C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
336 |
579 |
C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
303 |
505 |
C4021085 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of the nervous system
|
103 |
131 |
C0035334 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
88 |
420 |
C0854723 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
78 |
218 |
C0028738 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
62 |
83 |
C0339527 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
28 |
90 |
C0431399 |
Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome
|
Abnormality of the nervous system
|
26 |
175 |
C0730292 |
Macular dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
|
Abnormality of the eye
|
25 |
52 |
C0152427 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
physical disorder
|
Abnormality of limbs; Abnormality of the skeletal system
|
24 |
37 |
C0752166 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
23 |
157 |
C1842364 |
Central hypotonia
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system; Abnormality of the musculature
|
23 |
25 |
C0687120 |
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease
|
Abnormality of the genitourinary system
|
22 |
101 |
C0022680 |
Polycystic Kidney Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome
|
Abnormality of the genitourinary system
|
21 |
52 |
C4085590 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
|
Abnormality of the eye
|
20 |
30 |
C1840379 |
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
20 |
26 |
C0265215 |
Meckel-Gruber syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
18 |
105 |
C0079924 |
Oligohydramnios
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
disease of anatomical entity
|
Abnormality of prenatal development or birth
|
17 |
21 |
C0456909 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
15 |
18 |
C0220726 |
Diastrophic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
13 |
62 |
C0022595 |
Keratosis Follicularis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
13 |
17 |
C0410916 |
Neonatal Death
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
|
|
9 |
10 |
C4551568 |
Joubert syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome
|
|
7 |
27 |
C1565489 |
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the genitourinary system
|
7 |
10 |
C1865060 |
Molar tooth sign on MRI
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
7 |
7 |