| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004158 |
BXGD000261 |
Athetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0009777 |
BXGD000630 |
Conn Adenoma |
Neoplasms; Endocrine System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010481 |
BXGD000673 |
Cushing Syndrome |
Endocrine System Diseases |
| C0010520 |
BXGD000675 |
Cyanosis |
Pathological Conditions, Signs and Symptoms |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013390 |
BXGD000828 |
Dysmenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0014175 |
BXGD000904 |
Endometriosis |
Female Urogenital Diseases and Pregnancy Complications |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0018418 |
BXGD001192 |
Gynecomastia |
Skin and Connective Tissue Diseases |
| C0020758 |
BXGD001467 |
Congenital ichthyosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0025322 |
BXGD001863 |
Premature Menopause |
Female Urogenital Diseases and Pregnancy Complications |
| C0025637 |
BXGD001879 |
Methemoglobinemia |
Hemic and Lymphatic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0034186 |
BXGD002469 |
Pyelonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035222 |
BXGD002513 |
Respiratory Distress Syndrome, Adult |
Respiratory Tract Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037274 |
BXGD002676 |
Dermatologic disorders |
Skin and Connective Tissue Diseases |
| C0079154 |
BXGD003065 |
Congenital Nonbullous Ichthyosiform Erythroderma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0079583 |
BXGD003082 |
Ichthyosiform Erythroderma, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0085215 |
BXGD003141 |
Ovarian Failure, Premature |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0151639 |
BXGD003452 |
Decreased fertility in females |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0151640 |
BXGD003453 |
Decreased fertility in males |
Male Urogenital Diseases |
| C0206667 |
BXGD004228 |
Adrenal Cortical Adenoma |
Neoplasms; Endocrine System Diseases |
| C0220724 |
BXGD004332 |
CONSTRICTING BANDS, CONGENITAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0232939 |
BXGD004568 |
Primary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0238395 |
BXGD004922 |
Male Pseudohermaphroditism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0241011 |
BXGD005073 |
Low serum estradiol levels |
|
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0241816 |
BXGD005115 |
Global brain atrophy |
|
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266399 |
BXGD005663 |
Infantile uterus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0268285 |
BXGD005883 |
Adrenal hyperplasia, congenital, type 5 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0269102 |
BXGD006053 |
Endometrioma |
Female Urogenital Diseases and Pregnancy Complications |
| C0272087 |
BXGD006303 |
Congenital Methemoglobinemia |
Hemic and Lymphatic Diseases |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0341787 |
BXGD007422 |
Bifid scrotum |
|
| C0342443 |
BXGD007481 |
Adrenal Cushing's syndrome |
Endocrine System Diseases |
| C0345309 |
BXGD007725 |
Hypoplasia of vagina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751093 |
BXGD010317 |
Dystonia, Limb |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0853087 |
BXGD010964 |
Nail abnormality |
Pathological Conditions, Signs and Symptoms |
| C0854373 |
BXGD011017 |
Lip discoloration |
|
| C0948896 |
BXGD011563 |
Primary hypogonadism |
Endocrine System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1291557 |
BXGD012217 |
Deficiency of lyase |
|
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1848178 |
BXGD014909 |
Female external genitalia in individual with 46,XY karyotype |
|
| C1858573 |
BXGD015809 |
Sparse pubic hair |
|
| C1858574 |
BXGD015810 |
Sparse axillary hair |
|
| C1859014 |
BXGD015843 |
Primary gonadal insufficiency |
|
| C1862863 |
BXGD016138 |
Sparse body hair |
|
| C2673427 |
BXGD017201 |
METHEMOGLOBINEMIA TYPE IV |
Hemic and Lymphatic Diseases |
| C2677328 |
BXGD017371 |
Cerebral hypomyelination |
|
| C2749559 |
BXGD017623 |
Methemoglobinemia, Type I |
Hemic and Lymphatic Diseases |
| C2749560 |
BXGD017624 |
Methemoglobinemia, Type Ii |
Hemic and Lymphatic Diseases |
| C2751824 |
BXGD017742 |
46, XY Disorders of Sex Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3665425 |
BXGD019286 |
Hemoglobin M Disease |
Hemic and Lymphatic Diseases |
| C4021550 |
BXGD020666 |
Elevated circulating follicle stimulating hormone level |
|
| C4021551 |
BXGD020667 |
Absence of secondary sex characteristics |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4021823 |
BXGD020808 |
Ambiguous genitalia, male |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C4022769 |
BXGD020994 |
Small basal ganglia |
|
| C4022996 |
BXGD021057 |
Abnormal sex determination |
|
| C4023101 |
BXGD021106 |
Elevated circulating luteinizing hormone level |
|
| C4024641 |
BXGD021355 |
Enlarged polycystic ovaries |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4024936 |
BXGD021486 |
Temporal cortical atrophy |
|
| C4024965 |
BXGD021506 |
Frontal cortical atrophy |
|
| C4073137 |
BXGD022045 |
Decreased serum testosterone level |
|
| C4285231 |
BXGD022444 |
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA |
|