C1855710 |
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
|
Abnormality of blood and blood-forming tissues
|
18 |
C0009402 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
18 |
C0232466 |
Feeding difficulties
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
18 |
C3714506 |
Meckel syndrome type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
18 |
C0085110 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the immune system
|
18 |
C0013336 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
genetic disease
|
Growth abnormality
|
17 |
C0751882 |
Myasthenic Syndromes, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
17 |
C0233514 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
16 |
C2936862 |
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
16 |
C1292778 |
Chronic myeloproliferative disorder
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
16 |
C0339527 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
16 |
C3888631 |
Monogenic diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
16 |
C0026654 |
Moyamoya Disease
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
16 |
C1704374 |
Carcinoma of Endocrine Gland
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
|
|
15 |
C0086543 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the eye
|
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 |
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 |
C1858120 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
15 |
C4551675 |
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the integument
|
15 |
C0339535 |
Night blindness, congenital stationary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
15 |
C0085215 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
15 |
C1832200 |
Peroxisome biogenesis disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
15 |
C1150929 |
2-oxo-hept-3-ene-1,7-dioate hydratase activity
|
phenotype |
|
Molecular Function
|
|
|
14 |
C0008924 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
disease of anatomical entity; syndrome; physical disorder
|
Abnormality of head or neck
|
14 |
C0010346 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the digestive system; Abnormality of the immune system
|
14 |