C4757950 |
Isolated ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C4751232 |
Rare isolated myopia
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4750718 |
Cyclin-dependent kinase-like 5 deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
C4749367 |
Mesial temporal lobe epilepsy with hippocampal sclerosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
|
2 |
C4749139 |
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4749136 |
CPT1A ARCTIC VARIANT
|
phenotype |
|
Finding
|
|
|
1 |
C4749123 |
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
|
disease |
|
Disease or Syndrome
|
|
|
2 |
C4749062 |
BOMBAY PHENOTYPE, DIGENIC
|
phenotype |
|
Finding
|
|
|
1 |
C4749059 |
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
|
disease |
|
Disease or Syndrome
|
|
|
3 |
C4749056 |
MACRODACTYLY, SOMATIC
|
disease |
|
Congenital Abnormality
|
|
|
1 |
C4749053 |
MASTOCYTOSIS, SYSTEMIC, SOMATIC
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4749033 |
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4749023 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
|
disease |
|
Disease or Syndrome
|
|
|
2 |
C4749019 |
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67
|
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 |
C4748969 |
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C4748952 |
Hepatopulmonary fusion
|
phenotype |
|
Finding
|
|
|
1 |
C4748946 |
CARDIAC-UROGENITAL SYNDROME
|
disease |
|
Disease or Syndrome
|
|
|
2 |
C4748940 |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748939 |
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748934 |
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4748930 |
HYPOTRICHOSIS 14
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |