C4304411 |
Xeroderma pigmentosum and Cockayne syndrome complex
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
2 |
1 |
C0043346 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
genetic disease
|
|
5 |
12 |
C0238052 |
Xanthomatosis, Cerebrotendinous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
69 |
C0043325 |
Xanthomatosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of the integument
|
1 |
1 |
C0221253 |
Xanthoma tendinosum
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of the integument; Abnormality of the skeletal system
|
2 |
22 |
C1863688 |
Xanthinuria, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
2 |
7 |
C0268118 |
Xanthinuria, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
1 |
4 |
C4551511 |
X-linked sideroblastic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
15 |
C0271836 |
X-linked reduction of thyroxine-binding globulin
|
disease |
|
Disease or Syndrome
|
|
|
1 |
1 |
C1839615 |
X-linked myopathy with excessive autophagy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
8 |
C0549463 |
X-Linked Lymphoproliferative Disorder
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
genetic disease; disease of anatomical entity
|
|
2 |
1 |
C4305072 |
X-linked intellectual disability Van Esch type
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
5 |
C4552072 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
111 |
C3275445 |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
6 |
C0265216 |
X-linked hydrocephalus syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
11 |
C0751337 |
X-Linked Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
2 |
33 |
C1148551 |
X-Linked Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
17 |
C1279481 |
X-Linked Combined Immunodeficiency Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
39 |
C4706465 |
X-linked Charcot-Marie-Tooth disease type 1
|
disease |
|
Disease or Syndrome
|
|
|
1 |
1 |
C3275487 |
X-linked cerebral, cerebellar, coloboma syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
2 |
C0410203 |
X-linked centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
1 |
138 |
C0472813 |
X-linked agammaglobulinemia with growth hormone deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
17 |
C0221026 |
X-linked agammaglobulinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
62 |
C0342482 |
X-linked Adrenal Hypoplasia
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
58 |
C1845977 |
X- linked recessive
|
phenotype |
|
Finding
|
|
|
1 |
1 |