Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1842688 Hypoplasia of the brainstem phenotype Finding Abnormality of the nervous system 51
C1843700 Increased variability in muscle fiber diameter phenotype Finding Abnormality of the musculature 49
C0427144 Toe-walking gait phenotype Finding Abnormality of the nervous system 48
C1843057 Calf muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 46
C1854387 Type 1 muscle fiber predominance phenotype Finding Abnormality of the musculature 44
C1866190 Atresia of the external auditory canal disease Anatomical Abnormality Abnormality of the ear 43
C1849097 Loss of ability to walk phenotype Finding Abnormality of the nervous system 30
C1850794 Proximal amyotrophy disease Disease or Syndrome Abnormality of the musculature 28
C0410264 Contracture of tendo achilles disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 27
C1842170 Centrally nucleated skeletal muscle fibers phenotype Finding Abnormality of the musculature 25
C4025845 Abnormality iris morphology disease Anatomical Abnormality Abnormality of the eye 25
C4024809 Chorioretinal dysplasia disease Anatomical Abnormality Abnormality of the eye 21
C0556280 Gross motor impairment phenotype Finding Abnormality of the nervous system 20
C4025773 Aplasia/Hypoplasia involving the skeletal musculature phenotype Finding Abnormality of the musculature 19
C0575157 Deformity of spine disease Anatomical Abnormality Abnormality of the skeletal system 18
C2230441 Triceps weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 18
C4073168 Abnormal lactate dehydrogenase activity phenotype Finding Abnormality of metabolism/homeostasis 18
C4551761 Excessive daytime sleepiness phenotype Sign or Symptom Abnormality of the nervous system 18
C1839666 Calf muscle pseudohypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 17
C4021082 Fatty replacement of skeletal muscle phenotype Finding Abnormality of the musculature 16
C4022916 Abnormal aldolase level phenotype Finding Abnormality of metabolism/homeostasis 16
C3278322 Cerebellar dysplasia phenotype Finding Abnormality of the nervous system 15
C4023701 Impaired visuospatial constructive cognition phenotype Finding Abnormality of the nervous system 15
C1853377 Enlarged cisterna magna phenotype Finding Abnormality of the nervous system 14
C1847762 Cerebellar cyst phenotype Finding Abnormality of the nervous system 13