C4225266 |
IMMUNODEFICIENCY 42
|
disease |
|
Disease or Syndrome
|
|
|
0 |
3 |
C0033805 |
Pseudohypoaldosteronism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the endocrine system
|
0 |
2 |
C0221215 |
Common atrioventricular canal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
0 |
2 |
C1833590 |
ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC
|
disease |
|
Finding
|
|
|
0 |
2 |
C1835828 |
Invasive Pneumococcal Disease, Recurrent Isolated, 1
|
disease |
Infections; Immune System Diseases
|
Disease or Syndrome
|
|
|
0 |
2 |
C1839841 |
SPERMATOGENIC FAILURE, X-LINKED, 2
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
2 |
C1842371 |
DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
2 |
C1850126 |
Osteopetrosis, mild autosomal recessive form
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
2 |
C1866040 |
DIABETES MELLITUS, INSULIN-DEPENDENT, 10
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of metabolism
|
|
0 |
2 |
C2673630 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
2 |
C2674081 |
Skin/Hair/Eye Pigmentation, Variation In, 7
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
|
|
0 |
2 |
C2748918 |
Otopalatodigital Spectrum Disorder
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
0 |
2 |
C2751666 |
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
2 |
C3151444 |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
2 |
C4017331 |
ANGIOFIBROMA, SOMATIC
|
disease |
|
Finding
|
|
|
0 |
2 |
C4085248 |
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
|
|
0 |
2 |
C4281559 |
FRONTOMETAPHYSEAL DYSPLASIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
0 |
2 |
C4479588 |
IMMUNODEFICIENCY 52
|
disease |
|
Disease or Syndrome
|
|
|
0 |
2 |
C0021670 |
insulinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm
|
0 |
1 |
C0085570 |
Hypokalemic alkalosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
0 |
1 |
C0151468 |
Thyroid Gland Follicular Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the endocrine system; Neoplasm
|
0 |
1 |
C0151942 |
Arterial thrombosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
|
Abnormality of blood and blood-forming tissues
|
0 |
1 |
C0152419 |
Interrupted aortic arch
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
0 |
1 |
C0265319 |
Fibrous skin tumor of tuberous sclerosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
|
Abnormality of the integument; Neoplasm; Abnormality of head or neck
|
0 |
1 |
C0339985 |
Idiopathic bronchiectasis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
0 |
1 |