C0220687 |
KBG syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
syndrome
|
|
1 |
C0265354 |
CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
syndrome
|
|
1 |
C0272170 |
Shwachman syndrome
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
1 |
C0795833 |
KLEEFSTRA SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
syndrome
|
|
1 |
C0796113 |
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
syndrome
|
|
1 |
C3281235 |
BARAITSER-WINTER SYNDROME 2
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
1 |
C0265338 |
Coffin-Siris syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
genetic disease; syndrome; disease of mental health
|
|
2 |
C1275081 |
Cardio-facio-cutaneous syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
genetic disease; syndrome
|
|
19 |
C1568247 |
Usher Syndrome, Type I
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
5 |
C1848638 |
USHER SYNDROME, TYPE IB (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
5 |
C1848639 |
USHER SYNDROME, TYPE IA, FORMERLY
|
disease |
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
5 |
C1848640 |
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
|
disease |
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
5 |
C0043207 |
Wolfram Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
2 |
C0162361 |
Hidrotic Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
Abnormality of the integument
|
1 |
C0175695 |
Sotos' syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C0282529 |
Chondrodysplasia Punctata, Rhizomelic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C0339534 |
Usher syndrome type 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C0795864 |
Smith-Magenis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C1568248 |
Usher Syndrome, Type III
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C1568249 |
Usher Syndrome, Type II
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C1850343 |
Mosaic variegated aneuploidy syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C1856113 |
Mowat-Wilson syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C1970431 |
PITT-HOPKINS SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C2931213 |
Usher syndrome, type 2C
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C3279843 |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
|
disease |
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |