C3714756 |
Intellectual Disability
|
group |
Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
2023 |
C0543888 |
Epileptic encephalopathy
|
disease |
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
449 |
C0751651 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of anatomical entity; disease of metabolism
|
|
303 |
C0003886 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of connective tissue; Abnormality of the musculature; Abnormality of the skeletal system
|
257 |
C0010828 |
Cytopenia
|
phenotype |
|
Pathologic Function
|
|
|
206 |
C0158995 |
Congenital anemia
|
disease |
|
Disease or Syndrome
|
|
|
206 |
C0007959 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
199 |
C0029434 |
Osteogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality; Disease or Syndrome
|
disease of anatomical entity
|
|
173 |
C0004138 |
Ataxias, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
155 |
C0086543 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
151 |
C0023520 |
Leukodystrophy
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
146 |
C4277690 |
Ciliopathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
139 |
C4302111 |
Familial Ménière disease
|
disease |
|
Disease or Syndrome
|
|
|
124 |
C0152427 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
physical disorder
|
Abnormality of limbs; Abnormality of the skeletal system
|
117 |
C0025958 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
physical disorder
|
|
113 |
C0431350 |
Primary microcephaly
|
disease |
|
Congenital Abnormality
|
|
|
109 |
C0220994 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
disease of metabolism
|
Abnormality of metabolism/homeostasis
|
103 |
C0282577 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism
|
|
97 |
C0020255 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
95 |
C0270960 |
Congenital myopathy (disorder)
|
group |
|
Congenital Abnormality
|
disease of anatomical entity
|
|
90 |
C0037773 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
89 |
C0007820 |
Cerebrovascular Disorders
|
group |
Cardiovascular Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
87 |
C0376545 |
Hematologic Neoplasms
|
group |
Hemic and Lymphatic Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Neoplasm
|
86 |
C1112213 |
Cholestasis in newborn
|
disease |
|
Disease or Syndrome
|
|
|
86 |
C0007193 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
76 |