Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4759434 PF-ILD-progressive fibrosing interstitial lung disease disease Respiratory Tract Diseases Disease or Syndrome 2 0
C4759295 Non-metastatic prostate cancer disease Neoplasms; Male Urogenital Diseases Neoplastic Process 18 0
C4757951 Desmoplastic infantile astrocytoma and ganglioglioma disease Neoplastic Process 1 0
C4757950 Isolated ATP synthase deficiency disease Disease or Syndrome genetic disease; disease of metabolism 1 0
C4755314 Autosomal recessive cutis laxa type 2B disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0
C4755310 Cryptogenic late-onset epileptic spasms disease Disease or Syndrome 1 0
C4755308 Familial cervical artery dissection disease Disease or Syndrome 9 2
C4755301 Idiopathic eosinophilic myositis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0
C4755297 Somatomammotropinoma disease Neoplastic Process 2 0
C4755296 Susceptibility to viral and mycobacterial infection disease Disease or Syndrome 11 3
C4755274 Atypical hypotonia cystinuria syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 0
C4755264 Severe intellectual disability and progressive spastic paraplegia disease Disease or Syndrome genetic disease; disease of anatomical entity 2 0
C4755254 Hypomyelination with brain stem and spinal cord involvement and leg spasticity disease Disease or Syndrome 1 0
C4755251 Congenital neutropenia, myelofibrosis, nephromegaly syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0
C4751570 Ferro-cerebro-cutaneous syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0
C4751433 Late-onset isolated adrenocorticotropic hormone deficiency disease Endocrine System Diseases Disease or Syndrome 1 0
C4751235 High-grade neuroendocrine carcinoma of cervix uteri disease Neoplastic Process 1 0
C4751168 Pitt Hopkins-like syndrome disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0
C4751167 Late-onset focal dermal elastosis disease Disease or Syndrome 1 0
C4751078 Onychomatricoma disease Neoplasms Neoplastic Process 4 0
C4750854 East Texas bleeding disorder disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0
C4750847 Contiguous ABCD1 DXS1357E deletion syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0
C4750787 Autosomal systemic lupus erythematosus disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1 0
C4750718 Cyclin-dependent kinase-like 5 deficiency disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 1
C4750445 Left cervical sympathetic dystrophy disease Nervous System Diseases Disease or Syndrome 1 0