| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0006157 |
BXGD000377 |
Breech Presentation |
Female Urogenital Diseases and Pregnancy Complications |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010278 |
BXGD000660 |
Craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014588 |
BXGD000937 |
Epispadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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 |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0024530 |
BXGD001783 |
Malaria |
Infections |
| 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 |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029421 |
BXGD002141 |
Osteochondritis Dissecans |
Musculoskeletal Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0158113 |
BXGD003875 |
Contracture of joint of hand |
Musculoskeletal Diseases |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| 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 |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240310 |
BXGD005030 |
Hypoplasia of the maxilla |
|
| C0240340 |
BXGD005031 |
Microdontia (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0265202 |
BXGD005461 |
Seckel syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266009 |
BXGD005604 |
Congenital absence of breast |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266013 |
BXGD005606 |
Congenital hypoplasia of breast |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0268540 |
BXGD005976 |
HHH syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0342573 |
BXGD007508 |
PITUITARY DWARFISM I |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0423757 |
BXGD008504 |
Thin skin |
|
| C0423807 |
BXGD008511 |
Overcurvature of nail |
|
| C0426805 |
BXGD008580 |
Hooked clavicle |
|
| C0426817 |
BXGD008585 |
Short ribs |
|
| C0426818 |
BXGD008586 |
Thin rib |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0544755 |
BXGD009310 |
Genu varum |
Musculoskeletal Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0575802 |
BXGD009521 |
Small hand |
|
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0685776 |
BXGD009816 |
Congenital absence of mandible |
|
| C0702139 |
BXGD009909 |
Congenital absence of external ear |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1833144 |
BXGD013898 |
Slender long bone |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1842083 |
BXGD014494 |
Abnormality of the ribs |
|
| C1843108 |
BXGD014556 |
Short palm |
|
| C1844527 |
BXGD014640 |
Clitoral hypoplasia |
|
| C1849295 |
BXGD015031 |
Hypoplastic labia minora |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1855177 |
BXGD015467 |
Flat glenoid fossa |
|
| C1855650 |
BXGD015521 |
Birth length less than 3rd percentile |
|
| C1857074 |
BXGD015673 |
Absent sternal ossification |
|
| C1857665 |
BXGD015734 |
Aplastic clavicle |
|
| C1858539 |
BXGD015803 |
Shawl scrotum |
|
| C1859455 |
BXGD015893 |
Small anterior fontanelle |
|
| C1866190 |
BXGD016384 |
Atresia of the external auditory canal |
|
| C1868577 |
BXGD016509 |
Patella aplasia-hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1868578 |
BXGD016510 |
Patellar aplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1868684 |
BXGD016527 |
EAR, PATELLA, SHORT STATURE SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C1956147 |
BXGD016622 |
Microlissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1969653 |
BXGD016787 |
MUNGAN SYNDROME |
Digestive System Diseases; Neoplasms |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3853041 |
BXGD019819 |
Severe Congenital Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C4020847 |
BXGD020486 |
Abnormality of pelvic girdle bone morphology |
|
| C4021174 |
BXGD020575 |
Microtia, third degree |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C4021254 |
BXGD020599 |
Cutaneous finger syndactyly |
|
| C4021589 |
BXGD020688 |
Absent glenoid fossa |
|
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4025857 |
BXGD021831 |
Incomplete partition of the cochlea type II |
|
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4552001 |
BXGD023474 |
MEIER-GORLIN SYNDROME 1 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |