| C0001857 |
BXGD000085 |
AIDS related complex |
Infections; Immune System Diseases |
| C0001948 |
BXGD000091 |
Alcohol consumption |
Behavior and Behavior Mechanisms |
| C0003028 |
BXGD000170 |
Anhidrosis |
Skin and Connective Tissue Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004238 |
BXGD000262 |
Atrial Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006625 |
BXGD000401 |
Cachexia |
Pathological Conditions, Signs and Symptoms |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007107 |
BXGD000428 |
Malignant neoplasm of larynx |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0007114 |
BXGD000431 |
Malignant neoplasm of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007120 |
BXGD000435 |
Bronchioloalveolar Adenocarcinoma |
Neoplasms |
| C0007787 |
BXGD000487 |
Transient Ischemic Attack |
Nervous System Diseases; Cardiovascular Diseases |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009763 |
BXGD000628 |
Conjunctivitis |
Eye Diseases |
| C0009918 |
BXGD000636 |
Contracture of joint |
Musculoskeletal Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013592 |
BXGD000857 |
Ectropion |
Eye Diseases |
| C0014175 |
BXGD000904 |
Endometriosis |
Female Urogenital Diseases and Pregnancy Complications |
| C0014390 |
BXGD000913 |
Entropion |
Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016689 |
BXGD001073 |
Freckles |
Skin and Connective Tissue Diseases |
| C0017154 |
BXGD001097 |
Gastritis, Atrophic |
Digestive System Diseases |
| C0017639 |
BXGD001133 |
Gliosis |
Pathological Conditions, Signs and Symptoms |
| C0017921 |
BXGD001152 |
Glycogen storage disease type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0018273 |
BXGD001189 |
Growth Disorders |
Pathological Conditions, Signs and Symptoms |
| C0018553 |
BXGD001203 |
Hamartoma Syndrome, Multiple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020258 |
BXGD001371 |
Hydrocephalus, Normal Pressure |
Nervous System Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0022568 |
BXGD001552 |
Keratitis |
Eye Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0024636 |
BXGD001793 |
Malocclusion |
Stomatognathic Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025322 |
BXGD001863 |
Premature Menopause |
Female Urogenital Diseases and Pregnancy Complications |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026640 |
BXGD001912 |
Mouth Neoplasms |
Neoplasms; Stomatognathic Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; 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 |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028949 |
BXGD002100 |
Oligomenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0028968 |
BXGD002103 |
Olivopontocerebellar Atrophies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029925 |
BXGD002181 |
Ovarian Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0033300 |
BXGD002403 |
Progeria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0033922 |
BXGD002440 |
Psychomotor Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039446 |
BXGD002811 |
Telangiectasis |
Cardiovascular Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0043346 |
BXGD003043 |
Xeroderma Pigmentosum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0085215 |
BXGD003141 |
Ovarian Failure, Premature |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0085583 |
BXGD003194 |
Choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151514 |
BXGD003429 |
Atrophic condition of skin |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0158113 |
BXGD003875 |
Contracture of joint of hand |
Musculoskeletal Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0220722 |
BXGD004331 |
Cerebrooculofacioskeletal Syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0231341 |
BXGD004492 |
Premature aging syndrome |
Pathological Conditions, Signs and Symptoms |
| C0232940 |
BXGD004569 |
Secondary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0235357 |
BXGD004742 |
Hypoplasia of teeth |
Digestive System Diseases; Stomatognathic Diseases |
| C0235857 |
BXGD004778 |
Decreased lacrimation |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0239137 |
BXGD004965 |
Coxa valga |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239761 |
BXGD004990 |
Gonadal hypoplasia |
|
| C0240912 |
BXGD005062 |
Vertical Talus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0265201 |
BXGD005460 |
De Sanctis-Cacchione syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0268138 |
BXGD005833 |
Xeroderma Pigmentosum, Complementation Group D |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0271160 |
BXGD006166 |
Cortical cataract |
Eye Diseases |
| C0277960 |
BXGD006488 |
Dry hair |
|
| C0278996 |
BXGD006621 |
Malignant Head and Neck Neoplasm |
Neoplasms |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0312420 |
BXGD006887 |
Hypersexuality state |
Mental Disorders; Behavior and Behavior Mechanisms |
| C0344539 |
BXGD007690 |
Hypoplasia of iris |
Eye Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0349506 |
BXGD007912 |
Photosensitivity of skin |
Skin and Connective Tissue Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0392557 |
BXGD008056 |
Nuclear cataract |
Eye Diseases |
| C0392777 |
BXGD008068 |
Poikiloderma |
Pathological Conditions, Signs and Symptoms |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0409338 |
BXGD008381 |
Flexion contracture - elbow |
|
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0424230 |
BXGD008522 |
Motor retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0425957 |
BXGD008555 |
Secondary amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0496920 |
