C1848410 |
Xeroderma pigmentosum, variant type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0268141 |
Xeroderma pigmentosum, group G
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0268140 |
Xeroderma pigmentosum, group F
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
genetic disease
|
|
1 |
C0268136 |
Xeroderma pigmentosum, group B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0268135 |
Xeroderma pigmentosum, group A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C1848411 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease
|
|
1 |
C0268138 |
Xeroderma Pigmentosum, Complementation Group D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C2752147 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease
|
|
1 |
C4552072 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
5 |
C4304400 |
X-linked hereditary sensory and autonomic neuropathy with deafness
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C0410203 |
X-linked centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
1 |
C3280358 |
Wolfram-Like Syndrome, Autosomal Dominant
|
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
|
|
1 |
C4518338 |
Wolfram-like syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
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 |
C0043194 |
Wiskott-Aldrich Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0043119 |
Werner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0796195 |
Waisman syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
C2750452 |
Waardenburg Syndrome, Type 4c
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C2750457 |
Waardenburg Syndrome, Type 4b
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C1848519 |
WAARDENBURG SYNDROME, TYPE 4A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C2700265 |
Waardenburg Syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C1847800 |
Waardenburg Syndrome Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
2 |
C3266898 |
Waardenburg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
2 |
C3887523 |
Very long chain acyl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
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 |