C4755276 |
Primary CD59 deficiency
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C4755273 |
Syndromic multisystem autoimmune disease due to ITCH deficiency
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
|
|
1 |
C4755251 |
Congenital neutropenia, myelofibrosis, nephromegaly syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
|
1 |
C4751204 |
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C4751077 |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
|
|
1 |
C4750999 |
Ocular albinism with congenital sensorineural deafness
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
|
|
1 |
C4749905 |
Methylmalonic aciduria due to transcobalamin receptor defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C4749033 |
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4749028 |
CILIARY DYSKINESIA, PRIMARY, 40
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4749023 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4749014 |
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4749003 |
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748993 |
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748988 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748946 |
CARDIAC-UROGENITAL SYNDROME
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748940 |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748934 |
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748927 |
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
1 |
C4748898 |
TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748876 |
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
|
phenotype |
|
Finding
|
|
|
1 |
C4748873 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 12
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748841 |
CILIARY DYSKINESIA, PRIMARY, 39
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748840 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748839 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748838 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
|
disease |
|
Disease or Syndrome
|
|
|
1 |