Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1863392 Abnormal morphology of the limbic system phenotype Finding Abnormality of the nervous system 1
C4073134 Abnormality of the periosteum disease Anatomical Abnormality Abnormality of the skeletal system 1
C1863395 Acrobrachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1
C1863403 Broad distal hallux phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C0010273 Craniofacial Dysostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system 1
C3552414 Deviation of the thumb phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 1
C0685678 Incomplete ossification of pubis phenotype Finding Abnormality of the skeletal system 1
C4023454 Metopic depression disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1
C1852411 Preauricular skin furrow phenotype Finding Abnormality of head or neck 1
C1852407 Prominent scrotal raphe phenotype Finding Abnormality of the genitourinary system 1
C1863382 Absent first metatarsal phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C1863406 Anomalous tracheal cartilage phenotype Finding Abnormality of the respiratory system 2
C4024730 Calcaneonavicular fusion phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 2
C1863363 Cartilaginous trachea phenotype Finding Abnormality of the respiratory system 2
C4025301 Cervical C5/C6 vertebrae fusion disease Anatomical Abnormality Abnormality of the skeletal system 2
C1849227 Cleft of chin phenotype Finding Abnormality of head or neck 2
C4023386 Morphological abnormality of the semicircular canal disease Anatomical Abnormality Abnormality of the ear 2
C1851797 Palmoplantar cutis gyrata phenotype Finding Abnormality of the integument; Abnormality of limbs 2
C4021365 Partial duplication of the distal phalanx of the 2nd finger disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C4021360 Partial duplication of the distal phalanx of the 3rd finger disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C3150931 Steep acetabular roof phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C4021418 Absent proximal phalanx of thumb phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 3
C4024215 Aplasia of the parotid gland disease Anatomical Abnormality Abnormality of head or neck 3
C4021627 Bilateral triphalangeal thumbs disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3
C0546297 Hallux Varus disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3