| C0020550 |
BXGD001429 |
Hyperthyroidism |
Endocrine System Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023787 |
BXGD001698 |
Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0024043 |
BXGD001728 |
Low T3 Syndrome |
Endocrine System 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 |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037772 |
BXGD002703 |
Spastic Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040128 |
BXGD002844 |
Thyroid Diseases |
Endocrine System Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0040156 |
BXGD002849 |
Thyrotoxicosis |
Endocrine System Diseases |
| C0042024 |
BXGD002949 |
Urinary Incontinence |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0221163 |
BXGD004395 |
Motor Disorders |
Mental Disorders |
| C0221505 |
BXGD004466 |
Lesion of brain |
|
| C0234133 |
BXGD004624 |
Extrapyramidal sign |
|
| C0235909 |
BXGD004786 |
Impaired psychomotor development |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0240414 |
BXGD005035 |
Hypoplasia of muscle |
|
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0266623 |
BXGD005702 |
Congenital anomaly of neck |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270971 |
BXGD006146 |
Floppy infant syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0343239 |
BXGD007611 |
Benign congenital hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0497552 |
BXGD009067 |
Congenital neurologic anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0586553 |
BXGD009609 |
Raised TSH level |
Endocrine System Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0751265 |
BXGD010370 |
Learning Disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0752210 |
BXGD010697 |
Dyskinesias, Paroxysmal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0795889 |
BXGD010759 |
Allan-Herndon-Dudley syndrome (AHDS) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0857516 |
BXGD011153 |
Floppy |
|
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1280433 |
BXGD012125 |
Lipoatrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1389113 |
BXGD012965 |
Generalized amyotrophy |
|
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1837463 |
BXGD014235 |
Narrow face |
|
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1839888 |
BXGD014424 |
Decreased activity of the pyruvate dehydrogenase complex |
|
| C1845272 |
BXGD014735 |
Prominent antihelix |
|
| C1845274 |
BXGD014736 |
Abnormal conjugate eye movement |
|
| C1846149 |
BXGD014786 |
Intellectual disability, progressive |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854919 |
BXGD015442 |
Severe psychomotor retardation |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| 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 |
| C1862095 |
BXGD016100 |
Bilateral single transverse palmar creases |
|
| C1862689 |
BXGD016136 |
Stahl ear |
|
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2940786 |
BXGD018184 |
Thyroid Hormone Resistance Syndrome |
Endocrine System Diseases |
| C3649644 |
BXGD019251 |
Congenital condition |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021242 |
BXGD020592 |
Hypoplasia of the zygomatic bone |
|
| C4021758 |
BXGD020761 |
Delayed CNS myelination |
|
| C4024655 |
BXGD021359 |
Underfolded superior helices |
|
| C4274084 |
BXGD022344 |
Pelizaeus Merzbacher like disease |
|
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4722330 |
BXGD023801 |
Generalized Thyroid Hormone Resistance |
Endocrine System Diseases |