C3888631 |
Monogenic diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
16 |
C0085215 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
15 |
C0265965 |
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
15 |
C0268237 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease; disease of metabolism
|
|
15 |
C1704374 |
Carcinoma of Endocrine Gland
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
|
|
15 |
C1832200 |
Peroxisome biogenesis disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
15 |
C0027707 |
Nephritis, Interstitial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
C0340543 |
Familial primary pulmonary hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
C1150929 |
2-oxo-hept-3-ene-1,7-dioate hydratase activity
|
phenotype |
|
Molecular Function
|
|
|
14 |
C0005818 |
Blood Platelet Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
13 |
C0006142 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
13 |
C0028326 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health
|
|
13 |
C0242383 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
13 |
C0266468 |
Congenital pontocerebellar hypoplasia
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
13 |
C0369183 |
Erythrocyte Mean Corpuscular Hemoglobin Test
|
phenotype |
|
Laboratory Procedure
|
|
|
13 |
C1136249 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
|
|
13 |
C1261502 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
|
|
13 |
C0043459 |
Zellweger Syndrome
|
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
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
12 |
C0206695 |
Carcinoma, Neuroendocrine
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of cellular proliferation
|
|
12 |
C0270960 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
12 |
C0340970 |
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
|
|
12 |
C1968949 |
Cakut
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
12 |
C2700553 |
Omenn Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
12 |
C0009782 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
11 |
C0029434 |
Osteogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
11 |