BXGD009049 |
Neoplasm of uncertain or unknown behavior of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0520680 |
BXGD009102 |
Sleep Apnea, Central |
Respiratory Tract Diseases; Nervous System Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0522214 |
BXGD009196 |
Abnormal visual evoked potential |
Nervous System Diseases |
| C0522216 |
BXGD009197 |
Abnormal auditory evoked potential |
|
| C0524524 |
BXGD009228 |
Pseudoaphakia |
Eye Diseases |
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0578038 |
BXGD009542 |
Thin lips |
|
| C0595989 |
BXGD009632 |
Carcinoma of larynx |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0699893 |
BXGD009871 |
Skin carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0740392 |
BXGD009988 |
Infarction, Middle Cerebral Artery |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0751037 |
BXGD010300 |
Cockayne Syndrome, Type III |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0751038 |
BXGD010301 |
Cockayne Syndrome, Type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0751039 |
BXGD010302 |
Cockayne Syndrome, Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0751456 |
BXGD010448 |
Developmental Psychomotor Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0878787 |
BXGD011392 |
Growth failure |
|
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1112705 |
BXGD011681 |
Nuclear non-senile cataract |
Eye Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1301937 |
BXGD012300 |
Talipes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1337013 |
BXGD012876 |
Differentiated Thyroid Gland Carcinoma |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1389280 |
BXGD012967 |
Basal ganglia calcification |
|
| C1510497 |
BXGD013174 |
Lens Opacities |
Eye Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1833561 |
BXGD013934 |
UV-Sensitive Syndrome |
Skin and Connective Tissue Diseases |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1837767 |
BXGD014269 |
Loss of facial adipose tissue |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1843392 |
BXGD014582 |
Death in childhood |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849538 |
BXGD015064 |
Delayed eruption of primary teeth |
|
| C1849953 |
BXGD015093 |
Square pelvis bone |
|
| C1851430 |
BXGD015213 |
Subcortical white matter calcifications |
Pathological Conditions, Signs and Symptoms |
| C1851431 |
BXGD015214 |
Cerebellar calcifications |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1855514 |
BXGD015505 |
Severe failure to thrive |
|
| C1857108 |
BXGD015677 |
Limitation of joint mobility |
|
| 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 |
| C1857638 |
BXGD015725 |
Patchy demyelination of subcortical white matter |
|
| C1857640 |
BXGD015726 |
Decreased nerve conduction velocity |
|
| C1857645 |
BXGD015729 |
Slender nose |
|
| C1857651 |
BXGD015730 |
Ivory epiphyses of the phalanges of the hand |
|
| C1857657 |
BXGD015732 |
Reduced subcutaneous adipose tissue |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1857707 |
BXGD015742 |
Increased cellular sensitivity to UV light |
|
| C1857710 |
BXGD015743 |
Progeroid facial appearance |
|
| C1857949 |
BXGD015758 |
Prominent metopic ridge |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858160 |
BXGD015777 |
CRANIOSYNOSTOSIS, TYPE 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1858452 |
BXGD015796 |
Thickened calvaria |
|
| C1859223 |
BXGD015864 |
Deep longitudinal plantar crease |
|
| C1859224 |
BXGD015865 |
Second metatarsal posteriorly placed |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865027 |
BXGD016287 |
Hypoplastic iliac wing |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1955934 |
BXGD016614 |
Trichothiodystrophy Syndromes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1956147 |
BXGD016622 |
Microlissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1968564 |
BXGD016714 |
Defective DNA repair after ultraviolet radiation damage |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2242574 |
BXGD016979 |
Compulsive sexual behaviour |
|
| C2347761 |
BXGD017049 |
Childhood Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2674950 |
BXGD017262 |
LUNG CANCER, SUSCEPTIBILITY TO |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3151063 |
BXGD018382 |
MACULAR DEGENERATION, AGE-RELATED, 5 |
|
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3536734 |
BXGD019071 |
Hypoplastic pelvis |
|
| C3551173 |
BXGD019145 |
UV-SENSITIVE SYNDROME 1 |
|
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3811653 |
BXGD019662 |
Experimental Organism Basal Cell Carcinoma |
Neoplasms |
| C3853041 |
BXGD019819 |
Severe Congenital Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3887461 |
BXGD019876 |
Head and Neck Carcinoma |
Neoplasms |
| C3900098 |
BXGD020106 |
Adult Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C4021550 |
BXGD020666 |
Elevated circulating follicle stimulating hormone level |
|
| C4021786 |
BXGD020779 |
Atypical scarring of skin |
Pathological Conditions, Signs and Symptoms |
| C4023616 |
BXGD021229 |
Abnormality of immune system physiology |
|
| C4024826 |
BXGD021431 |
Pigmentation anomalies of sun-exposed skin |
|
| C4025252 |
BXGD021607 |
Abnormal nasal morphology |
|
| C4025610 |
BXGD021692 |
Peripheral dysmyelination |
|
| C4025648 |
BXGD021709 |
Abnormal peripheral myelination |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4310783 |
BXGD022664 |
PREMATURE OVARIAN FAILURE 11 |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4721806 |
BXGD023772 |
Carcinoma, Basal Cell |
Neoplasms |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
