Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 58
C0345371 Hypoplasia of lower limb disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 3
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1 9
C2674173 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease 1 7
C0410529 Hypochondroplasia (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1 21
C0334082 NEVUS, EPIDERMAL (disorder) disease Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the integument 6 17
C0265269 Lacrimoauriculodentodigital syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 3 32
C2677099 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 8
C1851152 SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS disease Disease or Syndrome 1 1
C1864852 CATSHL syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 1 10
C1864436 Muenke Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 7
C1868678 THANATOPHORIC DYSPLASIA, TYPE I (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1 12
C1300257 Thanatophoric dysplasia, type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1 14
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
C0426790 Narrow thorax phenotype Finding Abnormality of the skeletal system 15 18
C0426817 Short ribs phenotype Finding Abnormality of the skeletal system 12 27
C1859461 Femoral bowing phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 9 13
C1865186 Bell-shaped thorax phenotype Finding Abnormality of the skeletal system 5 7
C1849937 Disproportionate short-limb short stature phenotype Finding Growth abnormality 4 5
C1837406 Hypoplasia involving bones of the upper limbs phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 3
C1859460 Bowed humerus phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C2674171 Lethal short-limbed short stature disease Finding Growth abnormality 1 1
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 43 100
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 37 211