C0220722 |
Cerebrooculofacioskeletal Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
|
1 |
1 |
C0221061 |
Behr syndrome
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disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
2 |
C0240912 |
Vertical Talus
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
1 |
C0259771 |
Steatocystoma multiplex
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
|
Abnormality of the integument; Neoplasm
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1 |
3 |
C0262436 |
Cardiac valvular dysplasia, X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases
|
Congenital Abnormality
|
|
|
1 |
3 |
C0263428 |
Burnett Schwartz Berberian syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
|
Abnormality of the integument; Abnormality of head or neck; Abnormality of connective tissue
|
1 |
1 |
C0265223 |
Cohen syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
|
|
1 |
6 |
C0265227 |
Schinzel-Giedion syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
5 |
C0265251 |
Oto-Palato-digital syndrome type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
4 |
C0265267 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
3 |
C0265280 |
Spondylometaphyseal dysplasia, Kozlowski type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
1 |
10 |
C0265552 |
Congenital macrodactylia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
2 |
C0265987 |
Nevus comedonicus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
|
|
1 |
2 |
C0266432 |
Leydig cell agenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
|
|
1 |
9 |
C0268149 |
Glycogen storage disease type X
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
3 |
C0268160 |
Deficiency of fructokinase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
2 |
C0268164 |
Primary hyperoxaluria, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
|
|
1 |
37 |
C0268179 |
Lactase Deficiency, Congenital
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Pathologic Function
|
|
|
1 |
2 |
C0268186 |
Congenital glucose-galactose malabsorption
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
|
|
1 |
4 |
C0268293 |
Corticosterone Methyl Oxidase Type I Deficiency
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
|
|
1 |
1 |
C0268296 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
1 |
14 |
C0268297 |
Pseudovaginal Perineoscrotal Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
1 |
20 |
C0268465 |
Phenylketonuria II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
13 |
C0268467 |
Hyperphenylalaninemia, BH4-Deficient, B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
5 |
C0268474 |
Hydroxykynureninuria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
1 |