C1848392 |
Zunich neuroectodermal syndrome
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disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
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Disease or Syndrome
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1 |
C2931488 |
Zlotogora-Ogur syndrome
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disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
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Disease or Syndrome
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genetic disease
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1 |
C0796013 |
Zimmerman Laband syndrome
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
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Disease or Syndrome
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|
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3 |
C4310696 |
Zhu-Tokita-Takenouchi-Kim syndrome
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phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
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Disease or Syndrome
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|
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1 |
C0043459 |
Zellweger Syndrome
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
1 |
C0270969 |
Zebra body myopathy
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disease |
Musculoskeletal Diseases; Nervous System Diseases
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Disease or Syndrome
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1 |
C1857663 |
Yunis Varon syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
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genetic disease; syndrome
|
|
2 |
C4225255 |
YUAN-HAREL-LUPSKI SYNDROME
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disease |
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Disease or Syndrome
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|
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1 |
C1863557 |
Young Simpson syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
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Disease or Syndrome
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syndrome
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1 |
C4310778 |
YOU-HOOVER-FONG SYNDROME
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disease |
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Disease or Syndrome
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|
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1 |
C2931296 |
Yorifuji Okuno syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
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Disease or Syndrome
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|
|
1 |
C4750849 |
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
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disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
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Disease or Syndrome
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|
|
1 |
C0432475 |
XX males
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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Disease or Syndrome
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|
|
4 |
C4310830 |
Xq25 TRIPLICATION SYNDROME
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disease |
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Disease or Syndrome
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|
|
1 |
C4311049 |
Xq25 DUPLICATION SYNDROME
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disease |
|
Disease or Syndrome
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|
|
1 |
C1848410 |
Xeroderma pigmentosum, variant type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
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Disease or Syndrome
|
genetic disease
|
|
1 |
C0432328 |
Xeroderma pigmentosum, variant form
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
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Disease or Syndrome; Congenital Abnormality
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|
|
1 |
C0272051 |
Xerocytosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
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Disease or Syndrome
|
|
|
3 |
C1863688 |
Xanthinuria, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
1 |
C0268118 |
Xanthinuria, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
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Disease or Syndrome
|
genetic disease; disease of metabolism
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Abnormality of metabolism/homeostasis
|
1 |
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 |
C0403720 |
X-linked recessive nephrolithiasis with renal failure
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
|
|
1 |
C4707849 |
X-linked non progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
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Disease or Syndrome
|
|
|
1 |
C1839615 |
X-linked myopathy with excessive autophagy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C0549463 |
X-Linked Lymphoproliferative Disorder
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
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Neoplastic Process
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genetic disease; disease of anatomical entity
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1 |