C0221054 |
Welander Distal Myopathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
2 |
1 |
C0221182 |
Chordee
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the genitourinary system
|
2 |
1 |
C0232769 |
Abnormal gallbladder function
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
2 |
1 |
C0235971 |
Elevated alpha-fetoprotein
|
phenotype |
|
Finding
|
|
Abnormality of metabolism/homeostasis
|
2 |
1 |
C0236033 |
Muscle hypertrophy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Organ or Tissue Function
|
disease of anatomical entity
|
|
2 |
1 |
C0238196 |
Small intestine carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
2 |
1 |
C0242855 |
Congenital atresia of pulmonary valve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
|
Abnormality of the cardiovascular system
|
2 |
1 |
C0265226 |
Hecht syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
2 |
1 |
C0265961 |
Erythrokeratodermia variabilis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
2 |
1 |
C0266368 |
Congenital absence of ovary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
|
Abnormality of the genitourinary system
|
2 |
1 |
C0266383 |
Uterine Anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
|
Abnormality of the genitourinary system
|
2 |
1 |
C0270968 |
Limb-girdle muscular dystrophy type 2H
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
disease of anatomical entity
|
|
2 |
1 |
C0271623 |
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the genitourinary system; Abnormality of the endocrine system
|
2 |
1 |
C0333641 |
Atrophic
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
|
|
2 |
1 |
C0344905 |
Left ventricular abnormality
|
group |
|
Congenital Abnormality
|
|
Abnormality of the cardiovascular system
|
2 |
1 |
C0426818 |
Thin rib
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
2 |
1 |
C0426961 |
Dystonic posture
|
phenotype |
|
Finding
|
|
|
2 |
1 |
C0428974 |
Supraventricular arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
|
Abnormality of the cardiovascular system
|
2 |
1 |
C0473237 |
Frank hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
2 |
1 |
C0494479 |
Other headache syndrome
|
disease |
|
Disease or Syndrome
|
|
|
2 |
1 |
C0542035 |
Erythroid hypoplasia
|
disease |
|
Disease or Syndrome
|
|
Abnormality of blood and blood-forming tissues
|
2 |
1 |
C0542571 |
Facial edema
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
|
Abnormality of metabolism/homeostasis; Abnormality of head or neck
|
2 |
1 |
C0546817 |
Fluid overload
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Pathologic Function
|
|
Abnormality of the cardiovascular system
|
2 |
1 |
C0546878 |
Nodding spasm
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the eye
|
2 |
1 |
C0549463 |
X-Linked Lymphoproliferative Disorder
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
genetic disease; disease of anatomical entity
|
|
2 |
1 |