C1849930 |
Persistent Mullerian duct syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Anatomical Abnormality
|
disease of anatomical entity
|
|
2 |
C0344487 |
Lateral meningocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Anatomical Abnormality
|
genetic disease
|
|
1 |
C1507149 |
Partial chromosome Y deletion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Cell or Molecular Dysfunction
|
|
|
8 |
C2931574 |
Chromosome 5, monosomy 5q35
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Cell or Molecular Dysfunction
|
|
|
2 |
C2931860 |
Monosomy 5p
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Cell or Molecular Dysfunction
|
|
|
2 |
C1848794 |
Thyrotropin, Biologically Inactive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Cell or Molecular Dysfunction
|
genetic disease; disease of anatomical entity; syndrome
|
|
1 |
C2931816 |
Chromosome 2, monosomy 2q24
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
|
|
1 |
C0266539 |
Congenital total cataract
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
16 |
C0431362 |
Lobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
15 |
C0751617 |
Semilobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
15 |
C0431363 |
Alobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome; physical disorder
|
Abnormality of the nervous system
|
14 |
C0339535 |
Night blindness, congenital stationary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
13 |
C0020608 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of head or neck
|
12 |
C4082304 |
Oligodontia
|
disease |
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of head or neck
|
12 |
C0039685 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
11 |
C1112155 |
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
genetic disease
|
|
11 |
C0037221 |
Situs Inversus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
physical disorder
|
Abnormality of the digestive system; Abnormality of the cardiovascular system; Growth abnormality
|
9 |
C0158646 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
9 |
C0266642 |
Situs ambiguus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
|
Growth abnormality
|
9 |
C1167664 |
Situs ambiguous
|
disease |
|
Congenital Abnormality
|
|
|
9 |
C0266294 |
Unilateral agenesis of kidney
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
|
Abnormality of the genitourinary system
|
8 |
C0344724 |
Ostium secundum atrial septal defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
8 |
C0685837 |
Pure Gonadal Dysgenesis, 46, XX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
8 |
C0949595 |
Gonadal Dysgenesis, 46,XX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
8 |
C0265554 |
Ectrodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of limbs; Abnormality of the skeletal system
|
7 |